Health system-led early consent and direct contact of at-risk relatives: Pilot study results Article Swipe
Nora B. Henrikson
,
Aaron Scrol
,
Jamilyn M. Zepp
,
Melissa L. Anderson
,
Paula R. Blasi
,
John J. Ewing
,
Jane Grafton
,
James D. Ralston
,
Stephanie M. Fullerton
,
Kathleen A. Leppig
·
YOU?
·
· 2025
· Open Access
·
· DOI: https://doi.org/10.1159/000545404
YOU?
·
· 2025
· Open Access
·
· DOI: https://doi.org/10.1159/000545404
Introduction: At-risk relatives of probands with genetic variants associated with hereditary cancer risk should receive cascade genetic testing. In the U.S., probands are expected to notify their own at-risk relatives, but many relatives never learn of their risk, representing missed opportunity to reduce morbidity and mortality associated with hereditary cancers. Direct contact of relatives could reach relatives not contacted by the proband. We conducted a single-arm, prospective pilot evaluation of a direct contact intervention based on patient and family preferences. Here we report the study’s quantitative results, measured by proband and relative participation in the intervention follow-up survey. Methods: We recruited adults receiving genetic counseling for inherited cancer risk at one U.S. integrated health system. A genetic counselor offered to contact at-risk relatives. We surveyed probands and relatives at study enrollment and 6-8 weeks and evaluated administrative data to assess the program’s outreach to probands and relatives, its acceptability, and its limited efficacy. Results: We approached 148 probands before their genetic counseling appointment. 55 (37%) consented to study participation. Of these, 31 completed genetic testing, 29 of whom provided consent to contact 101 relatives. 44% (n=45) of relatives consented to be contacted by the study genetic counselor. Acceptability was high for both groups and no harms were reported. All relatives reached (n=43) received their proband’s test results, including 6 pathogenic/likely pathogenic findings. Conclusion: A direct contact program was acceptable, reached at-risk relatives and communicated proband test results. Direct contact with early consent of relatives holds promise for future research.
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Concepts
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1159/000545404
- OA Status
- diamond
- References
- 1
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4409140216
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W4409140216Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1159/000545404Digital Object Identifier
- Title
-
Health system-led early consent and direct contact of at-risk relatives: Pilot study resultsWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2025Year of publication
- Publication date
-
2025-04-03Full publication date if available
- Authors
-
Nora B. Henrikson, Aaron Scrol, Jamilyn M. Zepp, Melissa L. Anderson, Paula R. Blasi, John J. Ewing, Jane Grafton, James D. Ralston, Stephanie M. Fullerton, Kathleen A. LeppigList of authors in order
- Landing page
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https://doi.org/10.1159/000545404Publisher landing page
- Open access
-
YesWhether a free full text is available
- OA status
-
diamondOpen access status per OpenAlex
- OA URL
-
https://doi.org/10.1159/000545404Direct OA link when available
- Concepts
-
Proband, Medicine, Genetic counseling, Genetic testing, Family medicine, Outreach, Intervention (counseling), Psychiatry, Internal medicine, Genetics, Biology, Political science, Law, Mutation, GeneTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
0Total citation count in OpenAlex
- References (count)
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1Number of works referenced by this work
- Related works (count)
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10Other works algorithmically related by OpenAlex
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