Journal article
Views of genetic health professionals, patients, and next of kin on retesting and recontact with results from updated genetic testing
AL Young, C Speechly, A Morrow, K Ross, C Murphy, N Poplawski, L Andrews, R Harris, J Kirk, K Tucker, C Jacobs, T Nguyen-Dumont, MC Southey, AM Willis
Journal of Genetic Counseling | Published : 2025
DOI: 10.1002/jgc4.70128
Abstract
Retesting individuals who previously had uninformative BRCA1/2 genetic testing can identify new clinically actionable information. However, this practice is limited due to concerns regarding how to retest and recontact ethically with limited resources. This qualitative study explored the perspectives of genetic health professionals (GHPs), patients and next of kin (NOK) regarding retesting and recontact with new results. Participants were involved in an Australia-wide study, which retested patients under a waiver of consent and recontacted those with a clinically actionable variant. Semi-structured interviews with 14 GHPs and 30 patients/NOK regarding their experiences were analyzed using re..
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Awarded by National Health and Medical Research Council