Informed Consent for Whole Genome Sequencing: Ideals and Norms Referenced by Early Participants

Completed

Conditions studied: Coronary Artery Disease, Proteus Syndrome, Coffin - Sins Syndrome, Familial Isolated Hyperparathyroidism, Dubouitz Syndrome

In brief

Since 2007, the cost of sequencing a diploid human genome has fallen dramatically, from approximately $70 million to $20,000. As affordable sequencing platforms become more widely available, the advancement of biomedical science will draw increasingly on whole genome sequencing research requiring large cohorts of diverse populations. Key policy, ethical and legal implications of these developments will need to be understood in order to promote the efficacy and effectiveness of genomic research going forward. An overall aim of this project is to obtain feedback on the informed consent process from some of the earliest particpants in studies using whole genome sequencing. A more specific goal is to characterize the salient personal and public references accessed by participants around the time of the informed consent process. By highlighting trends in participants views about study participation around the time of the initial informed consent process, we aim to advance the development of an ethically and socially relevant vocabulary with which to negotiate future terms of use for personal sequence data in genomic research. Participants will be asked to complete a one-time, semi-structured telephone interview lasting approximately 45 minutes in the period 2-8 weeks following their initial informed consent session at the NIH. They will be recruited from two NIH protocols employing whole genome sequencing for distinct purposes. They The ClinSeqTM Study is a large-scale medical sequencing project investigating the causal role of genetics in cardiovascular disease enrolling both symptomatic and healthy individuals. The Whole Genome Medical Sequencing for Gene Discovery Study (WGMS) enrolls children and adults for full sequencing with the aim of discovering the genetic etiology of rare conditions.

Key facts

Study ID
NCT01369953
Run by
National Human Genome Research Institute (NHGRI)
People needed
30
Starts
2011-05-29
Expected to finish
2014-01-31
Last updated by the study team
2018-07-26

Who can join

Age: 18 and older, up to 65. Sex: any. Healthy volunteers: not accepted.

You may not qualify if…

Where it is running

Full record on ClinicalTrials.gov

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