Scientific Publications

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  • High positive predictive value 22q11.2 microdeletion screening by prenatal cell-free DNA testing that incorporates fetal fraction amplification

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  • NPWH 2023

    Menopausal symptom management considerations in patients at high risk for breast cancer

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  • AUA Western 2023

    Active Surveillance Selection and Durability in Men with NCCN Intermediate-Risk, Localized Prostate Cancer Who Had Genetic Testing

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    Scientific publications

    Key study finding: ctDNA levels detected using Precise MRD were associated with patients’ response to metastasis-directed radiation therapy

    DOI: 10.1016/S1470-2045(25)00380-8

    Meta-Analysis demonstrates that Access to the GeneSight test can significantly improve response and remission rates for patients with depression

    DOI: 10.1097/JCP.0000000000002061

    Study suggest that utilizing RiskScore drives breast cancer screening tailored to individual risk

    DOI: 10.1200/PO-24-00716

    Study results show patients with depression had fewer psychiatric hospitalizations after GeneSight testing

    DOI: 10.1097/JCP.0000000000001999

    Prolaris can predict the benefit of hormone therapy treatment in localized prostate cancer

    DOI: 10.1200/PO.23.00722
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      Comparison of risk assessment in 1652 early ER positive, HER2 negative breast cancer in a real-world data set: classical pathological parameters vs. 12-gene molecular assay (EndoPredict) EndoPredict® Breast Cancer Research and Treatment 2021 Published Manuscripts 1
      Evaluating the efficacy of three carrier screening workflows designed to identify at-risk carrier couples Foresight® Prenatal Diagnosis 2021 Published Manuscripts 2
      A guidelines-consistent carrier screening panel that supports equity across diverse populations Foresight® Genetics in Medicine 2021 Published Manuscripts 3
      Genetic-Ancestry Analysis on >93,000 Individuals Undergoing Expanded Carrier Screening Reveals Limitations of Ethnicity-Based Medical Guidelines Foresight® Genetics in Medicine 2021 Published Manuscripts 4
      Obesogenic Medications and Weight Gain Over 24 Weeks in Patients with Depression: Results from the GUIDED Study GeneSight® Psychopharmacology Bulletin 2021 Published Manuscripts 7
      Review and Meta-analysis on the Impact of the ADRA2A Variant rs1800544 on Methylphenidate Outcomes in Attention-Deficit/Hyperactivity Disorder GeneSight® Biological Psychiatry Global Open Science 2021 Published Manuscripts 8
      Pharmacogenetic Testing in an Academic Psychiatric Clinic: A Retrospective Chart Review GeneSight® Journal of Personalized Medicine 2021 Published Manuscripts 9
      Clinical validation of combinatorial pharmacogenomic testing and single-gene guidelines in predicting psychotropic medication blood levels and clinical outcomes in patients with depression GeneSight® Psychiatry Research 2021 Published Manuscripts 10
      Clinical significance of homologous recombination deficiency score testing in endometrial Cancer Gynecologic Oncology 2021 Published Manuscripts 11
      Homologous recombination deficiency (HRD) score in germline BRCA2- versus ATM-altered prostate cancer Modern Pathology 2021 Published Manuscripts 12
      Analysis of mutation status and homologous recombination deficiency in tumors of patients with germline BRCA1 or BRCA2 mutations and metastatic breast cancer: OlympiAD Annals of Oncology 2021 Published Manuscripts 13
      Concordance of BRCA mutation detection in tumor versus blood, and frequency of bi-allelic loss of BRCA in tumors from patients in the phase III SOLO2 trial Gynecologic Oncology 2021 Published Manuscripts 14
      Modification of Homologous Recombination Deficiency Score Threshold and Association with Long-Term Survival in Epithelial Ovarian Cancer Cancers 2021 Published Manuscripts 16
      Family history of breast cancer in men with non-BRCA male breast cancer: implications for cancer risk counseling MyRisk® Breast Cancer Research and Treatment 2021 Published Manuscripts 17
      Germline Pathogenic Variants in the Ataxia 4 Telangiectasia Mutated (ATM) Gene are Associated 5 Q2 with High and Moderate Risks for Multiple Cancers MyRisk® Cancer Prevention Research 2021 Published Manuscripts 18
      Association of Family Cancer History With Pathogenic Variants in Specific Breast Cancer Susceptibility Genes MyRisk® JCO Precision Oncology 2021 Published Manuscripts 19
      Interpretation of BRCA2 Splicing Variants: A Case Series of Challenging Variant Interpretations and the Importance of Functional RNA Analysis MyRisk® Familial Cancer 2021 Published Manuscripts 20
      Prospective Statewide Study of Universal Screening for Hereditary Colorectal Cancer: The Ohio Colorectal Cancer Prevention Initiative MyRisk® JCO Precision Oncology 2021 Published Manuscripts 21
      Economic impact of multigene panel testing for hereditary breast and ovarian cancer MyRisk® Journal of Comparative Effectiveness Research 2021 Published Manuscripts 22
      Age of ovarian cancer diagnosis among BRIP1, RAD51C, and RAD51D mutation carriers identified through multi-gene panel testing MyRisk® Journal of Ovarian Research 2021 Published Manuscripts 23
      Multigene assessment of genetic risk for women for two or more breast cancers MyRisk® Breast Cancer Research and Treatment 2021 Published Manuscripts 24
      Validation of the cell cycle progression score to differentiate indolent from aggressive prostate cancer in men diagnosed through transurethral resection of the prostate biopsy Prolaris® Cancer Reports 2021 Published Manuscripts 25
      Personalizing Localized Prostate Cancer: Validation of a Combined Clinical Cell-cycle Risk (CCR) Score Threshold for Prognosticating Benefit From Multimodality Therapy Prolaris® Clinical Genitourinary Cancer 2021 Published Manuscripts 26
      Multiple Tissue Biomarkers Independently and Additively Predict Prostate Cancer Pathology Outcomes Prolaris® European Urology 2021 Published Manuscripts 27
      Comprehensive Breast Cancer Risk Assessment for CHEK2 and ATM Pathogenic Variant Carriers Incorporating a Polygenic Risk Score and the Tyrer-Cuzick Model RiskScore® JCO Precision Oncology 2021 Published Manuscripts 28
      Integrating Clinical and Polygenic Factors to Predict Breast Cancer Risk in Women Undergoing Genetic Testing RiskScore® JCO Precision Oncology 2021 Published Manuscripts 29
      Performance of the IBIS/Tyrer-CuzickModel of Breast Cancer Risk by Race and Ethnicity in the Women's Health Initiative RiskScore® Cancer 2021 Published Manuscripts 30
      Molecular Drivers of Oncotype DX, Prosigna, EndoPredict, and the Breast Cancer Index: A TransATAC Study EndoPredict® Journal of Clinical Oncology 2020 Published Manuscripts 32
      The EndoPredict score predicts response to neoadjuvant chemotherapy and neoendocrine therapy in hormone receptor-positive, human epidermal growth factor receptor 2-negative breast cancer patients from the ABCSG-34 trial EndoPredict® European Journal of Cancer 2020 Published Manuscripts 33
      Prognostic Value of EndoPredict in Women withHormone Receptor-Positive, HER2-Negative Invasive Lobular Breast Cancer EndoPredict® Clinical Cancer Research 2020 Published Manuscripts 36
      Evaluation of the 12-Gene Molecular Score and the 21-Gene Recurrence Score as Predictors of Response to Neo-adjuvant Chemotherapy in Estrogen Receptor-Positive, HER2-Negative Breast Cancer EndoPredict® Annals of Surgical Oncology 2020 Published Manuscripts 38
      Clinical validity of expanded carrier screening: Evaluating the gene-disease relationship in more than 200 conditions Foresight® Human Mutation 2020 Published Manuscripts 39
      Evaluation and classification of severity for 176 genes on an expanded carrier screening panel Foresight® Prenatal Diagnosis 2020 Published Manuscripts 40
      Combinatorial Pharmacogenomic Testing Improves Outcomes for Older Adults With Depression GeneSight® The American Journal of Geriatric Psychiatry 2020 Published Manuscripts 41
      Combinatorial Pharmacogenomic Algorithm is Predictive of Citalopram and Escitalopram Metabolism in Patients with Major Depressive Disorder GeneSight® Psychiatry Research 2020 Published Manuscripts 42
      The clinical utility of combinatorial pharmacogenomic testing for patients with depression: a meta-analysis GeneSight® Pharmacogenomics 2020 Published Manuscripts 43
      Cost-effectiveness of combinatorial pharmacogenomic testing for depression from the Canadian public payer perspective GeneSight® Pharmacogenomics 2020 Published Manuscripts 45
      BRCA1 Promoter Methylation and Clinical Outcomes in Ovarian Cancer: An Individual Patient Data Meta-Analysis Journal of the National Cancer Institute 2020 Published Manuscripts 46
      Prevalence of tumor BRCA1 and BRCA2 dysfunction in unselected patients with ovarian cancer Obstetrics and Gynecology Science 2020 Published Manuscripts 47
      Genomic and Clinicopathologic Characterization of ATM-deficient Prostate Cancer Clinical Cancer Research 2020 Published Manuscripts 48
      TBCRC 030: a phase II study of preoperative cisplatin versus paclitaxel in triple-negative breast cancer: evaluating the homologous recombination deficiency (HRD) biomarker Annals of Oncology 2020 Published Manuscripts 49
      Association of Tumor Infiltrating Lymphocytes with Homologous Recombination Deficiency and BRCA1/2 Status in Patients with Early Triple-Negative Breast Cancer: A Pooled Analysis Clinical Cancer Research 2020 Published Manuscripts 50
      Psychosocial Outcomes Following Germline Multigene Panel Testing in an Ethnically and Economically Diverse Cohort of Patients MyRisk® Cancer 2020 Published Manuscripts 52
      Impact of a Cancer Gene Variant Reclassification Program Over a 20-Year Period MyRisk® JCO Precision Oncology 2020 Published Manuscripts 53
      Diversification of Nurse Practitioner Practice: Genetic Cancer Risk Assessment MyRisk® The Journal for Nurse Practitioners 2020 Published Manuscripts 54
      No Evidence of Increased Risk of Breast Cancer in Women With Lynch Syndrome Identified by Multigene Panel Testing MyRisk® JCO Precision Oncology 2020 Published Manuscripts 55
      Prevalence of Pathogenic Variants in Cancer Susceptibility Genes Among Women With Postmenopausal Breast Cancer MyRisk® JAMA 2020 Published Manuscripts 56
      Functional RNA Studies are a Useful Tool in Variant Classification but Must be Used with Caution: A Case Study of One BRCA2 Variant MyRisk® JCO Precision Oncology 2020 Published Manuscripts 57
      High risk of breast cancer in women with biallelic pathogenic variants in CHEK2 MyRisk® Breast Cancer Research and Treatment 2020 Published Manuscripts 58
      Fundamentals of Genetics and Genomics in Oncology Nursing Practice and Navigation Other Journal of Oncology Navigation and Survivorship 2020 Published Manuscripts 59
      The emerging field of polygenic risk scores and perspective for use in clinical care Other Human Molecular Genetics 2020 Published Manuscripts 60
      Risk assessment and genetic counseling for hereditary breast and ovarian cancer syndromes: Practice resource of the National Society of Genetic Counselors Other Journal of Genetic Counseling 2020 Published Manuscripts 61
      Reply to the letter to the editor for clinical experience across the fetal-fraction spectrum of a non-invasive prenatal screening approach with low test-failure rate Prequel® Ultrasound Obstetrics and Gynecology 2020 Published Manuscripts 62
      High-throughput fetal fraction amplification increases analytical performance of noninvasive prenatal screening Prequel® Genetics in Medicine 2020 Published Manuscripts 63
      Prognostic capabilities and clinical utility of cell cycle progression testing, prostate imaging reporting and data system, version 2, and clinicopathologic data in management of localized prostate cancer Prolaris® Urologic Oncology: Seminars and Original Investigations 2020 Published Manuscripts 65
      Biopsy Cell Cycle Proliferation Score Predicts Adverse Surgical Pathology in Localized Renal Cell Carcinoma Prolaris® European Urology 2020 Published Manuscripts 67
