Study Reviews Family, Provider Responses to Rapid Whole-Genome Sequencing Follow-up

For a paper appearing in the European Journal of Human Genetics, a team from the Australian Genomic Health Alliance, the University of Melbourne, and elsewhere consider post-test interactions and other genetic follow-up experiences for patients, their families, and health professionals after rapid whole-genome sequencing (rWGS) done in the neonatal and pediatric intensive care contexts. Based on transcripts from semi-structured interviews with 30 parents to rWGS-profiled patients, seven genetic counselors, and four intensive care physicians, the team found a wide range of follow-up steps and experiences after rWGS, while exploring with the gaps flagged by patient families or providers and possible reasons for them. "Our findings emphasize the importance of follow-up contact between families and their child's medical genetic team in this context," they write, noting that "current approaches to follow up cannot be relied on to meet parents' needs, despite parents and health professionals having aligned intention about, and goals for, follow up."