Tension with traditional research structure and goals: "...almost all research participants wanted disclosure of at least some types of incidental findings."

Eur J Hum Genet. 2015 Jan 21. doi: 10.1038/ejhg.2014.298. [Epub ahead of print]

Research participants in NGS studies want to know about incidental findings.

Jelsig AM1, Qvist N2, Brusgaard K1, Ousager LB1.

Author information

• 1Department of Clinical Genetics, Odense University Hospital, Odense C, Denmark.
• 2Surgical Department A, Odense University Hospital, Odense C, Denmark.

Abstract

Following the implementation of high-throughput sequencing legal and ethical issues are discussed intensively. The management of incidental findings (IFs) in a research setting have been investigated but there is a lack of literature concerning research participant's perspective. The aim of this study was to investigate whether research participants want disclosure of IFs and what kind of IFs they want to know about. One hundred and twenty-seven research participants in a study of gastrointestinal polyps were informed about whole-exome sequencing and the risk of IFs. They were asked to decide whether they (A) wanted disclosure of IFs no matter whether the variants were associated with a non-treatable or non-preventable condition, (B) wanted disclosure of variants associated with treatable or preventable conditions or (C) wanted no disclosure at all. Participants who wanted disclosure of all the IFs (A) accounted for the majority (n=78), 45 of the participants only wanted disclosure of variants, which could lead to surveillance or treatment (B) and 4 participants did not want IFs to be disclosed at all (C). The study showed that almost all research participants wanted disclosure of at least some types of IFs.