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. 2023 Nov;25(11):100923.
doi: 10.1016/j.gim.2023.100923. Epub 2023 Jul 5.

Most people share genetic test results with relatives even if the findings are normal: Family communication in a diverse population

Jessica Ezzell Hunter  1 , Leslie Riddle  2 , Galen Joseph  2 , Laura M Amendola  3 , Marian J Gilmore  4 , Jamilyn M Zepp  4 , Elizabeth Shuster  5 , Joanna E Bulkley  4 , Kristin R Muessig  4 , Katherine P Anderson  6 , Katrina A B Goddard  4 , Benjamin S Wilfond  7 , Michael C Leo  5 ; CHARM study team
Collaborators, Affiliations

Most people share genetic test results with relatives even if the findings are normal: Family communication in a diverse population

Jessica Ezzell Hunter et al. Genet Med. 2023 Nov.

Abstract

Purpose: With increasing utilization of genetic testing, sharing genetic information can become part of general family health communication while providing biological relatives with important information about their own genetic risk. Importantly, little is known about motivations for and barriers to family communication of genetic information in historically underserved populations.

Methods: Using mixed methods, we explored patient experiences with family communication in a study population of English- and Spanish-speaking adults aged 18 to 49 years, enriched for participants from historically underserved backgrounds. Risk screening for hereditary cancer guided genetic testing for cancer risk genes and other medically actionable findings.

Results: Most participants overall (91%), including most with normal findings (89%), shared or planned to share their results with relatives. Common motivations for sharing results were to give relatives information about their genetic risk and because the participant thought the results were interesting. Reasons for not sharing were limited contact with relatives, perceptions of limited clinical utility for relatives, and concern that discussion of genetic information was stigmatized or taboo.

Conclusion: Results demonstrate high rates of sharing genetic information, indicate motivations for sharing go beyond facilitating genetic testing for relatives, and suggest general willingness to share genetic information as part of family health communication.

Keywords: Cascade testing; Family communication; Genetic counseling; Hereditary cancer; Historically underserved.

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Conflict of interest statement

Conflict of Interest Laura Amendola is an employee and shareholder of Illumina. The remaining authors have no conflict of interest to disclose.

Figures

Figure 1.
Figure 1.
Whether study participants shared their study results with their biological relatives (n=558). Heterozygous group includes participants with a single P/LP MUTYH variant.
Figure 2:
Figure 2:
Sharing with specific biological relatives among study participants who shared with at least one biological relative (n=457). Heterozygous group includes participants with a single P/LP MUTYH variant. Results do not include “Not Applicable” responses for each relative type.
Figure 3.
Figure 3.
What information was shared by study participants who shared genetic test results with biological relatives (n=457). More than one response could be selected.
Figure 4.
Figure 4.
Perspectives among participants who shared their genetic test results (n=457) on the importance of various reasons for sharing their genetic test results with their relatives.
Figure 4.
Figure 4.
Perspectives among participants who shared their genetic test results (n=457) on the importance of various reasons for sharing their genetic test results with their relatives.
See this image and copyright information in PMC

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