2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Moving beyond cascade genetic testing in first-degree relatives by using genealogy data to identify and genetically test distant relatives

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This article discusses the potential use of genealogy data to identify and genetically test distant relatives for cardiovascular diseases. Currently, cascade testing in first-degree relatives is used to expand the benefits of genetic testing. However, using publicly available genealogy records, it may be possible to extend this testing to distant relatives.<br /><br />The protocol for genetic testing in distant relatives consists of three steps: using the Intermountain Genealogy Registry to identify pedigrees with high rates of cardiomyopathies, recruiting patients with positive genetic variants to participate in an engagement session for feedback, and seeking oversight from ethical and legal experts for final protocol development.<br /><br />Preliminary results showed that a large number of high-risk pedigrees and family members at risk for severe cardiovascular diseases can be identified. The engagement session revealed that probands in pedigrees supported extending testing to distant relatives, although the approach may need to be tailored for each individual and family. Formation of support groups may also be important.<br /><br />Participant demographics showed a range of ages, races/ethnicities, educational backgrounds, income levels, living areas, and household sizes.<br /><br />During the engagement session, participants supported approaching distant relatives for genetic testing due to the benefits it offers in terms of prevention, information for decision-making, and saving lives. There were suggestions to approach family members rather than healthcare providers and to use genealogy data for identifying distant relatives.<br /><br />Concerns were raised about privacy and HIPAA regulations, finding distant relatives to contact, and potential consequences of sharing genetic information. Suggestions to address these concerns included anonymizing patient data, protecting the privacy of minors, and using publicly available genealogy records.<br /><br />Overall, the results from this study are encouraging, and a protocol for expanding genetic testing in distant relatives is being developed. Pilot studies are planned to address ethical and legal issues.

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Presenting Author - Stacey Knight, PhD; Co-Author - Nephi Walton, MD, MS, FACMG, FAMIA; Co-Author - Jeffrey L. Anderson, MD; Co-Author - Michael Cutler, DO, PhD; Co-Author - Melanie Emmerson, CGC; Co-Author - Virginia Hebl, MD; Co-Author - Viet Le, PA; Co-Author - John Carlquist, PhD; Co-Author - Heidi T. May, PhD; Co-Author - Shelby Moench, MLS; Co-Author - Kirk Knowlton, MD;

Meta Tag

Cardiovascular System

Ethical Legal and Social Issues

Genetic Testing

Co-Author Nephi Walton, MD, MS, FACMG, FAMIA

Co-Author Jeffrey L. Anderson, MD

Co-Author Michael Cutler, DO, PhD

Co-Author Melanie Emmerson, CGC

Co-Author Virginia Hebl, MD

Co-Author Viet Le, PA

Co-Author John Carlquist, PhD

Co-Author Heidi T. May, PhD

Co-Author Shelby Moench, MLS

Co-Author Kirk Knowlton, MD

Presenting Author Stacey Knight, PhD

Keywords

genealogy data

genetic testing

distant relatives

cardiovascular diseases

cascade testing

pedigrees

cardiomyopathies

engagement session

ethical and legal experts

support groups