      Development and Validation of a Clinical Polygenic Risk Score to Predict Breast Cancer Risk RiskScore® JCO Precision Oncology 2020 Published Manuscripts 68
      Association of a Polygenic Risk Score With Breast Cancer Among Women Carriers of High- and Moderate-Risk Breast Cancer Genes RiskScore® JAMA Network Open 2020 Published Manuscripts 69
      Biomarker Assessment of HR Deficiency, Tumor BRCA1/2 Mutations, and CCNE1 Copy Number in Ovarian Cancer: Associations with Clinical Outcome Following Platinum Monotherapy Molecular Cancer Research 2019 Published Manuscripts 70
      Prediction of Distant Recurrence using EndoPredict among Women with ER+, HER2- Node-Positive and Node-Negative Breast Cancer Treated with Endocrine Therapy Only EndoPredict® Clinical Cancer Research 2019 Published Manuscripts 71
      Predicting Expected Absolute Chemotherapy Treatment Benefit in Women With Early-Stage Breast Cancer Using EndoPredict, an Integrated 12-Gene Clinicomolecular Assay EndoPredict® JCO Precision Oncology 2019 Published Manuscripts 72
      Prediction of chemotherapy benefit by EndoPredict in patients with breast cancer who received adjuvant endocrine therapy plus chemotherapy or endocrine therapy alone EndoPredict® Breast Cancer Research and Treatment 2019 Published Manuscripts 75
      Sequencing as a first-line methodology for cystic fibrosis carrier screening Foresight® Genetics in Medicine 2019 Published Manuscripts 76
      Inter-lab concordance of variant classifications establishes clinical validity of expanded carrier screening Foresight® Clinical Genetics 2019 Published Manuscripts 77
      Fragile X syndrome carrier screening accompanied by genetic consultation has clinical utility in populations beyond those recommended by guidelines Foresight® Molecular Genetics & Genomic Medicine 2019 Published Manuscripts 78
      Comparing sensitivity to change using the 6-item versus the 17-item Hamilton depression rating scale in the GUIDED randomized controlled trial GeneSight® BMC Psychiatry 2019 Published Manuscripts 79
      Impact of pharmacogenomics on clinical outcomes in major depressive disorder in the GUIDED trial: A large, patient- and rater-blinded, randomized, controlled study GeneSight® Journal of Psychiatric Research 2019 Published Manuscripts 80
      Economic Outcomes Following Combinatorial Pharmacogenomic Testing for Elderly Psychiatric Patients GeneSight® Journal of Geriatric Psychiatry and Neurology 2019 Published Manuscripts 81
      Economic Burden of Depression and Associated Resource Use in Manitoba, Canada GeneSight® The Canadian Journal of Psychiatry 2019 Published Manuscripts 82
      Canadian Medication Cost Savings Associated with Combinatorial Pharmacogenomic Guidance for Psychiatric Medications GeneSight® ClinicoEconomics and Outcomes Research 2019 Published Manuscripts 83
      Impact of Pharmacogenomics on Clinical Outcomes for Patients Taking Medications With Gene-Drug Interactions in a Randomized Controlled Trial GeneSight® The Journal of Clinical Psychaitry 2019 Published Manuscripts 84
      A data-driven evaluation of the size and content of expanded carrier screening panels Foresight® Genetics in Medicine 2019 Published Manuscripts 85
      Prognostic and predictive value of cell cycle progression (CCP) score in ductal carcinoma in situ of the breast Other Modern Pathology 2020 Published Manuscripts 86
      Screening for Tay-Sachs Disease carriers by full-exon sequencing with novel variant interpretation outperforms enzyme testing in a pan-ethnic cohort Foresight® Molecular Genetics & Genomic Medicine 2019 Published Manuscripts 88
      Practical Cancer Genetics and Genomics in Women's Health MyRisk® Clinical Obstetrics and Gynecology 2019 Published Manuscripts 89
      A substantial proportion of apparently heterozygous TP53 pathogenic variants detected with a next‐generation sequencing hereditary pan‐cancer panel are acquired somatically MyRisk® Human Mutation 2019 Published Manuscripts 90
      Detection of large rearrangements in a hereditary pan-cancer panel using nextgeneration sequencing MyRisk® BMC Medical Genomics 2019 Published Manuscripts 91
      Multicenter Prospective Cohort Study of the Diagnostic Yield and Patient Experience of Multiplex Gene Panel Testing For Hereditary Cancer Risk MyRisk® JCO Precision Oncology 2019 Published Manuscripts 92
      Prevalence and characteristics of likely-somatic variants in cancer susceptibility genes among individuals who had hereditary pan-cancer panel testing MyRisk® Cancer Genetics 2019 Published Manuscripts 93
      Clinical experience across the fetal-fraction spectrum for a non-invasive prenatal screen with low test-failure rate Prequel® Ultrasound Obstetrics and Gynecology 2020 Published Manuscripts 94
      Noninvasive prenatal screening for patients with high body mass index: Evaluating the impact of a customized whole genome sequencing workflow on sensitivity and residual risk Prequel® Prenatal Diagnosis 2019 Published Manuscripts 95
      Analysis of the prognostic utility of the cell cycle progression (CCP) score generated from needle biopsy in men treated with definitive therapy Prolaris® Prostate Cancer and Prostatic Diseases 2019 Published Manuscripts 96
      Clinical outcomes in men with prostate cancer who selected active surveillance using a clinical cell-cycle risk score Prolaris® Personalized Medicine 2019 Published Manuscripts 97
      Extracapsular extension on MRI indicates a more aggressive cell cycle progression genotype of prostate cancer Prolaris® Abdominal Radiology 2019 Published Manuscripts 99
      Clinical Utility of Hereditary Cancer Panel Testing: Impact of PALB2, ATM, CHEK2, NBN, BRIP1, RAD51C, and RAD51D Results on Patient Management and Adherence to Provider Recommendations Other Cancer 2019 Published Manuscripts 100
      Homologous Recombination Deficiency in Patients with Pancreatic Ductal Adenocarcinoma and Response to Chemotherapy JCO Precision Oncology 2019 Published Manuscripts 101
      Comparison of the Prognostic Utility of the Cell Cycle Progression Score for Predicting Clinical Outcomes in African American and Non-African American Men with Localized Prostate Cancer Prolaris® Prostate Cancer 2018 Published Manuscripts 103
      Hereditary cancer testing challenges: assembling the analytical pieces to solve the patient clinical puzzle MyRisk® Future Oncology 2018 Published Manuscripts 105
      Impact of a genetic counseling requirement prior to genetic testing BMC Health Services Research 2018 Published Manuscripts 106
      Pharmacogenetic analysis of opioid dependence treatment dose and dropout rate GeneSight® The American Journal of Drug and Alcohol Abuse 2018 Published Manuscripts 107
      Comparison of cell cycle progression score with two immunohistochemical markers (PTEN and Ki-67) for predicting outcome in prostate cancer after radical prostatectomy Prolaris® World Journal of Urology 2018 Published Manuscripts 108
      Hereditary Cancer Risk Assessment and Genetic Testing in the Community-Practice Setting MyRisk® Obstetrics and Gynecology Science 2018 Published Manuscripts 109
      Candidate biomarkers of PARP inhibitor sensitivity in ovarian cancer beyond the BRCA genes British Journal of Cancer 2018 Published Manuscripts 112
      Analytical validation of a psychiatric pharmacogenomic test GeneSight® Personalized Medicine 2018 Published Manuscripts 113
      Identification of men with low-risk biopsy-confirmed prostate cancer as candidates for active surveillance Prolaris® Urologic Oncology 2018 Published Manuscripts 114
      Prevalence of germ-line mutations in cancer genes among pancreatic cancer patients with a positive family history MyRisk® Genetics in Medicine 2018 Published Manuscripts 115
      Patient communication of cancer genetic test results in a diverse population MyRisk® Translational Behavioral Medicine 2018 Published Manuscripts 117
      Impact of homologous recombination deficiency biomarkers on outcomes in patients with triple-negative breast cancer treated with adjuvant doxorubicin and cyclophosphamide (SWOG S9313 Annals of Oncology 2018 Published Manuscripts 119
      Breast cancer brain metastases show increased levels of genomic aberration-based homologous recombination deficiency scores relative to their corresponding primary tumors EndoPredict® Annals of Oncology 2018 Published Manuscripts 120
      Combinatorial pharmacogenomics and improved patient outcomes in depression: Treatment by primary care physicians or psychiatrists GeneSight® Journal of Psychiatric Research 2018 Published Manuscripts 121
      A randomised phase III trial of carboplatin compared with docetaxel in BRCA1/2 mutated and 2 pre-specified triple negative breast cancer “BRCAness” subgroups: the TNT Trial Nature Medicine 2018 Published Manuscripts 122
      Prevalence of Variant Reclassification Following Hereditary Cancer Genetic Testing MyRisk® JAMA 2018 Published Manuscripts 123
      A Phase 1 Study of ABT-767 in Advanced Solid Tumors With BRCA1/2 Mutations and High-Grade Serous Ovarian, Fallopian Tube, or Primary Peritoneal Cancer Investigational New Drugs 2018 Published Manuscripts 124
      Survival analysis of carboplatin added to an anthracycline/taxane-based neoadjuvant chemotherapy and HRD score as predictor of response—final results from GeparSixto Annals of Oncology 2018 Published Manuscripts 125
      Tumor BRCA1 Reversion Mutation Arising during Neoadjuvant Platinum-Based Chemotherapy in Triple-Negative Breast Cancer Is Associated with Therapy Resistance Clinical Cancer Research 2017 Published Manuscripts 126
      Economic Utility:Combinatorial Pharmacogenomics and Medication Cost Savings for Mental Health Care in a Primary Care Setting GeneSight® Clinical Therapeutics 2017 Published Manuscripts 128
      Detection of somatic variants in peripheral blood lymphocytes using a next generation sequencing multigene pan cancer panel MyRisk® Cancer Genetics 2017 Published Manuscripts 129
      A Study of Over 35,000 Women With Breast Cancer Tested With a 25-Gene Panel of Hereditary Cancer Genes MyRisk® Cancer 2017 Published Manuscripts 130
      Inherited Mutations in Men Undergoing Multigene Panel Testing for Prostate Cancer: Emerging Implications for Personalized Prostate Cancer Genetic Evaluation MyRisk® JCO Precision Oncology 2017 Published Manuscripts 131
      Clinical Variant Classification: A Comparison of Public Databases and a Commercial Testing Laboratory Other The Oncologist 2017 Published Manuscripts 132
      Breast and Ovarian Cancer Penetrance Estimates Derived From Germline Multiple-Gene Sequencing Results in Women MyRisk® JCO Precision Oncology 2017 Published Manuscripts 133
      A Multigene Signature Based on Cell Cycle Proliferation Improves Prediction of Mortality Within 5 Yr of Radical Nephrectomy for Renal Cell Carcinoma Other European Urology 2017 Published Manuscripts 135
      Complexities of Variant Classification in Clinical Hereditary Cancer Genetic Testing Other Journal of Clinical Oncology 2017 Published Manuscripts 136
      Identification of pathogenic retrotransposon insertions in cancer predisposition genes MyRisk® Cancer Genetics 2017 Published Manuscripts 138
      Clinical testing with a panel of 25 genes associated with increased cancer risk results in a significant increase in clinically significant findings across a broad range of cancer histories MyRisk® Cancer Genetics 2017 Published Manuscripts 139
      Optimization of quality assurance to increase clinical utility and cost effectiveness of hereditary cancer testing MyRisk® Personalized Medicine 2017 Published Manuscripts 140
      Homologous recombination deficiency (HRD) status predicts response to standard neoadjuvant chemotherapy in patients with triple‑negative or BRCA1/2 mutation‑associated breast cancer Breast Cancer Research and Treatment 2017 Published Manuscripts 141
      Prognostic Utility of Biopsy-Derived Cell Cycle Progression Score in Patients with NCCN Low-Risk Prostate Cancer Undergoing Radical Prostatectomy: Implications for Treatment Guidance Prolaris® BJU International 2017 Published Manuscripts 142
      Analytical validation of a 12-gene molecular test for the prediction of distant recurrence in breast cancer EndoPredict® Future Science OA 2017 Published Manuscripts 143
