Clinical Validity

Discover how we are taking screening to the next level.

Counsyl ensures the clinical validity of our genetic screens with a scientific approach to panel design, variant classification, and result reporting.

Overview

Panel design

Counsyl ensures the clinical validity of our tests with a scientific approach to panel design, variant classification, and result reporting. Our panels are specifically designed to maximize sensitivity for clinically actionable diseases.1 Variants identified in our clinical testing are subject to a robust curation process, consistent with the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) joint guidelines.2 Counsyl’s customized reporting provides the vital information needed to make informed health decisions.

Variant Classification

Real-time curation

Any novel variant identified in a patient sample at Counsyl undergoes real-time curation. Our team of expert variant curation scientists systematically gathers and critically evaluates all available evidence to determine a variant’s clinical significance.

After rigorous expert review, we use stringent criteria to classify variants according to ACMG guidelines.2

Achieving both high sensitivity and specificity,1 our variant interpretation pipeline is thorough, reproducible, and accurate. Counsyl’s classifications are highly concordant with those of other expert labs.3,4

Reporting

Clear, insightful reporting

Counsyl reports are clear, comprehensive, and can be easily accessed online by patients and providers. In addition to detailed results and relevant clinical information, our specialized reporting features provide key insights for the Foresight Carrier Screen including:

  • Both members of a couple screened can receive a combined report highlighting reproductive risk
  • Personalized risk assessment using ethnicity-specific disease incidence and detection rates
  • Dependent allele reporting identifying variants whose pathogenicity is contingent on the presence or absence of a second variant in the same gene5
  • Copy number variant reporting*

* The Foresight Carrier Screen includes panel-wide deletion calling, and duplication calling for certain prevalent conditions.

Our Team

Meet the Counsyl team

Counsyl’s laboratory directors oversee all aspects of clinical validity, from panel design to variant curation/interpretation and result reporting.

Counsyl’s team of over 30 expert variant curators are MS/PhD scientists and certified genetic counselors with multidisciplinary expertise in clinical counseling, biochemistry, biophysics, molecular biology, cell biology, population genetics, and bioinformatics. With 120+ years of combined curation experience, our team has classified more than 20,000 variants at Counsyl to date.

Peter Kang,
MD, MS, FCAP,
Executive Medical Director
Rebecca Mar-Heyming,
PhD, FACMG
Clinical Molecular Geneticist
Krista Borman Moyer,
MS, LCGC,
Director, Clinical Genomics
Saurav Guha,
PhD, FACMG,
Clinical Molecular Geneticist
Bethany Buckley,
PhD, DABMG,
Clinical Molecular Geneticist

Sharing data is part of our DNA

Counsyl is committed to public data sharing and regularly submits variant classifications to ClinVar. Sharing variant classification data promotes peer review and equal access to the vital information needed to make important health decisions. Data sharing directly benefits patients and providers by allowing laboratories to combine their knowledge and potentially resolve rare classification discrepancies.

References

  1. Beauchamp KA, Muzzey D, Wong KK, et al. Systematic design and comparison of expanded carrier screening panels. Genet Med. doi: 10.1038/gim.2017.69.
  2. Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405-424.
  3. Candille S, Judkins M, Castiblanco J, et al. Variant classification in an unaffected population, an example from expanded carrier screening and a comparison to ClinVar classifications” Poster presented at: 35th Annual Education Conference of the National Society of Genetic Counselors; September 28-October 1, 2016; Seattle, WA.
  4. Castiblanco J, Judkins M, Candille S, et al. Validation of internal laboratory variant classifications using ClinVar. Poster presented at: Association for Molecular Pathology (AMP) AMP 2016 Annual Meeting; November 10-12, 2016; Charlotte, NC.
  5. Spock, Judkins M, Connor J, et al. “The Frequency and Impact of Dependent Alleles in Expanded Carrier Screening” Poster presented at National Society of Genetic Counselors AEC, 2017, Cleveland, OH.