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Expanded Carrier Screening: Eliminating Barriers to Access and Reducing Disparities

July 29, 2021 @ 11:00 am - July 30, 2021 @ 3:00 pm EDT

July 29, 11 a.m.- 3 p.m. — Expanded Carrier Screening (Day 1)

July 30, 11 a.m.-3 p.m. — Expanded Carrier Screening Policy Discussion (Day 2)

Genetic screening is a prime example of translating advances in human genomics research into an intervention with a direct benefit to public health. A variety of methods are available to screen adults, fetuses, and newborns — all with a goal of gaining insight into the risk posed by certain heritable conditions.

Expanded carrier screening (ECS) can help women make informed decisions about their reproductive health and pregnancy management, as well as improve maternal and fetal outcomes by allowing preparation to care for children who may be affected by a genetic disorder. However, challenges with integrating research and development advances into health care and regulatory systems have left gaps in preventive care for patients.

As part of our Genetic Screening Program, SWHR is convening an interdisciplinary working group of health care providers, medical professional society leaders, patients/patient advocates, policy experts, and diagnostic company scientists for a closed roundtable meeting on July 29-30 to discuss how to eliminate barriers to access and reduce health disparities related to ECS.


July 29, 2021 @ 11:00 am EDT
July 30, 2021 @ 3:00 pm EDT
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The objectives of the roundtable are to:

  • Review the science and healthcare landscape concerning ECS and explore the best means to develop clinical guidelines and strategies for increased implementation
  • Identify knowledge gaps, unmet patient needs, and relevant policies that present barriers to equitable access to ECS and quality care for women
  • Pinpoint opportunities to leverage innovation, increase access to care, and improve maternal and infant health outcomes
  • Develop and disseminate materials to expand education and raise awareness about ECS among women and their families, health care providers, and policy stakeholders

Roundtable Members

Kara Ayers, PhD, Associate Director, University of Cincinnati Center for Excellence in Developmental Disabilities

Joseph Biggio, Jr., MD, MS, System Chair for Women’s Services and Maternal-Fetal Medicine, Ochsner Health

Natasha Bonhomme, Founder, Expecting Health

Altovise T. Ewing, PhD, LCGC, Senior Science Leader for Global Health Equity Strategy, Genentech

Stephanie Gandomi, MBA, MS, CGC, Health Plans Director-Policy Specialist, Ambry Genetics

James Goldberg, MD, Consultant, Women’s Health Medical Affairs

Joan Kegerize, JD, Vice President of Reimbursement and Scientific Affairs, American Clinical Laboratory Association

Summer Pierson, MS, LCGC, Senior Manager, Provider Engagements and Relationships, Myriad Genetics

Marianna Raia, MS, CGC, Associate Director of Programs, Expecting Health

Robert Nathan Slotnick, MD, Medical Director for Reproductive Health, Invitae Corporation

Leah Smith, Project Coordinator, Center for Dignity in Healthcare for People with Disabilities

Katie Stoll, MS, LGC, Genetic Counselor and Executive Director, Genetic Support Foundation

Anna Torrey, Carrier Advisory Committee member, Remember the Girls

Patricia D. Winters, CGC, Senior Manager of Medical Affairs, Illumina