      Cell cycle progression score is a marker for five-year lung cancer–specific mortality risk in patients with resected stage I lung adenocarcinoma Other Oncotarget 2016 Published Manuscripts 144
      Prediction of distant recurrence in resected stage I and II lungadenocarcinoma Other Lung Cancer 2016 Published Manuscripts 145
      Germline multi-gene hereditary cancer panel testing in an unselected endometrial cancer cohort MyRisk® Modern Pathology 2016 Published Manuscripts 147
      Precision medicine and companion diagnostics join the battle against ovarian cancer MLO: Medical Laboratory Observer 2016 Published Manuscripts 148
      Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer MyRisk® JAMA Oncology 2016 Published Manuscripts 150
      Use of the cell cycle progression (CCP) score for predicting systemic disease and response to radiation of biochemical recurrence Prolaris® Cancer Biomarkers 2016 Published Manuscripts 152
      Impact of Payer Constraints on Access to Genetic Testing Other Precision Medicine 2016 Published Manuscripts 153
      Hereditary cancer testing in patients with ovarian cancer using a 25-gene panel MyRisk® The Journal of Community and Supportive Oncology 2016 Published Manuscripts 154
      Caring for Patients With Prostate Cancer Who Are BRCA Positive Other Federal Practitioner 2016 Published Manuscripts 155
      Increased Identification of Candidates for High-Risk Breast Cancer Screening Through Expanded Genetic Testing MyRisk® Journal of the American College of Radiology 2016 Published Manuscripts 157
      Impact of the CCP test on physician and patient treatment selection for localized prostate cancer Prolaris® The Journal of Urology 2016 Published Manuscripts 158
      Cost-Utility of a Prognostic Test Guiding Adjuvant Chemotherapy Decisions in Early-Stage Non-Small Cell Lung Cancer Other The Oncologist 2016 Published Manuscripts 159
      Homologous Recombination Deficiency (HRD) Score Predicts Response to Platinum-Containing Neoadjuvant Chemotherapy in Patients with Triple-Negative Breast Cancer Clinical Cancer Research 2016 Published Manuscripts 160
      Intratumor heterogeneity of homologous recombination deficiency in primary breast cancer Clinical Cancer Research 2016 Published Manuscripts 161
      Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer MyRisk® Journal of Clinical Oncology 2016 Published Manuscripts 162
      Cell cycle progression score predicts metastatic progression of clear cell renal cell carcinoma after resection Other Cancer Biomarkers 2015 Published Manuscripts 163
      Validation of a Molecular and Pathological Model for Five-Year Mortality Risk in Patients with Early Stage Lung Adenocarcinoma Other Journal of Thoracic Oncology 2015 Published Manuscripts 164
      Validation of an RNA cell cycle progression score for predicting death from prostate cancer in a conservatively managed needle biopsy cohort Prolaris® British Journal of Cancer 2015 Published Manuscripts 168
      TBCRC009: A Multicenter Phase II Clinical Trial of Platinum Monotherapy With Biomarker Assessment in Metastatic Triple-Negative Breast Cancer Journal of Clinical Oncology 2015 Published Manuscripts 169
      Phase II neoadjuvant clinical trial of carboplatin and eribulin in women with triple negative early-stage breast cancer (NCT01372579) Breast Cancer Research and Treatment 2015 Published Manuscripts 170
      Structure of the human MLH1 N-terminus: implications for predisposition to Lynch syndrome Other Structural Biology Communications 2015 Published Manuscripts 171
      Lynch Syndrome Patients with Limited Family History Identified in a Laboratory Setting: A Descriptive Study Other Clinical Translational Research 2015 Published Manuscripts 172
      Stratification of Resectable Lung Adenocarcinoma by Molecular and Pathological Risk Estimators Other European Journal of Cancer 2015 Published Manuscripts 173
      Development and analytical validation of a 25-gene next generation sequencing panel that includes the BRCA1 and BRCA2 genes to assess hereditary cancer risk MyRisk® BMC Cancer 2015 Published Manuscripts 174
      Exceptions to the rule: Case studies in the prediction of pathogenicity for genetic variants in hereditary cancer genes MyRisk® Clinical Genetics 2015 Published Manuscripts 175
      Patients Tested at a Laboratory for Hereditary Cancer Syndromes Show an Overlap for Multiple Syndromes in Their Personal and Familial Cancer Histories MyRisk® Clinical Translational Research 2015 Published Manuscripts 176
      Phase II Study of Gemcitabine, Carboplatin, and Iniparib As Neoadjuvant Therapy for Triple-Negative and BRCA1/2 Mutation–Associated Breast Cancer With Assessment of aTumor-Based Measure of Genomic Instability: PrECOG 0105 Journal of Clinical Oncology 2015 Published Manuscripts 178
      Comparison of locus-specific databases for BRCA1 and BRCA2 variants reveals disparity in variant classification within and among databases Journal of Community Genetics 2015 Published Manuscripts 179
      Analytical validation of a proliferation-based molecular signature used as a prognostic marker in early stage lung adenocarcinoma Other Biomarkers in Medicine 2015 Published Manuscripts 180
      Analytical Validation of a Cell Cycle Progression Signature Used as a Prognostic Marker in Prostate Cancer Prolaris® Journal of Molecular Biomarkers and Diagnosis 2015 Published Manuscripts 181
      Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome MyRisk® Gastroenterology 2015 Published Manuscripts 182
      BRCA1, BRCA2, PALB2, and CDKN2A mutations in familial pancreatic cancer: a PACGENE study MyRisk® Genetics in Medicine 2015 Published Manuscripts 183
      Association of BRCA1/2 defects with genomic scores predictive of DNA damage repair deficiency among breast cancer subtypes Breast Cancer Research 2014 Published Manuscripts 184
      Prognostic Utility of the Cell Cycle Progression Score Generated from Biopsy in Men Treated with Prostatectomy Prolaris® The Journal of Urology 2014 Published Manuscripts 185
      Cell cycle progression score and treatment decisions in prostate cancer: results from an ongoing registry Prolaris® Current Medical Research and Opinion 2014 Published Manuscripts 187
      A comprehensive laboratory-based program for classification of variants of uncertain significance in hereditary cancer genes Other Clinical Genetics 2014 Published Manuscripts 188
      Analysis of current testing practices for biallelic MUTYH mutations in MUTYH-associated polyposis MyRisk® Clinical Genetics 2014 Published Manuscripts 191
      Design and validation of an oligonucleotide microarray for the detection of genomic rearrangements associated with common hereditary cancer syndromes MyRisk® Journal of Experimental & Clinical Cancer Research 2014 Published Manuscripts 192
      PTEN Loss in Biopsy Tissue Predicts Poor Clinical Outcomes in Prostate Cancer Prolaris® International Journal of Urology 2014 Published Manuscripts 193
      Development and validation of a new algorithm for the reclassification of genetic variants identified in the BRCA1 and BRCA2 genes Breast Cancer Research and Treatment 2014 Published Manuscripts 194
      Incidence of BRCA1 and BRCA2 non-founder mutations in patients of Ashkenazi Jewish ancestry Breast Cancer Research and Treatment 2014 Published Manuscripts 195
      Frequency of Mutations in Individuals With Breast Cancer Referred for BRCA1 and BRCA2 Testing Using Next-Generation Sequencing With a 25-Gene Panel MyRisk® Cancer 2014 Published Manuscripts 197
      Validation of a Cell-Cycle Progression Gene Panel to Improve Risk Stratification in a Contemporary Prostatectomy Cohort Prolaris® Journal of Clinical Oncology 2013 Published Manuscripts 198
      Prognostic Utility of Cell Cycle Progression Score in Men With Prostate Cancer After Primary External Beam Radiation Therapy Prolaris® International Journal of Radiation Oncology 2013 Published Manuscripts 199
      Validation of a Proliferation-Based Expression Signature as Prognostic Marker in Early Stage Lung Adenocarcinoma Other Clinical Cancer Research 2013 Published Manuscripts 200
      Prognostic value of PTEN loss in men with conservatively managed localised prostate cancer Prolaris® British Journal of Cancer 2013 Published Manuscripts 201
      Functional evaluation of BRCA2 variants mapping to the PALB2-binding and C-terminal DNA-binding domains using a mouse ES cell-based assay Human Molecular Genetics 2012 Published Manuscripts 202
      Clinical Significance of Large Rearrangements in BRCA1 and BRCA2 Cancer 2012 Published Manuscripts 203
      Pharmacogenomics of Clozapine-induced agranulocytosis: a systematic review and meta-analysis GeneSight® The Pharmacogenomics Journal 2022 Published Manuscripts 204
      Clinical utility of combinatorial pharmacogenomic testing in depression: A Canadian patient- and rater-blinded, randomized, controlled trial GeneSight® Translational Psychiatry 2022 Published Manuscripts 205
      Combinatorial pharmacogenomic algorithm is predictive of sertraline metabolism in patients with major depressive disorder GeneSight® Psychiatry Research 2022 Published Manuscripts 206
      Hereditary cancer risk assessment and genetic testing in the community urology practice setting MyRisk® The Prostate 2022 Published Manuscripts 209
      The impact of HBB-related hemoglobinopathies carrier status on fetal fraction in noninvasive prenatal screening Prequel® Prenatal Diagnosis 2022 Published Manuscripts 210
      Development and validation of a cell cycle progression signature for decentralized testing of men with prostate cancer Prolaris® Biomarkers in Medicine 2022 Published Manuscripts 211
      Clinical Validation of EndoPredict in Pre-Menopausal Women with ER-Positive, HER2-Negative Primary Breast Cancer EndoPredict® Clinical Cancer Research 2022 Published Manuscripts 212
      Pancreatic Ductal Carcinoma Risk Associated With Hereditary Cancer-Risk Genes MyRisk® Journal of the National Cancer Institute 2022 Published Manuscripts 214
      Cell Cycle Progression Score, But Not PTEN Loss, Is an Independent Prognostic Factor for Metastasis in Intermediate- and High-Risk Prostate Cancer in Men Treated with and without Salvage Radiotherapy Prolaris® The Journal of Urology 2022 Published Manuscripts 215
      The Clinical Cell-Cycle Risk (CCR) Score Is Associated With Metastasis After Radiation Therapy and Provides Guidance on When to Forgo Combined Androgen Deprivation Therapy With Dose-Escalated Radiation Prolaris® International Journal of Radiation Oncology, Biology, Physics 2022 Published Manuscripts 216
      Genetic counseling student rotations in industry: How COVID-19 magnified the urgency for virtual learning options in diverse training settings Other Journal of Genetic Counseling 2021 Published Manuscripts 217
      Carboplatin in BRCA1/2-mutated and triple-negative breast cancer BRCAness subgroups: the TNT Trial Nature Medicine 2018 Published Manuscripts 218
      Patterns of genomic loss of heterozygosity predict homologous recombination repair defects in epithelial ovarian cancer British Journal of Cancer 2012 Published Manuscripts 219
      Characterisation of homologous recombination deficiency in paired primary and recurrent high-grade serous ovarian cancer British Journal of Cancer 2018 Published Manuscripts 222
      Homologous Recombination Deficiency: Concepts, Definitions, and Assays The Oncologist 2022 Published Manuscripts 223
      Using a pharmacogenomic algorithm to guide the treatment of depression GeneSight® Translational Psychiatry 2012 Published Manuscripts 224
      Utility of integrated pharmacogenomic testing to support the treatment of major depressive disorder in a psychiatric outpatient setting GeneSight® Pharmacogenetics and Genomics 2013 Published Manuscripts 225
      A Prospective, Randomized, Double-Blind Study Assessing the Clinical Impact of Integrated Pharmacogenomic Testing for Major Depressive Disorder GeneSight® Discovery Medicine 2013 Published Manuscripts 226
      Psychiatric pharmacogenomics predicts health resource utilization of outpatients with anxiety and depression GeneSight® Translational Psychiatry 2013 Published Manuscripts 227
