Views of genetic health professionals, patients, and next of kin on retesting and recontact with results from updated genetic testing

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 reflexive thematic analysis. Views of GHPs and recontacted individuals were explored and compared, focusing on practice and process implications. Overall, retesting and recontact with new genetic information were considered unconventional but acceptable. The need to balance desirability with feasibility was recognized, although diverging views were evident between GHPs and patients/NOK regarding the scope of retesting, responsibilities, and processes. Providing opportunities to decline new information and timely appointments for new results were important strategies to cushion the impact of recontact for patients. Recontact with support was valued, but barriers remain, including limited resources and unclear responsibilities. These findings provide valuable patient, NOK, and GHP voices to inform best practice recontact within resource-limited health systems.