Clinical Validity

Are we accurately identifying couples at-risk of passing on serious genetic conditions?

ECS panels have proven to identify patient carrier status as accurately as traditional single gene tests. Disease selection for panel inclusion has been addressed by both Counsyl publications and professional society statements. Professional societies, such as the Association of Molecular Pathologists (AMP) and the American College of Medical Genetics (ACMG) have also issued standards and guidelines for variant interpretation. As the leader in the field, Counsyl is committed to achieving high clinical specificity and sensitivity through thoughtful panel design, custom assays and rigorous variant curation.

Systematic design and comparison of expanded carrier screening panels.

Genetics in Medicine 2017; doi:10.1038/gim.2017.69 Beauchamp KA, Muzzey D, Wong KK, et al.

Systematic classification of disease severity for evaluation of expanded carrier screening panels.

PLoS One. 2014;9(12):e114391. PMID 25494330 Lazarin GA, Hawthorne F, Collins NS, et al.

Tay-Sachs Carrier Screening by Enzyme and Molecular Analyses in the New York City Minority Population.

Genetic Testing and Molecular Biomarkers. 2016;20(9):504-509. doi:10.1089/gtmb.2015.0302 Mehta N, Lazarin G, Spiegel E et al.

Carrier screening in the age of genomic medicine. Committee Opinion No. 690.

Obstet Gynecol 2017;129:e35–40 2 American College of Obstetricians and Gynecologists.

Responsible implementation of expanded carrier screening.

Eur J Hum Genet. Jun 2016;24(6):e1-e12. PMID 26980105 Henneman L, Borry P, Chokoshvili D, et al.

Carrier screening in the era of expanding genetic technology.

Genetics in Medicine. 2016;18(12):1214-1217. doi:10.1038/gim.2016.30. Arjunan A, Litwack K, Collins N, Charrow J.