      Combinatorial pharmacogenomic guidance for psychiatric medications reduces overall pharmacy costs in a 1 year prospective evaluation GeneSight® Current Medical Research and Opinion 2015 Published Manuscripts 228
      The clinical validity and utility of combinatorial pharmacogenomics: Enhancing patient outcomes GeneSight® Applied and Translational Genomics 2015 Published Manuscripts 229
      Clinical validity: Combinatorial pharmacogenomics predicts antidepressant responses and healthcare utilizations better than single gene phenotypes GeneSight® The Pharmacogenomics Journal 2015 Published Manuscripts 230
      Clinical Utility of Combinatorial Pharmacogenomics-Guided Antidepressant Therapy: Evidence from Three Clinical Studies GeneSight® Molecular Neuropsychiatry 2015 Published Manuscripts 231
      Use of combinatorial pharmacogenomic testing in two cases from community psychiatry GeneSight® Pharmacogenomics and Personalized Medicine 2016 Published Manuscripts 233
      Combinatorial Versus Individual Gene Pharmacogenomic Testing in Mental Health: A Perspective on Context and Implications on Clinical Utility GeneSight® Yale Journal of Biology and Medicine 2015 Published Manuscripts 234
      Characterisation of seven medications approved for attention-deficit/hyperactivity disorder using in vitro models of hepatic metabolism GeneSight® Xenobiotica 2022 Published Manuscripts 250
      A phase II study of talazoparib monotherapy in patients with wild-type BRCA1 and BRCA2 with a mutation in other homologous recombination genes Nature Cancer 2022 Published Manuscripts 251
      Development and Validation of a Breast Cancer Polygenic Risk Score on the Basis of Genetic Ancestry Composition RiskScore® JCO Precision Oncology 2022 Published Manuscripts 252
      Pharmacogenomic Profiling of Pediatric Patients on Psychotropic Medications in an Emergency Department GeneSight® Pediatric Emergency Care 2023 Published Manuscripts 254
      Clinical utility of expanded carrier screening: results-guided actionability and outcomes Foresight® Genetics in Medicine 2019 Published Manuscripts 255
      Homologous Recombination Deficiency as an Q1 Ovarian Cancer Biomarker in a Real-World Cohort Validation of Decentralized Genomic Profiling The Journal of Molecular Diagnostics 2022 Published Manuscripts 257
      Cisplatin with veliparib or placebo in metastatic triple-negative breast cancer and BRCA mutation-associated breast cancer (S1416): a randomised, double-blind, placebo-controlled, phase 2 trial Lancet Oncology 2023 Published Manuscripts 259
      Association of Genomic Instability Score, Tumor Mutational Burden, and Tumor Infiltrating Lymphocytes as Biomarkers in Uterine Serous Carcinoma Cancers (Basel) 2023 Published Manuscripts 260
      Cancer Risk Associated With PTEN Pathogenic Variants Identified Using Multigene Hereditary Cancer Panel Testing MyRisk® JCO Precision Oncology 2023 Published Manuscripts 261
      Systematic mapping review of guidelines for BRCA1/2 genetic testing globally: investigating geographic and regional disparities in health equity for women and families at risk for hereditary ovarian cancer MyRisk® Interntional Journal of Gynecological Cancer 2023 Published Manuscripts 262
      Discordance between germline genetic findings and abnormal tumor immunohistochemistry staining of mismatch repair proteins in individuals with suspected Lynch syndrome MyRisk® Frontiers in Oncology 2023 Published Manuscripts 263
      Elevated Matrix Metalloproteinase 9 in Treatment Resistant Bipolar Depression GeneSight® Clinical and Experimental Health Sciences 2023 Published Manuscripts 264
      Expanded carrier screening: What conditions should we screen for? Foresight® Prenatal Diagnosis 2023 Published Manuscripts 268
      The association between age at breast cancer diagnosis and prevalence of pathogenic variants MyRisk® Breast Cancer Research and Treatment 2023 Published Manuscripts 269
      Homologous recombination deficiency in newly diagnosed FIGO stage III/IV high-grade epithelial ovarian cancer: a multi-national observational study International Journal of Gynecologial Cancer 2023 Published Manuscripts 270
      Single nucleotide polymorphisms in C-reactive protein (CRP) predict response to adjunctive celecoxib treatment of resistant bipolar depression GeneSight® Brain, Behavior, & Immunity - Health 2023 Published Manuscripts 271
      The landscape of BRCA1 and BRCA2 large rearrangements in an international cohort of over 20 000 ovarian tumors identified using next-generation sequencing Genes, Chromosomes and Cancer 2023 Published Manuscripts 272
      Identifying homologous recombination deficiency in breast cancer: genomic instability score distributions differ among breast cancer subtypes Breast Cancer Research and Treatment 2023 Published Manuscripts 275
      Personalized Prediction of Multimodal Treatment Benefit Using Genomic Testing Prolaris® AUANews 2023 Published Manuscripts 279
      Dual Prognostic Classification of Triple-Negative Breast Cancer by DNA Damage Immune Response and Homologous Recombination Deficiency JCO Precision Oncology 2023 Published Manuscripts 281
      Breast and colorectal cancer risks among over 6,000 CHEK2 pathogenic variant carriers: A comparison of missense versus truncating variants MyRisk® Cancer Genetics 2023 Published Manuscripts 282
      Assessment of in silico protein sequence analysis in the clinical classification of variants in cancer risk genes MyRisk® Journal of Community Genetics 2017 Published Manuscripts 283
      Classification of genetic variants in genes associated with Lynch syndrome using a clinical history weighting algorithm MyRisk® BMC Genetics 2016 Published Manuscripts 284
      Hereditary cancer-associated mutations in women diagnosed with two primary cancers: an opportunity to identify hereditary cancer syndromes after the first cancer diagnosis MyRisk® Oncology 2015 Published Manuscripts 288
      Comprehensive sequencing of PALB2 in patients with breast cancer suggests PALB2 mutations explain a subset of hereditary breast cancer MyRisk® Cancer 2014 Published Manuscripts 289
      Comparison of risk classification between EndoPredict and MammaPrint in ER-positive/HER2-negative primary invasive breast cancer EndoPredict® PLOS One 2017 Published Manuscripts 290
      Breast Cancer Prognostic Tests: Helping Patients Understand Testing Results and Their Implications EndoPredict® Clinical Journal of Oncology Nursing 2019 Published Manuscripts 291
      Clinical impact and cost-effectiveness of a 176-condition expanded carrier screen Foresight® Genetics in Medicine 2019 Published Manuscripts 293
      Inaccuracies and shortcomings in “Adherence of cell-free DNA noninvasive prenatal screens to ACMG recommendations” Prequel® Genetics in Medicine 2019 Published Manuscripts 294
      Strategies to minimize false positives and interpret novel microdeletions based on maternal copy-number variants in 87,000 noninvasive prenatal screens Prequel® BMC Medical Genomics 2018 Published Manuscripts 295
      Clinical Utilization of Pharmacogenetics in Psychiatry - Perspectives of Pharmacists, Genetic Counselors, Implementation Science, Clinicians, and Industry GeneSight® Pharmacopsychiatry 2019 Published Manuscripts 296
      Response to: Goldberg et al. and Severance et al. Letters to the Editor: The clinical significance of improving remission over standard of care – The reality of treatment resistant-based therapies GeneSight® Journal of Psychiatric Research 2019 Published Manuscripts 297
      Cell-cycle risk score more accurately determines the risk for metastases and death in prostatectomy patients compared with clinical features alone Prolaris® The Prostate 2021 Published Manuscripts 300
      Enumeration and targeted analysis of KRAS, BRAF and PIK3CA mutations in CTCs captured by a label-free platform: Comparison to ctDNA and tissue in metastatic colorectal cancer MyRisk® Oncotarget 2016 Published Manuscripts 302
      The PREMM1,2,6 Model Predicts Risk of MLH1, MSH2, and MSH6 Germline Mutations Based on Cancer History MyRisk® Gastroenterology 2011 Published Manuscripts 303
      Prediction of MLH1 and MSH2 mutations in Lynch syndrome MyRisk® JAMA 2006 Published Manuscripts 304
      Detecting clinically actionable variants in the 3' exons of PMS2 via a reflex workflow based on equivalent hybrid capture of the gene and its pseudogene MyRisk® BMC Medical Genetics 2018 Published Manuscripts 305
      Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel Foresight® Genetics in Medicine 2019 Published Manuscripts 306
      Prenatal genetic counselors' practices and confidence level when counseling on cancer risk identified on expanded carrier screening Foresight® Journal of Genetic Counseling 2019 Published Manuscripts 307
      Strategies for Improving Access to Hereditary Cancer Testing: Recommendations from Stakeholders MyRisk® Genetics in Medicine 2019 Published Manuscripts 308
      Software-Assisted Manual Review of Clinical Next-Generation Sequencing Data: An Alternative to Routine Sanger Sequencing Confirmation with Equivalent Results in >15,000 Germline DNA Screens MyRisk® Journal of Molecular Diagnostics 2019 Published Manuscripts 309
      Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel MyRisk® Human Mutation 2018 Published Manuscripts 310
      Inherited Cancer in the Age of Next-Generation Sequencing MyRisk® Biological Research For Nursing 2018 Published Manuscripts 311
      Validation of a digital identification tool for individuals at risk for hereditary cancer syndromes MyRisk® Hereditary Cancer in Clinical Practice 2019 Published Manuscripts 312
      Clinical Utility of Expanded Carrier Screening: Reproductive Behaviors of At-Risk Couples Foresight® Journal of Genetic Counseling 2017 Published Manuscripts 313
      Systematic design and comparison of expanded carrier screening panels Foresight® Genetics in Medicine 2017 Published Manuscripts 314
      Smith-Lemli-Opitz syndrome carrier frequency and estimates of in utero mortality rates Foresight® Prenatal Diagnosis 2017 Published Manuscripts 315
      Development and validation of a 36-gene sequencing assay for hereditary cancer risk assessment MyRisk® Peer J 2017 Published Manuscripts 316
      Letter to the Editor: Prenatal Carrier Screening Foresight® JAMA 2016 Published Manuscripts 317
      Tay-Sachs Carrier Screening by Enzyme and Molecular Analyses in the New York City Minority Population Foresight® Genetic Testing and Molecular Biomarkers 2016 Published Manuscripts 318
      Modeled Fetal Risk of Genetic Diseases Identified by Expanded Carrier Screening Foresight® JAMA 2016 Published Manuscripts 319
      Re: Carrier Screening is a Deficient Strategy for Determining Sperm Donor Eligibility and Reducing Risk of Disease in Recipient Children (From: Silver AJ, Larson JL, Silver MJ, et al. Genet Test Mol Biomarkers 2016;20:276–284) Foresight® Genetic Testing and Molecular Biomarkers 2016 Published Manuscripts 320
      Design and validation of a next generation sequencing assay for hereditary BRCA1 and BRCA2 mutation testing MyRisk® Peer J 2016 Published Manuscripts 321
      Carrier screening in the era of expanding genetic technology Foresight® Genetics in Medicine 2016 Published Manuscripts 322
      Current controversies in traditional and expanded carrier screening Foresight® Obstetrics and Gynecology 2016 Published Manuscripts 323
      Expanded carrier screening: A review of early implementation and literature Foresight® Seminars in Perinatology 2016 Published Manuscripts 324
      Changing trends in carrier screening for genetic disease in the United States Foresight® Prenatal Diagnosis 2015 Published Manuscripts 325
      Understanding the Basics of NGS: From Mechanism to Variant Calling Foresight® Current Genetic Medicine Reports 2015 Published Manuscripts 326
      Systematic Classification of Disease Severity for Evaluation of Expanded Carrier Screening Panels Foresight® PLOS One 2014 Published Manuscripts 327
      Detection of Carriers in the Ashkenazi Jewish Population: An Objective Comparison of High-Throughput Genotyping Versus Gene-by-Gene Testing Foresight® Genetic Testing and Molecular Biomarkers 2013 Published Manuscripts 328
      Response to Stoll and Resta Foresight® Genetics in Medicine 2013 Published Manuscripts 329
