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