Why genetic screening and testing

Deeper understanding for a higher level of care

Genetic screening and testing results empower women and their families to make critical and timely healthcare decisions.

Why genetic screening and testing

Deeper understanding for a higher level of care

Genetic screening and testing results empower women and their families to make critical and timely healthcare decisions.

Shot of an adorable little girl spending the day with her mother and grandmother at the beach

Why cancer risk assessment and testing

There is extensive support among leading medical organizations for the utilization of cancer risk assessment and testing due to the high prevalence of at-risk patients and proven success of medical interventions to improve patient outcomes.

Many patients are still not being identified


Inherited mutations are thought to play a role in about 5 to 10% of all cancers.1


Only 15.3% of women with a personal history of breast or ovarian cancer who meet HBOC testing criteria have undergone genetic testing.2


Nearly three-quarters of a million people in the United States have Lynch syndrome, yet only 5% know they have it.3

A couple close together

Why expanded carrier screening (ECS)

Offering carrier screening based on family history or ethnicity could lead to missing affected pregnancies for serious conditions.

The total risk of serious disorders identified through ECS* is higher than the incidence of routinely screened for conditions.

*For persons receiving Foresight Universal (176 condition) screening. Modeled US population, excluding those with family history.

Make expanded carrier screening routine (ECS)

In 2017, ACOG recognized expanded carrier screening as an acceptable screening strategy8. Offering ECS routinely, regardless of family history or self-reported ethnicity, can improve outcomes for all patients.


86% of affected pregnancies detected by ECS are missed when screening for cystic fibrosis and spinal muscular atrophy alone.4


77% of couples found by ECS to be at risk pursued alternative reproductive actions such as prenatal diagnosis or IVF with preimplantation genetic diagnosis.5

4.8 years

On average it takes 4.8 years to diagnose a rare genetic disease.6


40% of Americans can’t correctly identify the ancestry of all four grandparents.7

Cropped shot of a man forming a heart on his pregnant girlfriend's belly

Why noninvasive prenatal screening

Every woman who wants to know more about her pregnancy should be offered noninvasive prenatal screening (NIPS).

Professional societies such as ACOG and ACMG endorse and/or recognize NIPS as a screening option for all pregnant women.1,2

Higher standard of care


NIPS has a >99% detection rate for down syndrome, the highest sensitivity of any prenatal screening method available.10


The false positive rate for Down syndrome with NIPS is just 0.1%, a 100x lower rate than the >5% false positive rate of traditional aneuploidy screening, such as integrated screen.10


Cost-effectiveness research has shown that NIPS leads to 88% fewer invasive prenatal diagnosis procedures, leading to 94% fewer procedure-related pregnancy losses.11


  1. Genetic Testing for Inherited Cancer Susceptibility Syndromes. National Cancer Institute.https://www.cancer.gov/about-cancer/causes-prevention/genetics/genetic-testing-fact-sheet
  2. Childers P, et al. National Estimates of Genetic Testing in WomenWitha History of Breast or Ovarian Cancer. J Clin Oncol 2017; 35:34, 3800-3806  
  3. Lowry,Moonshot Blue Ribbon Panel2016
  4.  Hogan et al. Validation of an Expanded Carrier Screen that Optimizes Sensitivity via Full-Exon Sequencing and Panel-wide Copy Number Variant Identification. Clinical Chemistry 2018; doi:10.1373/clinchem.2018.286823
  5.  Johansen Taber KA et al., Genet Med 2018; https://doi.org/10.1038/s41436-018-0321-0
  6. Global Genes, www.globalgenes.org
  7.  Condit, et al. 2003. “Attitudinal Barriers to Delivery of Race-Targeted Pharmacogenomics among Informed Lay Persons.” Genetics in Medicine: (5): 385–92
  8. Practice Bulletin No. 163: screening for fetal aneuploidy. Obstet Gynecol. 2016;127(5):e123–37.
  9. Noninvasive Prenatal Screening for Fetal Aneuploidy, 2016 Update: A Position Statement of the American College of Medical Genetics and Genomics. Obstetrical and Gynecological Survey. 2017 Jan 1;72(1):6-8. 
  10. Norton, M. et al Cell free DNA analysis for noninvasive examination of trisomy. The New England Journal of Medicine April 2015; 372: 1589-1597.
  11. Fairbrother G, Burigo J, Sharon T, Song K. Prenatal screening for fetal aneuploidies with cell-free DNA in the general pregnancy population: a cost-effectiveness analysis.J Matern Fetal Neonatal Med. 2016;29(7):1160‐1164. doi:10.3109/14767058.2015.1038703