      An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals Foresight® Genetics in Medicine 2012 Published Manuscripts 330
      Serendipitous diagnosis of mild recessive multiple epiphyseal dysplasia through parental-targeted screening test Foresight® American Journal of Medical Genetics Part A 2011 Published Manuscripts 332
      A universal carrier test for the long tail of Mendelian disease Foresight® Reproductive BioMedicine Online 2010 Published Manuscripts 333
      Technology-Driven Noninvasive Prenatal Screening Results Disclosure and Management Prequel® Telemedicine and e-Health 2020 Published Manuscripts 334
      Industry perspectives on prenatal genetic testing Prequel® Seminars in Perinatology 2018 Published Manuscripts 335
      Noninvasive prenatal screening at low fetal fraction: comparing whole-genome sequencing and single-nucleotide polymorphism methods Prequel® Prenatal Diagnosis 2017 Published Manuscripts 337
      Group Testing Approach for Trinucleotide Repeat Expansion Disorder Screening Foresight® Clinical Chemistry 2016 Published Manuscripts 338
      Adequate evidence to support improved outcomes in depression by primary care physicians compared to psychiatrists when using combinatorial pharmacogenomics GeneSight® Journal of Psychiatric Research 2019 Published Manuscripts 339
      Beta-defensin 1, aryl hydrocarbon receptor and plasma kynurenine in major depressive disorder: metabolomics-informed genomics GeneSight® Translational Psychiatry 2018 Published Manuscripts 340
      Preservation of Biospecimens at Ambient Temperature: Special Focus on Nucleic Acids and Opportunities for the Biobanking Community GeneSight® Biopreservation and Biobanking 2016 Published Manuscripts 341
      Stress and glucocorticoid receptor transcriptional programming in time and space: Implications for the brain-gut axis GeneSight® Neurogastroenterology and Motility 2016 Published Manuscripts 342
      A glutamatergic network mediates lithium response in bipolar disorder as defined by epigenome pathway analysis GeneSight® Pharmacogenomics 2015 Published Manuscripts 343
      Epigenomic mapping and effect sizes of noncoding variants associated with psychotropic drug response GeneSight® Pharmacogenomics 2015 Published Manuscripts 344
      The epigenome, 4D nucleome and next-generation neuropsychiatric pharmacogenomics GeneSight® Pharmacogenomics 2015 Published Manuscripts 345
      Prognostic value of an RNA expression signature derived from cell cycle proliferation genes in patients with prostate cancer: a retrospective study Prolaris® Lancet Oncology 2011 Published Manuscripts 346
      Clinical Utility of Gene Expression Classifiers in Men With Newly Diagnosed Prostate Cancer Prolaris® JCO Precision Oncology 2018 Published Manuscripts 347
      Tumour-based Mutational Profiles Predict Visceral Metastasis Outcome and Early Death in Prostate Cancer Patients European Urology Oncology 2024 Published Manuscripts 348
      Cancer Susceptibility Gene Mutations in Individuals With Colorectal Cancer MyRisk® Journal of Clinical Oncology 2017 Published Manuscripts 349
      The genomic expression test EndoPredict is a prognostic tool for identifying risk of local recurrence in postmenopausal endocrine receptor-positive, her2neu-negative breast cancer patients randomised within the prospective ABCSG 8 trial EndoPredict® British Journal of Cancer 2015 Published Manuscripts 350
      EndoPredict predicts for the response to neoadjuvant chemotherapy in ER-positive, HER2-negative breast cancer EndoPredict® Cancer Letters 2014 Published Manuscripts 351
      A New Molecular Predictor of Distant Recurrence in ER-Positive, HER2-Negative Breast Cancer Adds Independent Information to Conventional Clinical Risk Factors EndoPredict® Clinical Cancer Research 2011 Published Manuscripts 352
      Decision impact and feasibility of different ASCO-recommended biomarkers in early breast cancer: Prospective comparison of molecular marker EndoPredict and protein marker uPA/PAI-1 EndoPredict® PLOS One 2017 Published Manuscripts 353
      The EndoPredict Gene-Expression Assay in Clinical Practice - Performance and Impact on Clinical Decisions EndoPredict® PLOS One 2013 Published Manuscripts 354
      Preanalytical variables and performance of diagnostic RNA-based gene expression analysis in breast cancer EndoPredict® Virchows Archiv 2014 Published Manuscripts 355
      Decentral gene expression analysis: analytical validation of the Endopredict genomic multianalyte breast cancer prognosis test EndoPredict® BMC Cancer 2012 Published Manuscripts 356
      Decentral gene expression analysis for ER+/Her2− breast cancer: results of a proficiency testing program for the EndoPredict assay EndoPredict® Virchows Archiv 2012 Published Manuscripts 357
      Comparison of the RNA-based EndoPredict multigene test between core biopsies and corresponding surgical breast cancer sections EndoPredict® Journal of Clinical Pathology 2012 Published Manuscripts 358
      Quantitative Determination of Estrogen Receptor, Progesterone Receptor, and HER2 mRNA in Formalin-fixed Paraffin-embedded Tissue—A New Option for Predictive Biomarker Assessment in Breast Cancer EndoPredict® Diagnostic Molecular Pathology 2011 Published Manuscripts 359
      From High-Throughput Microarray-Based Screening to Clinical Application: The Development of a Second Generation Multigene Test for Breast Cancer Prognosis EndoPredict® High-Throughout 2013 Published Manuscripts 360
      Comparison of EndoPredict and Oncotype DX Test Results in Hormone Receptor Positive Invasive Breast Cancer EndoPredict® PLOS One 2013 Published Manuscripts 361
      Multi-gene assays: effect on chemotherapy use, toxicity and cost in estrogen receptor-positive early stage breast cancer EndoPredict® Journal of Comparative Effectiveness Research 2019 Published Manuscripts 362
      Clinical relevance and concordance of HER2 status in local and central testing—an analysis of 1581 HER2-positive breast carcinomas over 12 years EndoPredict® Modern Pathology 2018 Published Manuscripts 363
      Prognostic ability of EndoPredict compared to research-based versions of the PAM50 risk of recurrence (ROR) scores in node-positive, estrogen receptor-positive, and HER2-negative breast cancer. A GEICAM/9906 sub-study EndoPredict® Breast Cancer Research and Treatment 2016 Published Manuscripts 364
      Prognostic Significance of VEGFC and VEGFR1 mRNA Expression According to HER2 Status in Breast Cancer: A Study of Primary Tumors from Patients with High-risk Early Breast Cancer Participating in a Randomized Hellenic Cooperative Oncology Group Trial EndoPredict® Anticancer Research 2015 Published Manuscripts 365
      Tumor-infiltrating lymphocytes and response to neoadjuvant chemotherapy with or without carboplatin in human epidermal growth factor receptor 2-positive and triple-negative primary breast cancers EndoPredict® Journal of Clinical Oncology 2015 Published Manuscripts 366
      Concordance between an FDA-approved companion diagnostic and an alternative assay kit for assessing homologous recombination deficiency in ovarian cancer Gynecologic Oncology 2024 Published Manuscripts 367
      Equity in the Laboratory: Expanding the Role of Genetic Counselors Other The Journal of Applied Laboratory Medicine 2024 Published Manuscripts 368
      Systematic analysis of HRD testing in ovarian cancer – development of recommendations for optimal assay performance Modern Pathology 2024 Published Manuscripts 371
      High positive predictive value 22q11.2 microdeletion screening by prenatal cell-free DNA testing that incorporates fetal fraction amplification Prequel® Prenatal Diagnosis 2024 Published Manuscripts 373
      Using the Cell-Cycle Risk Score to Predict the Benefit of Androgen-Deprivation Therapy Added to Radiation Therapy in Patients With Newly Diagnosed Prostate Cancer Prolaris® JCO Precision Oncology 2024 Published Manuscripts 374
      Validation of a clinical breast cancer risk assessment tool combining a polygenic score for all ancestries with traditional risk factors RiskScore® Genetics in Medicine 2024 Published Manuscripts 376
      Online Screening and Virtual Patient Education for Hereditary Cancer Risk Assessment and Testing MyRisk® Obstetrics and Gynecology 2024 Published Manuscripts 377
      Fetal fraction amplification within prenatal cfDNA screening enables detection of genome-wide copy-number variants at enhanced resolution Prequel® Genetics in Medicine 2024 Published Manuscripts 378
      Curation and reporting of pathogenic genome-wide copy-number variants in a prenatal cell-free DNA screen Prequel® Genetics in Medicine 2024 Published Manuscripts 379
      Active surveillance selection and 3-year durability in intermediate-risk prostate cancer following genomic testing Prolaris® Prostate Cancer and Prostatic Disease 2024 Published Manuscripts 380
      Screening Positive for Rare Autosomal Aneuploidies Increases Frequency of Adverse Pregnancy Outcomes and Alters Clinical Management Prequel® Prenatal Diagnosis 2025 Published Manuscripts 382
      Validation of an Expanded Carrier Screen that Optimizes Sensitivity via Full-Exon Sequencing and Panel-wide Copy Number Variant Identification Foresight® Clinical Chemistry 2018 Published Manuscripts 383
      Association of Polygenic-Based Breast Cancer Risk Prediction With Patient Management RiskScore® JCO Precision Oncology 2025 Published Manuscripts 384
      Breast Cancer Risk Modification in Women with Pathogenic Variants in BRCA1, BRCA2, ATM, CHEK2, and PALB2 MyRisk® Cancer Research Communications 2025 Published Manuscripts 385
      Meta-analysis of Response and Remission Outcomes With a Weighted Multigene Pharmacogenomic Test for Adults With Depression GeneSight® Journal of Clinical Psychopharmacology 2025 Published Manuscripts 386
      Real-World Impact of Pharmacogenomic Testing on Medication Use and Healthcare Resource Utilization in Patients With Major Depressive Disorder GeneSight® Journal of Clinical Psychopharmacology Published Manuscripts 387
      Real-world pharmacotherapy treatment patterns among patients diagnosed with postpartum depression in the United States GeneSight® BMC Psychiatry 2025 Published Manuscripts 388
      Breast Cancer MRI Screening of Patients After Multiplex Gene Panel Testing MyRisk® JAMA Network Open 2025 Published Manuscripts 389
      Real-World Impact of Pharmacogenomic Testing on Medication Use and Healthcare Resource Utilization in Patients With Major Depressive Disorder GeneSight® Journal of Clinical Pharmacology 2025 Published Manuscripts 390
      Adherence to EndoPredict test scores for extended endocrine therapy management in the prospective EndoPredict Extended Endocrine Trial (EXET) EndoPredict® ASCO 2022 Poster Presentations 1
      A Tale of Two Hbs: DNA Sequencing and Hemoglobin Electrophoresis Foresight® ACMG 2022 Poster Presentations 2
      Fetal fraction amplification within NIPS enables detection of clinically relevant genome-wide copy number variants to 1Mb resolution Prequel® ACMG 2022 Poster Presentations 3
      The Impact of Combinatorial Pharmacogenomic Testing on Outcomes in Black and Hispanic Patients GeneSight® APA 2022 Poster Presentations 5
      Ancestry-specific risk of triple-negative breast cancer associated with germline pathogenic variants in hereditary cancer predisposition genes MyRisk® ASCO 2022 Poster Presentations 6
      Real-world clinical characteristics and management of breast cancer in patients with germline pathogenic variants in ATM, CHEK2, and PALB2 MyRisk® ACMG 2022 Poster Presentations 4
      Global Assessment of BRCA1/2 Genetic Testing Guidelines: Investigating Geographic and Regional Disparities in Health Equity for Women and Families at Risk for Hereditary Ovarian Cancer Other IGCS 2022 Poster Presentations 14
      Exploring homologous recombination deficiency thresholds for predicting response to platinum-based treatment in triple negative breast cancer ASCO 2022 Poster Presentations 8
      A Tale of Two Hbs: DNA Sequencing and Hemoglobin Electrophoresis Foresight® ISPD 2022 Poster Presentations 11
      A Combinatorial Pharmacogenomic Algorithm is Predictive of Sertraline Metabolism in Patients with Major Depressive Disorder GeneSight® CPIC-PGRN 2022 Poster Presentations 9
