Genetic counseling and testing can be performed by an obstetrician-gynecologist or other gynecologic care provider who has expertise in cancer genetics.

“[E]valuating a patient’s risk of hereditary breast and ovarian cancer syndrome should be a routine part of obstetric and gynecologic practice. […] Multigene panel testing may be useful when more than one gene may be associated with an inherited cancer syndrome.”

Practice Bulletin from American College of Obstetrician and Gynecologists Committee and the Society of Gynecologic Oncology, August 2017.

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NSGC endorses multi-gene panel tests.

“The National Society of Genetic Counselors (NSGC) endorses the use of multi-gene panel tests when clinically warranted and appropriately applied. These tests can provide a comprehensive and efficient route to identifying the genetic causes of disease. Before ordering a multi-gene panel test, providers should thoroughly evaluate the analytic and clinical validity of the test, as well as its clinical utility. Additional factors to consider include, but are not limited to: clinical and family history information, gene content of the panel, limitations of the sequencing and informatics technologies, and variant interpretation and reporting practices.”

National Society of Genetic Counselors (NSGC), March 2017.

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Individuals with HBOC risk receive genetic testing for PALB2 variant.

“The evidence is sufficient to determine that the technology results in a meaningful improvement in the net health outcome.”

BlueCross BlueShield Association. Moderate Penetrance Variants Associated With Breast Cancer in Individuals at High Breast Cancer Risk. Evidence Street, Current Review Date: January 2017.

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Panels test genes in parallel without substantially increasing cost – and all known contributing genes are assayed at first evaluation.

“Advantages of cancer gene panels include decreased cost and improved efficiency of cancer genetic testing by decreasing the time involved, number of patient visits, and number of tests sent. A negative genetic test is more reassuring at eliminating the likelihood of inherited risk when all known genes for that phenotype have been assayed.”

NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) – Genetic/Familial High-Risk Assessment: Breast and Ovarian, version 1.2017.

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Panel testing evaluates genes more efficiently and cost-effectively than sequential gene sequencing.

“Numerous recent studies have shown that panel testing can significantly increase the rate of detection of pathogenic mutations […]. […] Breast surgeons can consider panel testing for patients who qualify for hereditary breast cancer testing to more efficiently and cost-effectively evaluate genes that confer risk and affect management recommendations. […] Insurance companies are urged to incorporate these advantages of panel testing into the algorithm of allowed hereditary cancer genetic testing for patients at high risk.”

The American Society of Breast Surgeons. Consensus Guideline on Hereditary Genetic Testing for Patients With and Without Breast Cancer. September 13, 2016.

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Several studies demonstrate the prevalence of mutations identified by panel-based testing.

“The use of germline multiplex or multigene panel testing is rapidly expanding in cancer risk assessment. Potential advantages to such testing include time and cost efficiency, decrease in testing fatigue for patients and providers, efficient use of a single specimen, and comprehensive assessment for cancer susceptibility, particularly in common cancers or individuals without identifiable syndromes. This type of testing may be particularly useful in situations where there are multiple high-penetrance genes associated with a specific cancer, the prevalence of actionable mutations in one of several genes is high, and it is difficult to predict which gene may be mutated on the basis of phenotype or family history.”

Robson ME, et al. American Society of Clinical Oncology policy statement update: Genetic and genomic testing for cancer susceptibility. J Clin Oncol 2015 Nov; 33(31):3660-67.

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Genetic predisposition for particular cancers is changing from individual genes and syndromes to multiplex testing for a number of genes.

“Evaluation of the likelihood of a patient having [one of the] gynecologic cancer predisposition syndromes enables physicians to provide individualized assessments of cancer risk, as well as the opportunity to provide tailored screening and prevention strategies such as surveillance, chemoprevention, and prophylactic surgery that may reduce the morbidity and mortality associated with these syndromes.”

Lancaster JM, et al. Society of Gynecologic Oncology statement on risk assessment for inherited gynecologic cancer predispositions. Gynecologic Oncology 2015; 136:3–7.

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