Proven test performance1
Our next-generation sequencing platform is scientifically validated with a >99.99% sensitivity, specificity and accuracy.
Results your members can act on
We designed our genetic screens with clinical actionability in mind so that patients can make critical and timely health decisions.
Tools to drive patient satisfaction
We support your members throughout the genetic screening process from pretest education and upfront cost estimates to on-demand genetic counseling.
Expanded carrier screen with leading at-risk couple detection rate
Did you know?
- 86% of affected births detected by expanded carrier screening are missed when screening for cystic fibrosis and spinal muscular atrophy alone.1
- 76% of couples found by ECS to be at-risk for severe or profound conditions pursued alternative reproductive actions such as prenatal diagnosis or IVF with preimplantation genetic diagnosis.2
- 80% of children born with genetic disease have no family history of the condition so offering screening based on reported family history can lead to missing affected pregnancies.3
The Foresight Carrier Screen is methodically designed to maximize detection of at-risk couples for serious, prevalent, and clinically actionable diseases.
Flexible panel choices with Foresight Carrier Screen, including:
cystic fibrosis and spinal muscular atrophy
Universal carrier screening for cystic fibrosis and spinal muscular atrophy is recommended by ACMG and ACOG.4,5
30% more pregnancies affected with cystic fibrosis* or spinal muscular atrophy can be identified using Counsyl’s testing methodology.1
*when compared to a traditional 23 mutation panel
Non-invasive prenatal screen (NIPS) with lowest test failure rate of 0.1%6,7
Did you know?
- The false positive rate of non-invasive prenatal screening (NIPS) is 100x lower than serum screening in patients <35 years old.8
- Positive predictive value (PPV) is 20-fold higher than in standard serum screening.8
- Professional societies such as ACOG and ACMG endorse and/or recognize NIPS as a screening option for all pregnant women.9,10
The Prelude Prenatal Screen provides reliable results, the first time for your member’s pregnancies
Hereditary cancer panel of clinically actionable genes with clear management guidelines
Did you know?
- Over 50% of hereditary cancers are caused by genes other than BRCA1/2.11
- Guideline-based management can reduce breast cancer risk up to 95% and colon cancer risk up to 62% for patients with an identified mutation.12,13
- Counsyl is a top 10 contributor to ClinVar with over 20,000 variants curated and classified to date by our multidisciplinary team of 25+ scientists.
The Reliant Cancer Screen helps identify more patients who are at high risk for hereditary cancer.
Over 1 million screens performed
75,000+ genetic counseling sessions performed
250+ million lives in-network
- Hogan et al. Validation of an Expanded Carrier Screen that Optimizes Sensitivity via Full-Exon Sequencing and Panel-wide Copy Number Variant Identification. Clin Chem 2018; doi:10.1373/clinchem.2018.286823
- Ghiossi, C.E., Goldberg, J.D., Haque, I.S. et al. J Genet Counsel (2017). https://doi.org/10.1007/s10897-017-0160-1.
- Blythe SA, et al. Clin Biochem. 1984;17(5):277-283.
- Prior, Thomas W. 2008. “Carrier Screening for Spinal Muscular Atrophy.” Genetics in Medicine: Official Journal of the American College of Medical Genetics 10 (November). The American College of Medical Genetics: 840.
- Committee Opinion No. 690 Summary: Carrier Screening in the Age of Genomic Medicine.” 2017. Obstetrics and Gynecology 129 (3): 595–96.
- Taneja et al. Noninvasive prenatal testing in the general obstetric population: clinical performance and counseling considerations in over 85000 cases†. Prenatal Diagnosis 2016, 36, 1–7.
- Data on file.
- Norton, M. et al Cell free DNA analysis for noninvasive examination of trisomy. The New England Journal of Medicine April 2015; 372: 1589-1597.
- Practice Bulletin No. 163: screening for fetal aneuploidy. Obstet Gynecol. 2016;127(5):e123–37.
- 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.
- BRCA1/BRCA2 Frequency: Gabai-Kapara E, Lahad A, Kaufman B, et al. Population-based screening for breast and ovarian cancer risk due to BRCA1 and BRCA2. Proc Natl Acad Sci U S A. 2014.
- Domcheck, SM et al. Association of Risk-Reducing Surgery in BRCA1 or BRCA2 Mutation Carriers With Cancer Risk and Mortality JAMA.2010;304(9):967-975.
- Järvinen, H. J., J. P. Mecklin, and P. Sistonen. 1995. “Screening Reduces Colorectal Cancer Rate in Families with Hereditary Nonpolyposis Colorectal Cancer.” Gastroenterology 108 (5): 1405–11.