      Genomic Large Rearrangements (LRs) in HRR genes in high-grade ovarian carcinomas DGP 2022 Poster Presentations 10
      Integration of an Ancestry-Inclusive Polygenic Risk Score with the Tyrer-Cuzick Breast Cancer Risk Model RiskScore® NCBC 2022 Poster Presentations 12
      A Breast Cancer Risk Model Incorporating Tyrer-Cuzick Version 8 and a Polygenic Risk Score for Diverse Ancestries RiskScore® ASCO 2022 Poster Presentations 7
      Rates of homologous recombination deficiency across different subtypes of ovarian cancer and in pre- and post-neoadjuvant chemotherapy tumor samples SGO 2022 Poster Presentations 13
      Pharmacogenomic Testing to Inform Prescribing in Patients with Behavioral and Psychiatric Symptoms of Dementia (BPSD): Results from Two Small, Randomized, Controlled Trials GeneSight® AAGP 2021 Poster Presentations 19
      Improving Inequities in Prenatal Screening: Time to Modernize Guidelines Other ACNM 2021 Poster Presentations 22
      Expanded Carrier Screening: Adherence to Panel Criteria and Efficiency of At-Risk Couple Detection Foresight® ACOG 2021 Poster Presentations 26
      Combinatorial Pharmacogenomic Testing Improves Response and Remission Rates in Patients with Depression GeneSight® AAAS 2021 Poster Presentations 17
      Fetal fraction amplification within NIPS enables detection of clinically relevant genome-wide copy number variants to 1Mb resolution Prequel® SMFM 2022 Poster Presentations 16
      A Combinatorial Pharmacogenomic Algorithm is Predictive of Sertraline Metabolism in Patients with Major Depressive Disorder GeneSight® ACNP 2021 Poster Presentations 23
      Fetal Fraction Amplification in NIPS Supports Equitable Care for Ethnically- and BMI-diverse Patients Prequel® NPWH 2022 Poster Presentations 15
      Contribution of Large Genomic Deletions to Recessive Mendelian Disease Carrier Burden within a Healthy Population Foresight® ACMG 2021 Poster Presentations 20
      Ancestrally Unbiased Polygenic Breast Cancer Risk Assessment RiskScore® ASCO 2021 Poster Presentations 30
      The Clinical Utility of Combinatorial Pharmacogenomic Testing for Patients with Depression: A Meta-Analysis GeneSight® ADAA 2021 Poster Presentations 27
      Combinatorial pharmacogenomics in MDD has greatest potential utility for patients taking medications with significant gene-drug interactions GeneSight® APA 2021 Poster Presentations 28
      A noninvasive prenatal screen with >4% fetal fraction in all samples Prequel® ACOG 2021 Poster Presentations 24
      Combinatorial Pharmacogenomic Algorithm is Predictive of Sertraline Metabolism in Patients with Major Depressive Disorder GeneSight® APA 2021 Poster Presentations 29
      Evaluating the Efficacy of Three Carrier Screening Workflows Designed to Identify At-Risk Carrier Couples Foresight® ACOG 2021 Poster Presentations 25
      Combinatorial pharmacogenomics in MDD has greatest potential utility for patients taking medications with significant gene-drug interactions GeneSight® AAFP 2021 Poster Presentations 18
      Fetal Fraction Amplification in Noninvasive Prenatal Screening: Impact on Fetal Sex Chromosome Analysis Prequel® ACMG 2021 Poster Presentations 21
      High-throughput fetal-fraction amplification increases analytical performance of noninvasive prenatal screening Prequel® SMFM 2021 Poster Presentations 62
      Combinatorial Pharmacogenomic Algorithm is Predictive of Sertraline Metabolism in Patients with Major Depressive Disorder GeneSight® NNDC 2021 Poster Presentations 51
      Integration of an Ancestry-Inclusive Polygenic Risk Score with the Tyrer-Cuzick Breast Cancer Risk Model RiskScore® SABCS 2021 Poster Presentations 56
      Cell Cycle Progression Score and PTEN as Prognostic Factors for Metastasis in Intermediate- and High-Risk Prostate Cancer Overall and in Men who also Received Salvage Radiotherapy Prolaris® ASCO-GU 2021 Poster Presentations 32
      Concordance of the FDA-Approved Companion Diagnostic and a Next-Generation Sequencing Assay Kit for Assessing Homologous Recombination Deficiency in Ovarian Cancer ESGO 2021 Poster Presentations 39
      A Noninvasive Prenatal Screen with >4% Fetal Fraction in All Samples: Clinical Laboratory Experience Prequel® NPWH 2021 Poster Presentations 52
      Clinical utility of combinatorial pharmacogenetic testing in depression: Canadian patient- and rater-blinded, randomized, controlled trial and meta-analysis GeneSight® CPA 2021 Poster Presentations 37
      Combinatorial Pharmacogenomic Algorithm is Predictive of Sertraline Metabolism in Patients with Major Depressive Disorder GeneSight® NEI 2021 Poster Presentations 49
      Clinical utility of combinatorial pharmacogenetic testing in depression: Canadian patient- and rater-blinded, randomized, controlled trial and meta-analysis GeneSight® ASCP 2021 Poster Presentations 34
      Clinical Experience of an Alpha Thalassemia Carrier Screening Assay with an Increased Detection Rate Due to Novel Variant Calling Foresight® ASHG 2021 Poster Presentations 35
      Development and Validation of a Prognostic Molecular Cell Cycle Progression Signature for Decentralized Testing of Men with Localized Prostate Cancer Prolaris® ECP 2021 Poster Presentations 38
      Cell Cycle Progression score and PTEN as prognostic factors for metastasis in intermediateand high-risk prostate cancer overall, and in those who also received salvage radiotherapy Prolaris® AUA 2021 Poster Presentations 36
      Clinical Validation of EndoPredict in Pre-Menopausal Women with Estrogen Receptor-Positive (ER+), Human Epidermal Growth Factor Receptor 2-Negative (HER2-) Primary Breast Cancer EndoPredict® ASCO 2021 Poster Presentations 31
      Evaluating the Role of Pharmacogenetics in Attention-Deficit/Hyperactivity Disorder Using Human Hepatocytes and Enzyme Inhibition in Human Liver Microsomes GeneSight® PGRN 2021 Poster Presentations 55
      The clinical cell-cycle risk score is associated with metastasis after radiation therapy and may identify men with prostate cancer who can forgo combined androgen deprivation therapy Prolaris® ASCO-GU 2021 Poster Presentations 33
      A Noninvasive Prenatal Screen that Achieves ≥4% Fetal Fraction in >99.9% of Patients Prequel® NSGC 2021 Poster Presentations 53
      Combinatorial pharmacogenomics in MDD has greatest potential utility for patients taking medications with significant gene-drug interactions GeneSight® NNDC 2021 Poster Presentations 50
      Identifying Homologous Recombination Deficiency in Breast Cancer: Genomic Instability Score Thresholds Differ in Breast Cancer Subtypes SABCS 2021 Poster Presentations 57
      The clinical cell-cycle risk score is associated with metastasis after radiation therapy and may identify men with prostate cancer who can forgo combined androgen deprivation therapy Prolaris® IPCU 2021 Poster Presentations 47
      Missense ATM Variant c.6919C>T(p.Leu2307Phe) May Be Associated with Breast Cancer Risk But Not Ataxia Telangiectasia MyRisk® HBOC BRCA Symposium 2021 Poster Presentations 46
      A noninvasive prenatal screen with >4% fetal fraction in all samples: Clinical laboratory experience Prequel® ISPD 2021 Poster Presentations 48
      Can Expanded Carrier Screening Shorten the Diagnostic Odyssey in those with Genetic Disease? Foresight® NSGC 2021 Poster Presentations 54
      A “Tandem-Reflex” Strategy Minimizes Results Delivery Time for Couples Undergoing Carrier Screening Foresight® ACOG 2020 Poster Presentations 83
      Comparison of genomic instability test scores used for predicting PARP activity in ovarian cancer IGCS 2020 Poster Presentations 112
      The clinical utility of combinatorial pharmacogenomic testing for patients with depression: a meta-analysis GeneSight® PGX 2020 Poster Presentations 120
      Comprehensive breast cancer (BC) risk assessment for CHEK2 carriers incorporating a polygenic risk score (PRS) and the Tyrer-Cuzick (TC) model RiskScore® ASCO 2020 Poster Presentations 88
      Identification of Pathogenic Variants in Patients with Melanoma who Meet NCCN Criteria for Hereditary Breast and Ovarian Cancer and Lynch Syndrome Testing Other AAD 2020 Poster Presentations 72
      An evidence-based evaluation of guidelines criteria for condition inclusion on ECS panels: identifying a guidelines-compliant panel Prequel® NSGC 2020 Poster Presentations 118
      Prostate cancer metastatic profiles correlate with molecular alterations ESMO 2020 Poster Presentations 110
      The Association of Maternal HBB Pathogenic Variant Status and Fetal Fraction in Non-Invasive Prenatal Screening Prequel® ACMG 2020 Poster Presentations 77
      Cancer risks associated with monoallelic MUTYH and NTHL1 pathogenic variants MyRisk® CGA 2020 Poster Presentations 106
      Clinical Implications of Conflicting Variant Interpretations in the Cancer Genetics Clinic MyRisk® SCGC 2020 Poster Presentations 126
      The Clinical Utility of Combinatorial Pharmacogenomic Testing for Patients with Depression: A Meta-Analysis GeneSight® CPNP 2020 Poster Presentations 108
      The relationship between variant type and phenotype among diseases screened by the Foresight® Expanded Carrier Screen Foresight® AMP 2020 Poster Presentations 86
      Comparison of genomic instability test scores used for predicting PARP activity in ovarian cancer ASCO 2020 Poster Presentations 95
      Combinatorial Pharmacogenomic Testing Improves Response and Remission for Patients Over 65 with Depression Who Have Failed At Least One Medication Trial GeneSight® AAGP 2020 Poster Presentations 74
      The Clinical Utility of Combinatorial Pharmacogenomic Testing for Patients with Depression: A Meta-Analysis GeneSight® AAFP 2020 Poster Presentations 73
      High-throughput fetal-fraction amplification increases analytical performance of noninvasive prenatal screening Prequel® AMP 2020 Poster Presentations 85
      Development of a breast cancer risk assessment model for ATM mutation carriers incorporating Tyrer-Cuzick and a polygenic risk score RiskScore® SABCS 2020 Poster Presentations 123
      Detecting Novel Variants in Alpha Thalassemia Carriers J. Foresight® ACMG 2020 Poster Presentations 75
      Clinical utility of combinatorial pharmacogenetic testing in depression: Canadian patient- and rater-blinded, randomized, controlled trial and meta-analysis GeneSight® SOBP 2021 Poster Presentations 64
      The Role of Allele-Specific RNA Analysis in Hereditary Cancer Variant Classification MyRisk® NSGC 2020 Poster Presentations 119
      Ability of the Combined Clinical-Cell Cycle Risk Score to Identify Patients who Benefit from Multi versus Single Modality Therapy in NCCN Intermediate and High Risk Prostate Cancer Prolaris® ASCO-GU 2020 Poster Presentations 97
      Combinatorial Pharmacogenomic Testing Outperforms Individual Pharmacokinetic Gene Guidelines When Predicting Blood Levels of Psychotropic Medications and Clinical Outcomes in Patients with Depression GeneSight® ACNP 2020 Poster Presentations 81
      An evidence-based evaluation of guidelines criteria for condition inclusion on ECS panels: identifying a guidelines-compliant panel Foresight® ASRM 2020 Poster Presentations 104
      Detecting Novel Variants in Alpha Thalassemia Carriers Foresight® NSGC 2020 Poster Presentations 116
      Assessing the Consistency of Carrier Screening Guidelines Other ACNM 2020 Poster Presentations 79
      Multigene assessment of genetic risk for multiple primary breast cancers MyRisk® ASHG 2020 Poster Presentations 101
      Triple-negative breast cancer risk with pathogenic variants in hereditary cancer predisposition genes MyRisk® SABCS 2020 Poster Presentations 124
      A single-institution and commercial laboratory database analysis of BRIP1-associated cancer risks MyRisk® ASCO 2020 Poster Presentations 89
      Renal Biopsy Cell Cycle Proliferation (CCP) Score Predicts Adverse Surgical Pathology in Renal Cell Carcinoma Other ASCO-GU 2020 Poster Presentations 96
      Impact Analysis of PVS1 Criteria on Canonical Splice Variant Classifications Foresight® ASHG 2020 Poster Presentations 102
      Clinical Validity of Expanded Carrier Screening: Evaluating the Gene -Disease Relationship in more than 200 Conditions Foresight® ACMG 2020 Poster Presentations 76
      Comparison of risk assessment in primary ER+, HER2 HER2-Breast Cancer in a real real-world data set: classical pathological parameters vs. 12 12-gene molecular assay ( EndoPredictEndoPredict) EndoPredict® SABCS 2020 Poster Presentations 122
