Information-seeking preferences in diverse patients receiving a genetic testing result in the Clinical Sequencing Evidence-Generating Research (CSER) study

Anne Slavotinek; Hannah Prasad; Simon Outram; Sarah Scollon; Shannon Rego; Tiffany Yip; Hannah Hoban; Kate M Foreman; Whitley Kelley; Candice Finnila; Jonathan Berg; Priyanka Murali; Katherine E Bonini; Lisa J Martin; Adam Hott

doi:10.1016/j.gim.2023.100899

Information-seeking preferences in diverse patients receiving a genetic testing result in the Clinical Sequencing Evidence-Generating Research (CSER) study

Genet Med. 2023 Sep;25(9):100899. doi: 10.1016/j.gim.2023.100899. Epub 2023 May 19.

Authors

Anne Slavotinek¹, Hannah Prasad², Simon Outram³, Sarah Scollon⁴, Shannon Rego⁵, Tiffany Yip⁵, Hannah Hoban⁵, Kate M Foreman⁶, Whitley Kelley⁷, Candice Finnila⁷, Jonathan Berg⁶, Priyanka Murali⁸, Katherine E Bonini⁹, Lisa J Martin¹⁰, Adam Hott⁷

Affiliations

¹ Division of Medical Genetics, Department of Pediatrics, University of California, San Francisco, San Francisco, CA; Institute for Human Genetics, University of California, San Francisco, San Francisco, CA. Electronic address: anne.slavotinek@cchmc.org.
² Institute for Human Genetics, University of California, San Francisco, San Francisco, CA.
³ Institute for Health & Aging, School of Nursing, University of California San Francisco, San Francisco, CA.
⁴ Department of Pediatrics, Baylor College of Medicine, Houston, TX.
⁵ Division of Medical Genetics, Department of Pediatrics, University of California, San Francisco, San Francisco, CA; Institute for Human Genetics, University of California, San Francisco, San Francisco, CA.
⁶ Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC.
⁷ HudsonAlpha Institute for Biotechnology, Huntsville, AL.
⁸ Department of Medicine (Medical Genetics), University of Washington Medical Center, Seattle, WA.
⁹ Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY.
¹⁰ Division of Human Genetics Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH.

PMID: 37212252
PMCID: PMC10524447 (available on 2024-09-01)
DOI: 10.1016/j.gim.2023.100899

Abstract

Purpose: Accurate and understandable information after genetic testing is critical for patients, family members, and professionals alike.

Methods: As part of a cross-site study from the Clinical Sequencing Evidence-Generating Research consortium, we investigated the information-seeking practices among patients and family members at 5 to 7 months after genetic testing results disclosure, assessing the perceived utility of a variety of information sources, such as family and friends, health care providers, support groups, and the internet.

Results: We found that individuals placed a high value on information obtained from genetics professionals and health care workers, independent of genetic testing result case classifications as positive, inconclusive, or negative. The internet was also highly utilized and ranked. Study participants rated some information sources as more useful for positive results compared with inconclusive or negative outcomes, emphasizing that it may be difficult to identify helpful information for individuals receiving an uncertain or negative result. There were few data from non-English speakers, highlighting the need to develop strategies to reach this population.

Conclusion: Our study emphasizes the need for clinicians to provide accurate and comprehensible information to individuals from diverse populations after genetic testing.

Keywords: Diverse populations; Exome sequencing; Genetic testing; Genome sequencing; Information-seeking preferences.

Publication types

Research Support, N.I.H., Extramural

MeSH terms

Family
Genetic Testing*
Humans
Information Seeking Behavior*
Population Groups
Uncertainty

Grants and funding

U01 HG009599/HG/NHGRI NIH HHS/United States