Counsyl Highlights Importance of Patient Access to Genetic Testing at the 2018 ACMG Annual Clinical Genetics Meeting

SOUTH SAN FRANCISCO, Calif.--(BUSINESS WIRE)-- Counsyl, a genetic screening and counseling services company, will present new research findings on carrier screening, prenatal screening, variant classification and inherited disease at the 2018 American College of Medical Genetics and Genomics (ACMG) Annual Clinical Genetics Meeting on April 10-14, 2018, at the Charlotte Convention Center in Charlotte, N.C. As part of the conference agenda, Counsyl will present a TED-style talk covering the gaps in access to genetic screening and counseling titled, Are We Barriers or Necessary Mediators?
TED-Style Talk Presentations & Symposium
TED-Style Talk: Are We Barriers or Necessary Mediators?
Thursday, April 12, 8:00-9:00 a.m. EDT
Free Online Access (Register here)
Counsyl’s Kaylene Ready presents a provocative look at the current state of access to genetic screening and counseling and presents ideas around alternative service delivery models designed to improve access despite the shortage of genetics service providers. With 90% of patients at high risk for hereditary cancer currently not appropriately identified1 and the fact that non-invasive prenatal screening will soon be available to all women, Kaylene will discuss how healthcare leaders can address the shortage of professionals and work together to find solutions.
CME Satellite Symposium2: Technology and Services for Improving the Efficiency of the Genetics Workforce
Friday, April 13, 7:15-8:45 a.m. EDT
The genetic testing and counseling space is in the midst of a supply and demand crisis. There are too few genetics professionals in the workforce to address the high - and steadily increasing - demand for services. The result is a gap in access to these services for many of the patients who can benefit the most from screening. This session will introduce ideas around technology and services with the potential to address limitations in the available number of genetic counselors and geneticists by streamlining discussion around billing, aiding pre- and post-test education, and increasing the level of genetic care by other medical providers.
Poster & Platform Presentations
Date and Time   Title   Author   Format

Thursday, April 12
10:00–11:30 a.m. EDT

  A Robust Curation Quality Assurance Program Ensures High Quality Variant Interpretation   M. Hunter   Poster Presentation #417

Thursday, April 12
10:00–11:30 a.m. EDT

  What’s in a VUS Rate? Simulated VUS Calculations for Hereditary Cancer Genes Using Population Frequency Data and ClinVar Submissions   E. Kaseniit   Poster Presentation #291

Friday, April 13
4:30-4:45 p.m. EDT

  Clinical Impact and Cost Effectiveness of a 176-Condition Expanded Carrier Screen   K. Beauchamp   Platform Presentation

Friday, April 13
4:45-5:00 p.m. EDT

  Next-Generation Counseling: A Model for Non-Invasive Prenatal Screening Results Disclosure and Patient Management   A. Arjunan  

Platform Presentation



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1 Hughes, Kevin S. 2017. “Genetic Testing: What Problem Are We Trying to Solve?” Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology, August, JCO2017747899. and Bellcross CA, et al. Genet Med. 2015;17(1):43–50. Patel S et al. Knowledge and Uptake of Genetic Counseling and Colonoscopic Screening Among Individuals at Increased Risk for Lynch Syndrome. Am J Gastroenterol (2016)
2 Jointly provided by the Elsevier Office of Continuing Medical Education and Miller Medical Communications, LLC; supported by an independent educational grant from Counsyl. This symposium is not part of the official American College of Medical Genetics and Genomics (ACMG) Annual Meeting program. 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.

About Counsyl

Counsyl provides actionable information that guides women and their families in making critical and timely health decisions. Counsyl operates a high-complexity clinical laboratory that offers the Foresight™ Carrier Screen, Prelude™ Prenatal Screen and Reliant™ Cancer Screen, as well as supporting services through Counsyl Complete™, a proprietary suite of solutions, designed to seamlessly integrate Counsyl screening into clinic workflows and patients’ lives. Our custom-designed clinical laboratory provides highly reliable results, fast test processing speeds and rapid scalability, all at low capital and operating costs. Since 2007, we’ve worked with tens of thousands of providers to deliver over one million patient results. For more information, visit


Donelle M. Gregory, 650-567-3600



Source: Counsyl

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