      The Clinical Utility of Combinatorial Pharmacogenomic Testing for Patients with Depression: A Meta-Analysis GeneSight® ADAA 2020 Poster Presentations 84
      Defining and Measuring Safety of Combinatorial Pharmacogenomic Testing for Patients with Major Depressive Disorder (MDD) GeneSight® NEI 2020 Poster Presentations 114
      Final overall survival results from SOLO2/ENGOT‐ov21: a Phase III trial assessing maintenance olaparib in patients with platinum‐sensitive, relapsed ovarian cancer and a BRCA mutation ASCO 2020 Poster Presentations 93
      Prognostic and Clinical Utility Capabilities of Cell Cycle Progression Testing, Prostate Imaging-Reporting and... Prolaris® IPCU 2020 Poster Presentations 113
      Identification and characterization of SVA retroelement insertions through NGS hereditary cancer panel testing and RNA analysis MyRisk® ASHG 2020 Poster Presentations 103
      Application of a Severity Framework to 176 Conditions on an Expanded Carrier Screening Panel Foresight® ACOG 2020 Poster Presentations 82
      Personalizing localized prostate cancer: Validation of a combined clinical cell-cycle risk (CCR) score threshold for prognosticating benefit from multimodality therapy Prolaris® AUA Western 2020 Poster Presentations 105
      Defining and Measuring Safety of Combinatorial Pharmacogenomic Testing for Patients with Major Depressive Disorder (MDD) GeneSight® NNDC 2020 Poster Presentations 115
      Ability of cell cycle progression score to predict risk for progression to metastatic disease and disease-specific mortality in prostate cancer patients after prostatectomy Prolaris® ASCO 2020 Poster Presentations 94
      Combinatorial Pharmacogenomic Testing Improves Outcomes for Patients Taking Medications with Gene-Drug Interactions in a Randomized, Controlled Trial GeneSight® CPNP 2020 Poster Presentations 107
      Classification of triple negative breast cancer (TNBC) by DNA damage immune response (DDIR) signature and homologous recombination deficiency (HRD) status: Analysis of SWOG S9313 adjuvant trial SABCS 2020 Poster Presentations 125
      CCP Score Compared with Ki-67 for the Prediction of Death in Localised Conservatively Treated Prostate Cancer Prolaris® USCAP 2021 Poster Presentations 65
      A novel Bayesian hierarchical model for analytically validating the detection of common and rare autosomal aneuploidies from noninvasive prenatal screening of 44,420 samples Prequel® ASHG 2020 Poster Presentations 100
      Consistency of carrier screening guidelines across seven populations and 408,000 individuals Foresight® ESHG 2020 Poster Presentations 109
      The Clinical Utility of Combinatorial Pharmacogenomic Testing for Patients with Depression: A Meta-Analysis GeneSight® APNA 2020 Poster Presentations 87
      Identification of Pathogenic Variants in Patients with Melanoma who Meet NCCN Criteria for Hereditary Breast and Ovarian Cancer and Lynch Syndrome Testing MyRisk® FRED Fall 2020 Poster Presentations 111
      Clinical Experience for Noninvasive Prenatal Screen in Twins Prequel® NSGC 2020 Poster Presentations 117
      Clinical utility of combinatorial pharmacogenetic testing in depression: Canadian patient- and rater-blinded, randomized, controlled trial GeneSight® ACNP 2020 Poster Presentations 80
      The Clinical Utility of Combinatorial Pharmacogenomic Testing for Patients with Depression: A Meta-Analysis GeneSight® ASCP 2020 Poster Presentations 98
      The Clinical Utility of Combinatorial Pharmacogenomic Testing for Patients with Depression: A Meta-Analysis GeneSight® Psych Congress 2020 Poster Presentations 121
      Pharmacogenetics of Clozapine-induced Agranulocytosis: A Systematic Review and Meta-Analysis GeneSight® SOBP 2021 Poster Presentations 63
      Detecting Novel Variants in Alpha Thalassemia Carriers Foresight® ASHG 2020 Poster Presentations 99
      Expanded Aneuploidy Analysis Reveals Trisomy 2: Evidence of Rare Aneuploidy via NIPS Provides Opportunity for Focused Care Prequel® ACMG 2020 Poster Presentations 78
      A second-generation polygenic risk score (PRS) based on genetic ancestry improves breast cancer (BC) risk prediction for all ancestries RiskScore® ACMG 2024 Poster Presentations 174
      In vitro Characterization of Bupropion Metabolism using Two Methodologies GeneSight® PGRN 2023 Poster Presentations 148
      Prospective Longitudinal Validation of Breast Cancer Risk Assessment Combining a Polygenic Risk Score for All Ancestries with the Tyrer-Cuzick Model RiskScore® City of Hope 2023 Poster Presentations 143
      Use of Virtual Patient Education to Improve Patient Understanding of Hereditary Cancer Risk Assessment and Genetic Literacy MyRisk® ACOG 2024 Poster Presentations 182
      Impact of Weighted Multi-Gene Pharmacogenomic Testing on Hospitalization Rates in a Real-World Dataset of Patients with Major Depressive Disorder GeneSight® NNDC 2024 Poster Presentations 198
      Fetal Fraction Amplification Yields Sufficient Fetal Fraction to Enable cfDNA Screening with a Low Screen-Failure Rate Between 8-10 Weeks Gestation Prequel® NSGC 2025 Poster Presentations 249
      A Comparison of Carrier Rates Derived From Different Data Sources Foresight® NSGC 2024 Poster Presentations 200
      Medication Adherence Following Weighted Multi-Gene Pharmacogenomic Testing in Real-World Insurance Claims Data from Patients with Major Depressive Disorder GeneSight® ACNP 2024 Poster Presentations 217
      Analytical validation of a high-definition tumor-informed MRD assay demonstrates robust detection at low tumor fractions common in breast cancer MRD SABCS 2024 Poster Presentations 229
      An Updated Meta-Analysis of the Clinical Utility of Combinatorial Pharmacogenomic Testing for Adult Patients with Depression GeneSight® Psych Congress 2023 Poster Presentations 171
      Defining Our Value and Our Values: An examination of genetic counselors' self-perceptions of professional and personal contributions for the development of a team mission statement and charter Other NSGC 2023 Poster Presentations 167
      Combinatorial Pharmacogenomic Algorithm is Predictive of Citalopram and Escitalopram Metabolism in Patients with Major Depressive Disorder GeneSight® UF PMC 2020 Poster Presentations 132
      Validation of Fetal and Maternal Recessive Disease Genotyping with FirstGene: a Combined, Non-Invasive Prenatal cfDNA Assay for Fetal Aneuploidy, Recessive Diseases, and Serological Screening FirstGene™ ASHG 2024 Poster Presentations 210
      Pregnancy and fetal outcomes in pregnancies that screened positive for rare autosomal trisomies (RATs) Prequel® ACOG 2024 Poster Presentations 183
      Polygenic Score Predicts Early Onset Triple-Negative Breast Cancer in Black Women RiskScore® IBDW 2023 Poster Presentations 145
      Genetic Counseling Student Interest in GC Roles in an Industry Rotation Setting Other NSGC 2025 Poster Presentations 259
      Early Performance Analysis for 22q11.2 Deletion Syndrome Detection Using a Whole-Genome Sequencing-Based Noninvasive Prenatal Screen Prequel® PPC 2023 Poster Presentations 151
      Association of Polygenic-based Breast Cancer Risk Prediction with Patient Management RiskScore® ASHG 2024 Poster Presentations 212
      Professional Development for Seasoned Genetic Counselors: Moving from Clinical Expertise to Leadership Excellence Other NSGC 2025 Poster Presentations 253
      Fetal Fraction Amplification in Prenatal cell-free DNA screening supports equitable care for ethnically- and BMI-diverse patients. Prequel® ISPD 2023 Poster Presentations 146
      Familiarity With Psychiatric Pharmacogenomic Testing in Physicians and Advanced Practice Providers: Educational Opportunities GeneSight® NEI 2023 Poster Presentations 161
      Medication Adherence Following Pharmacogenomic Testing in Insurance Claims Data from Patients with Major Depressive Disorder GeneSight® AAPP 2025 Poster Presentations 242
      Barriers To Care: When Insurance Does Not Cover Hereditary Cancer Genetic Testing In Unaffected Individuals MyRisk® NSGC 2023 Poster Presentations 169
      Optimized selection of tumor-informed MRD panels enhances sensitivity of ctDNA detection MRD AACR 2025 Poster Presentations 241
      Antidepressant Treatment Patterns among Patients with Postpartum Depression in a US Claims Database GeneSight® SPER 2023 Poster Presentations 150
      Use of Virtual Patient Education to Improve Provider Compliance with Hereditary Cancer Assessment Guidelines and Genetic Testing in a Community OB/GYN Setting MyRisk® ACOG 2024 Poster Presentations 181
      An Updated Meta-Analysis of the Clinical Utility of Combinatorial Pharmacogenomic Testing for Adult Patients with Depression GeneSight® NNDC 2023 Poster Presentations 163
      Impact of Weighted Multi-Gene Pharmacogenomic Testing on Hospitalization Rates in a Real-World Dataset of Patients with Major Depressive Disorder GeneSight® Pysch Congress 2024 Poster Presentations 215
      Healthcare Resource Utilization and Medication Patterns in a Real-World Dataset of Patients with Major Depressive Disorder GeneSight® NEI Congress 2024 Poster Presentations 224
      Validating gestational age ICD-10 codes in claims data with physician-reported gestational age on non-invasive prenatal screening Prequel® ISPOR 2024 Poster Presentations 194
      Postpartum depression pharmacotherapy treatment patterns in two US claims databases GeneSight® ACOG 2024 Poster Presentations 184
      Impact of Pharmacogenomic Testing on Hospitalization Rates in a Real-World Dataset of Patients with Major Depressive Disorder GeneSight® CPIC 2024 Poster Presentations 192
      Impact of Panel Size on Molecular Residual Disease (MRD) Assay Performance MRD ASHG 2023 Poster Presentations 154
      Association of polygenic-based breast cancer risk prediction with patient management RiskScore® BRCA Symposium (Montreal) 2025 Poster Presentations 243
      Investigating Cancer Diagnoses after Atypical Findings on Prenatal Cell-Free DNA (pcfDNA) Screening Prequel® ACOG 2025 Poster Presentations 248
      Impacts of Cell-Free DNA Input Mass on Molecular Residual Disease (MRD) Assay Performance MRD AMP 2024 Poster Presentations 218
      Clinical Characterization of Patients with Germline CTNNA1 and CDH1 Mutations MyRisk® CGA 2023 Poster Presentations 156
      A second-generation polygenic risk score (PRS) based on genetic ancestry improves breast cancer (BC) risk prediction for all ancestries RiskScore® SABCS 2023 Poster Presentations 170
      Evaluation of a polygenic risk score as a predictor of early onset triple-negative breast cancer in Black women RiskScore® BRCA Symposium (Montreal) 2025 Poster Presentations 239
      Provider & Patient Uptake of Prenatal cfDNA Screening at an Earlier Gestational Age Prequel® NSGC 2025 Poster Presentations 250
      RNA Analysis from Residual Blood Aids the Interpretation of VUS Identified in Individuals Undergoing Hereditary Cancer Genetic testing MyRisk® NSGC 2025 Poster Presentations 257
      An Updated Meta-Analysis of the Clinical Utility of Combinatorial Pharmacogenomic Testing for Adult Patients with Depression GeneSight® ACNP 2023 Poster Presentations 153
      Association of Polygenic-based Breast Cancer Risk Prediction with Patient Management RiskScore® ASCO 2024 Poster Presentations 186
      The Association of Maternal HBB Pathogenic Variant Status and Fetal Fraction in Non-invasive Prenatal Screening Prequel® SMFM 2020 Poster Presentations 130
      Improving a Polygenic Risk Score (PRS) for Breast Cancer (BC) Risk Assessment in Diverse Ancestries RiskScore® ASCO 2024 Poster Presentations 185
      Pharmacist-led implementation of pharmacogenomic services for behavioral health in outpatient, collaborative settings GeneSight® ACCP 2024 Poster Presentations 214
      Validation of Fetal and Maternal Recessive Disease Genotyping with FirstGene: a Combined, Non-Invasive Prenatal cfDNA Assay for Fetal Aneuploidy, Recessive Diseases, and Serological Screening FirstGene™ NSGC 2024 Poster Presentations 206
      Safety and Clinical Validity of Tumor Genomic Testing for Guiding Active Surveillance Selection in Men with NCCN Intermediate-Risk Prostate Cancer Prolaris® AUA Western 2024 Poster Presentations 196
