lunes, 2 de junio de 2014

Return of Genomic Results to Research Partici... [Am J Hum Genet. 2014] - PubMed - NCBI

2014 May 7. pii: S0002-9297(14)00181-5. doi: 10.1016/j.ajhg.2014.04.009. [Epub ahead of print]

Return of Genomic Results to Research Participants: The Floor, the Ceiling, and the Choices In Between.

Jarvik GP1, Amendola LM2, Berg JS3, Brothers K4, Clayton EW5, Chung W6, Evans BJ7, Evans JP3, Fullerton SM8, Gallego CJ2, Garrison NA5, Gray SW9, Holm IA10, Kullo IJ11, Lehmann LS12, McCarty C13, Prows CA14, Rehm HL12, Sharp RR15, Salama J2, Sanderson S16, Van Driest SL5, Williams MS17, Wolf SM18,Wolf WA19; eMERGE Act-ROR Committee and CERC Committee; CSER Act-ROR Working Group, Burke W8.

Abstract

As more research studies incorporate next-generation sequencing (including whole-genome or whole-exome sequencing), investigators and institutional review boards face difficult questions regarding which genomic results to return to research participants and how. An American College of Medical Genetics and Genomics 2013 policy paper suggesting that pathogenic mutations in 56 specified genes should be returned in the clinical setting has raised the question of whether comparable recommendations should be considered in research settings. The Clinical Sequencing Exploratory Research (CSER) Consortium and the Electronic Medical Records and Genomics (eMERGE) Network are multisite research programs that aim to develop practical strategies for addressing questions concerning the return of results in genomic research. CSER and eMERGE committees have identified areas of consensus regarding the return of genomic results to research participants. In most circumstances, if results meet an actionability threshold for return and the research participant has consented to return, genomic results, along with referral for appropriate clinical follow-up, should be offered to participants. However, participants have a right to decline the receipt of genomic results, even when doing so might be viewed as a threat to the participants' health. Research investigators should be prepared to return research results and incidental findings discovered in the course of their research and meeting an actionability threshold, but they have no ethical obligation to actively search for such results. These positions are consistent with the recognition that clinical research is distinct from medical care in both its aims and its guiding moral principles.