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Deprecated: Implicit conversion from float 334.4 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Genet+Med 2018 ; 20 (3): 320-8 Nephropedia Template TP
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?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 #MMPMID29261176
Ormondroyd E; Mackley MP; Blair E; Craft J; Knight JC; Taylor JC; Taylor J; Watkins H
Genet Med 2018[]; 20 (3): 320-8 PMID29261176show ga
Purpose: Approaches to secondary findings in genome sequencing (GS) are unresolved. In the United Kingdom, GS is now routinely available through the 100,000 Genomes Project, which offers participants feedback of limited secondary findings. Methods: In Oxford, a Genomic Medicine Multidisciplinary Team (GM-MDT) governs local access to GS, and reviews findings. Semistructured interviews were conducted with 19 GM-MDT members to explore perspectives on secondary findings. Results: While enthusiastic about GS for diagnosing rare disease, members question the rationale for genome screening largely because of lack of evidence for clinical utility and limited justification for use of resources. Members? views are drawn from diverse experiences; they feel a strong sense of responsibility to act in participants? best interests. The capacity to return limited secondary findings should be enabled, but members favor a cautious approach that is responsive to accumulating evidence. Informed participant choice is considered critical, yet challenging. Discrimination of variants is considered essential, and requiring of specialist input and consensus. Multiple areas requiring enhanced engagement and education are identified, i.e., for patients, the public, and health-care professionals; at present, mainstreaming of genomics may be premature. Conclusion: UK experts believe that evidence to inform policy toward secondary findings is lacking, arguing for caution. Supplementary information: The online version of this article (doi:10.1038/gim.2017.157) contains supplementary material, which is available to authorized users.