Counsyl to Host Evolution of Carrier Screening Symposium, Present Nine Research Posters at the 2017 ACMG Annual Clinical Genetics Meeting

Counsyl researchers to review findings from the largest expanded carrier screening study published to date

SOUTH SAN FRANCISCO, Calif.--()--Counsyl, a DNA testing and genetic counseling service, will present new research findings on carrier screening, variant classification and inherited disease at the 2017 American College of Medical Genetics and Genomics (ACMG) Annual Clinical Genetics Meeting at the Phoenix Convention Center in Phoenix, Arizona this week.

Highlights from Counsyl’s activities at ACMG include:

Satellite Symposium1 Examining the Evolution of Carrier Screening

Counsyl experts will review findings from the largest expanded carrier screening study to date, discuss implications for these findings on screening guidelines and clinical practice, and explore the technological advances in next generation sequencing that maximize detection of at-risk couples.

  • Friday, March 24, 7:15am to 8:45am MST

Research Posters Presenting Clinical Insights on Genetics

Counsyl will share insights from its clinical experience in the following poster sessions:


Thursday, March 23, 10:00am to 11:30am MST

Poster     Full Title     Primary Author
165     Frequency of Mutations in Moderate Penetrance Breast Cancer Genes NBN and ATM in an Unselected Carrier Screening Population     Price, K.
315     ClinVar Submission Profiles (Top Rated)     Kaseniit, E.
443     High-Throughput Curation and Interpretation of Inherited Disease Variants in a CLIA Laboratory     Karimi, K.
549     Counseling Experience with Incidental Cancer Genes in Expanded Carrier Screening     Wong, K.
757     Copy Number Variant Calling on a 177 Gene Expanded Carrier Screening Panel Including DMD (Top Rated)     Beauchamp, K.

Friday, March 24, 10:30am to 12:00pm MST

Poster     Full Title     Primary Author
150     Discordance Rates in Reduced Penetrance Genes: A Look at ATM and CHEK2     Judkins, M.
176     Analysis of Unique Mutation Distribution, Ethnicity and Test Indication Trends in Over 1,200 Positive Cases Identified by Inherited Cancer Screening     Bucheit, L.
346     Duplication Tag SNP g.27134T>G Should Not Be Considered Diagnostic of SMA Carrier Status (Top Rated)     Davison, D.
736     Ensuring high accuracy of clinically relevant results from NGS data using high-throughput, custom software that enables expert human review     Haas, K.

Exploring The Gene Machine: Book Signing and Giveaway

Counsyl will host a book signing with award-winning journalist and author, Bonnie Rochman, whose new book, The Gene Machine: How Genetic Technologies Are Changing the Way We Have Kids--and the Kids We Have, explores the new frontier of genetic technologies.

  • Wednesday, March 22, 5:30pm to 7:30pm MST
  • Thursday, March 23, 10:00am to 12:00pm, 1:00pm to 3:00pm MST

Stay updated on Counsyl news during ACMG by searching for #ACMGMtg17, and by following Counsyl on Twitter.

About Counsyl

Counsyl is a DNA testing and genetic counseling service. We're committed to helping patients understand their DNA and how it can inform important health decisions. Whether it’s starting a family or evaluating risk for cancer, Counsyl's DNA tests provide patients with early awareness about genetic conditions, so they can live informed and prepare for the future. Counsyl has screened more than 750,000 patients and served more than 10,000 healthcare professionals. For more information, visit Sign up for news announcements from Counsyl at

1 The Symposium is not part of the official ACMG Annual Meeting program, and ACMG does not approve or endorse any commercial products or services discussed during the Symposium or offered for sale by the corporate supporter of the Symposium. ACMG has reviewed and approved this symposium as appropriate for presentation as an independent educational activity held in conjunction with the ACMG Annual Meeting. CME credits are not provided for this sponsored session.


Donelle M. Gregory


Donelle M. Gregory