      Outcomes in Pregnancies that Screened Positive for Rare Autosomal Aneuploidies (RAAs) Prequel® NSGC 2024 Poster Presentations 204
      Longitudinal Validation in UK Biobank of a Breast Cancer Risk Assessment Tool That Combines a Polygenic Score for All Ancestries with Traditional Risk Factors RiskScore® BRCA Symposium (Montreal) 2025 Poster Presentations 238
      Shaping The Future: Evolving a Field-Based Laboratory Rotation to Meet the Needs of Genetic Counseling Students Other NSGC 2025 Poster Presentations 258
      High-Throughput, Automated Detection of FXN Repeat Expansions Using Repeat Primed PCR Followed by Capillary Electrophoresis Foresight® NSGC 2025 Poster Presentations 252
      Improving a polygenic risk score (PRS) for breast cancer (BC) risk assessment in diverse ancestries RiskScore® BRCA Symposium (Montreal) 2025 Poster Presentations 237
      An Innovative Approach to Providing Hereditary Cancer Risk Assessment in Collaborative APP/MD Community Women’s Health Practice MyRisk® COH 2025 Poster Presentations 244
      Cancer Risk Assessment and Genetic Testing Implementation and Uptake at a Breast Imaging Site MyRisk® NCBC 2023 Poster Presentations 147
      Healthcare Resource Utilization and Medication Patterns in a Real-World Dataset of Patients with Major Depressive Disorder GeneSight® ASCP 2024 Poster Presentations 191
      Investigating Cancer Diagnoses after Atypical Findings on Prenatal Cell-Free DNA (pcfDNA) Screening Prequel® NSGC 2024 Poster Presentations 202
      Clinical characteristics of APC I1307K homozygotes identified via multigene hereditary cancer panel testing MyRisk® NSGC 2023 Poster Presentations 166
      Cell-free DNA screening performance at 6-9 weeks gestation using fetal fraction amplification Prequel® ACOG 2025 Poster Presentations 246
      Evaluation of a polygenic risk score as a predictor of early onset triple-negative breast cancer in Black women RiskScore® ASCO 2024 Poster Presentations 189
      Prospective Longitudinal Validation of a Breast Cancer Risk Prediction Model in a Cohort of 130,058 Individuals RiskScore® ACMG 2023 Poster Presentations 138
      Cancer Risks Associated with Germline Pathogenic Variants in the MLH1, MSH2, MSH6, PMS2, and EPCAM Genes MyRisk® CGA 2023 Poster Presentations 157
      Pregnancy and fetal outcomes in pregnancies that screened positive for rare autosomal trisomies (RATs) Prequel® ISPD 2024 Poster Presentations 193
      Familiarity With Psychiatric Pharmacogenomic Testing in Physicians and Advanced Practice Providers: Educational Opportunities GeneSight® NNDC 2023 Poster Presentations 164
      The Clinical Utility of Combinatorial Pharmacogenomic Testing for Patients with Depression: A Meta-Analysis GeneSight® WCPG 2020 Poster Presentations 134
      Healthcare Resource Utilization and Medication Patterns in a Real-World Insurance Claims Dataset of Patients with Major Depressive Disorder GeneSight® ACNP 2024 Poster Presentations 216
      Association of polygenic-based breast cancer risk prediction with patient management MyRisk® SABCS 2024 Poster Presentations 228
      Healthcare Resource Utilization and Medication Patterns in a Real-World Dataset of Patients with Major Depressive Disorder GeneSight® PGRN 2024 Poster Presentations 209
      The Importance of Germline Follow-up of Tumor Molecular Profiling Results in a Clinical Gynecologic Oncology Practice NSGC 2023 Poster Presentations 168
      Prolaris Kit Cell-Cycle Risk Scores are Reproducible across External Molecular and Pathology Laboratories Prolaris® ESP-ECP 2023 Poster Presentations 158
      Impact of Combinatorial Pharmacogenomic Testing on Hospitalization Rates in a Real-World Dataset of Patients with Major Depressive Disorder GeneSight® AAPP 2024 Poster Presentations 190
      P675 Interrogating the Source: An Investigation of the Impact of Founder Variants on Residual Risk in Carrier Screening Foresight® ACMG 2024 Poster Presentations 175
      An Innovative Approach to Providing Hereditary Cancer Risk Assessment in Collaborative APP/MD Community Women’s Health Practice MyRisk® NPWH 2024 Poster Presentations 199
      Utilization of Psychiatric Pharmacogenomic Testing by Primary Care Physicians and Advanced Practice Providers: Confidence and Implementation Barriers GeneSight® NNDC 2023 Poster Presentations 165
      Design of high-performance tumor-informed molecular residual disease (MRD) panels from low FFPE tumor input MRD AACR 2024 Poster Presentations 179
      In vitro Characterization of Bupropion Metabolism using Two Methodologies GeneSight® ACNP 2023 Poster Presentations 152
      Prevalence of germline likely pathogenic or pathogenic variants in patients with endometrial cancer diagnosed at >50 years within a laboratory-based research registry MCRR SGO 2025 Poster Presentations 230
      Age at Diagnosis of Breast Cancer for Women with Pathogenic Variants in BARD1, RAD51C, and RAD51D MyRisk® NSGC 2024 Poster Presentations 220
      Comprehensive prenatal cfDNA screening via simultaneous assessment of aneuploidy, single-gene conditions, and fetomaternal blood compatibility FirstGene™ ACOG 2025 Poster Presentations 247
      Validation of Fetal and Maternal Spinal Muscular Atrophy (SMA) and Hemoglobin (Hb) Bart’s Screening with FirstGene, a Combined Non-Invasive Prenatal cfDNA Assay for Fetal Aneuploidy, Recessive Diseases, and Serological Screening FirstGene™ ASHG 2024 Poster Presentations 211
      Evaluating Breast Cancer Genetic Testing Guidelines for Pathogenic Variants in a Large Registry MCRR ASBrS 2025 Poster Presentations 245
      Predicting Absolute Benefit in Risk of Metastasis of Androgen Deprivation Therapy added to Radiation Therapy in Patients with Newly Diagnosed Prostate Cancer Prolaris® ASCO 2023 Poster Presentations 141
      Screening for 22q11.2 Deletion Syndrome With a pcfDNA Assay that Incorporates Fetal Fraction Amplification: Prenatal Ultrasound Findings and Pregnancy Outcomes Prequel® ACOG 2024 Poster Presentations 180
      The Utility of Tumor Genomic Testing for Prognosticating Biochemical Recurrence in Men with NCCN Intermediate-Risk Prostate Cancer Prolaris® AUA Western 2024 Poster Presentations 195
      Active Surveillance Selection and Durability in Men with NCCN Intermediate Risk, Localized Prostate Cancer Who Had Genetic Testing Prolaris® AUA Western 2023 Poster Presentations 155
      Utilization of Psychiatric Pharmacogenomic Testing by Primary Care Physicians and Advanced Practice Providers: Confidence and Implementation Barriers GeneSight® NEI 2023 Poster Presentations 162
      Leveraging a Longitudinal Genomics Platform to Recontact Patients Eligible for Hereditary Cancer Genetic Testing MyRisk® NSGC 2025 Poster Presentations 255
      High positive predictive value of 22q11.2 microdeletion screening by prenatal cell-free DNA testing that incorporates fetal fraction amplification Prequel® SMFM 2024 Poster Presentations 178
      Association of Single-Nucleotide Polymorphisms of C-Reactive Protein Gene with C-Reactive Protein Blood Levels and Outcomes in Treatment-Resistant Bipolar Depression Treated with Escitalopram and Celecoxib GeneSight® SOBP 2020 Poster Presentations 131
      Prevalence of germline Lynch syndrome variants in patients with colorectal cancer diagnosed at >50 years within a laboratory-based research registry MCRR CGA 2024 Poster Presentations 222
      Prenatal Cell-Free DNA Screening Helps Uncover Maternal Colorectal Cancer: A Case Study Prequel® NSGC 2025 Poster Presentations 256
      Detecting Maternal Mosaicism in Fetal Sex Chromosome Aneuploidy Screening FirstGene™ SMFM 2025 Poster Presentations 227
      Homologous Recombination Deficiency status of individuals with ovarian, peritoneal or fallopian tube cancer in a laboratory-based research registry MCRR SGO 2025 Poster Presentations 231
      Validation of Fetal RHD Copy Number Calling in FirstGene, a Combined Non-Invasive Prenatal cfDNA Assay for Fetal Aneuploidy, Recessive Diseases, and Serological Screening FirstGene™ NSGC 2024 Poster Presentations 208
      Safety and clinical validity of tumor genomic testing for guiding active surveillance selection in men with NCCN intermediaterisk prostate cancer Prolaris® ASCO GU 2024 Poster Presentations 176
      Analytical validation of a high-definition tumor-informed MRD assay demonstrates robust detection at low tumor fractions common in breast cancer MRD SABCS 2024 Poster Presentations 225
      From Concept to Care: The Evolution of a Genetic Screening Report through Clinical and Design Collaboration FirstGene™ NSGC 2025 Poster Presentations 251
      Clinical Characterization of Patients with Germline AXIN2 Mutations in a Large Commercial Laboratory Based Cohort MyRisk® CGA 2024 Poster Presentations 221
      Cancer Risks Associated with Germline Pathogenic Variants in the MLH1, MSH2, MSH6, PMS2, and EPCAM Genes MyRisk® City of Hope 2024 Poster Presentations 197
      Cancer Risk Assessment and Hereditary Cancer Genetic Testing in a Community OB/GYN Setting MyRisk® NCBC 2024 Poster Presentations 177
      Supporting Equitable & Weight Neutral Care in Fetal Aneuploidy Screening Prequel® ACNM 2023 Poster Presentations 139
      Validation of Fetal Aneuploidy Detection with FirstGene: a Combined, Non-Invasive Prenatal cfDNA Assay for Fetal Aneuploidy, Recessive Diseases, and Serological Screening FirstGene™ NSGC 2024 Poster Presentations 205
      Age at Diagnosis of Breast Cancer for Women with Pathogenic Variants in BARD1, RAD51C, and RAD51D MyRisk® BRCA Symposium (Montreal) 2025 Poster Presentations 234
      Early Performance Analysis for 22q11.2 Deletion Syndrome Detection Using a Whole-Genome Sequencing-Based Noninvasive Prenatal Screen Prequel® ACMG 2023 Poster Presentations 137
      Development and User Insights of a Novel Real-World Treatment Registry that Combines Germline Hereditary Cancer, Tumor Mutational Landscape, and Homologous Recombination Deficiency Data with Patient Clinical Characteristics SGO 2023 Poster Presentations 149
      Primary, Secondary, and Meta- Analyses in Pharmacogenomics Clinical Trials: Where is Truth? GeneSight® WCPG 2020 Poster Presentations 135
      The Spectrum of Germline Hereditary Cancer Mutations Within a Laboratory-Based Research Registry MCRR NSGC 2025 Poster Presentations 254
      An Updated Meta-Analysis of the Clinical Utility of Combinatorial Pharmacogenomic Testing for Adult Patients with Depression GeneSight® NEI 2023 Poster Presentations 160
      Prevalence and Penetrance of Germline Pathogenic Variants (PVs) in Male Breast Cancer (Male BC) MyRisk® BRCA Symposium (Montreal) 2025 Poster Presentations 235
      Cancer Risk Assessment and Genetic Testing Implementation and Uptake at a Breast Imaging Site MyRisk® NCBC 2023 Poster Presentations 159
      MSH6 c.3226C>T (p.Arg1076Cys): The First Pathogenic Germline Low-Penetrance Lynch Syndrome Variant? MyRisk® CGA 2024 Poster Presentations 223
      Validating the Addition of 39 ACMG-Recommended Genes to a 234-Gene Carrier Screening Panel Foresight® ASHG 2024 Poster Presentations 213
      Inclusion of INDEL somatic variants in MRD panels improves confidence in ctDNA residual disease detection MRD AACR 2025 Poster Presentations 240
      Familiarity With Psychiatric Pharmacogenomic Testing in Physicians and Advanced Practice Providers: Educational Opportunities GeneSight® Psych Congress 2023 Poster Presentations 172
      Longitudinal Validation in UK Biobank of a Breast Cancer Risk Assessment Tool That Combines a Polygenic Score for All Ancestries with Traditional Risk Factors RiskScore® SABCS 2024 Poster Presentations 226
      Complications and Outcomes of Pregnancies Screening Positive for Microdeletions 22q11.2, 15q11.2, 1p36, 4p, or 5p Prequel® NSGC 2024 Poster Presentations 203
      Utilization of Psychiatric Pharmacogenomic Testing by Primary Care Physicians and Advanced Practice Providers: Confidence and Implementation Barriers GeneSight® Psych Congress 2023 Poster Presentations 173
      Validation of Fetal and Maternal Spinal Muscular Atrophy (SMA) and Hemoglobin (Hb) Bart’s Screening with FirstGene, a Combined Non-Invasive Prenatal cfDNA Assay for Fetal Aneuploidy, Recessive Diseases, and Serological Screening FirstGene™ NSGC 2024 Poster Presentations 201

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