“Not pathogenic until proven otherwise”: perspectives of UK clinical genomics professionals toward secondary findings in context of a Genomic Medicine Multidisciplinary Team and the 100,000 Genomes Project

• DOI: 10.1038/gim.2017.157
• Publication Date: 2017-10-26T15:01:38Z
• Authors: Elizabeth Ormondroyd; Michael P. Mackley; Edward Blair; Judith Craft; Julian C. Knight; Jenny C. Taylor; John Taylor; Hugh Watkins
• Keywords: Male; Incidental Findings; 0303 health sciences; Genetics, Medical; Health Personnel; Disclosure; Genomics; Article; United Kingdom; 3. Good health; 03 medical and health sciences; Rare Diseases; Surveys and Questionnaires; Humans; Female; Genetic Predisposition to Disease; Genetic Testing; Genetic Association Studies

PurposeApproaches to secondary findings in genome sequencing (GS) are unresolved. In the United Kingdom, GS is now routinely available through 100,000 Genomes Project, which offers participants feedback of limited findings.MethodsIn Oxford, a Genomic Medicine Multidisciplinary Team (GM-MDT) governs local access GS, and reviews findings. Semistructured interviews were conducted with 19 GM-MDT members explore perspectives on findings.ResultsWhile enthusiastic about for diagnosing rare disease, question rationale screening largely because lack evidence clinical utility justification use resources. Members' views drawn from diverse experiences; they feel strong sense responsibility act participants' best interests. The capacity return should be enabled, but favor cautious approach that responsive accumulating evidence. Informed participant choice considered critical, yet challenging. Discrimination variants essential, requiring specialist input consensus. Multiple areas enhanced engagement education identified, i.e., patients, public, health-care professionals; at present, mainstreaming genomics may premature.ConclusionUK experts believe inform policy toward lacking, arguing caution.