Abstract
Assess the feasibility and acceptability of health system-led genetic risk notification in a US integrated health system. We conducted semi-structured phone interviews with individuals age 40–64 years who had undergone genetic sequencing, but had not yet received their results, assessing attitudes to direct outreach to relatives. During each interview, we collected contact information for adult relatives identified as members of the same system and attempted to identify each relative in administrative data. We conducted 20 interviews. Most participants expressed support for Kaiser Permanente Washington involvement in familial risk notification. Direct outreach to relatives received the most unqualified support; outreach to the relatives’ physician or interaction with the relatives’ electronic medical record received more tempered support. Support was motivated by the desire to have risk communicated accurately and quickly. The most common caveat was a desire to alert relatives before the health system contacted them. Of 57 named relatives who were members of the same health system, we retrieved a single match for 40 (70.2%) based on name or birthdate. Health system involvement in familial risk notification received support in a sample of patients in a US integrated health system, and identification of relatives is feasible.
Highlights
Assess the feasibility and acceptability of health system-led genetic risk notification in a US integrated health system
In the USA, a person with an actionable pathogenic variant is responsible for contacting their own family members and communicating familial risk
Up to a third of at-risk relatives may go unnotified, and miss the chance to benefit from genetic counseling, testing, and appropriate clinical follow-up (Taber et al 2015; Graves et al 2014; Fehniger et al 2013)
Summary
Assess the feasibility and acceptability of health system-led genetic risk notification in a US integrated health system. Up to a third of at-risk relatives may go unnotified, and miss the chance to benefit from genetic counseling, testing, and appropriate clinical follow-up (Taber et al 2015; Graves et al 2014; Fehniger et al 2013) Because they insure and provide care for multiple generations of families, integrated health systems in the USA could begin cascade screening programs, in which relatives are systematically identified and invited for testing and follow-up. The aim of this study was to assess the feasibility and acceptability of health system–led identification of actionable pathogenic variants from generation sequencing and risk notification of family members who receive care within the same health system
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