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

NCT01369953 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 30

Last updated 2018-07-26

No results posted yet for this study

Summary

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.

Conditions

  • Coronary Artery Disease
  • Proteus Syndrome
  • Coffin - Sins Syndrome
  • Familial Isolated Hyperparathyroidism
  • Dubouitz Syndrome

Sponsors & Collaborators

  • National Human Genome Research Institute (NHGRI)

    lead NIH

Principal Investigators

  • Barbara B Biesecker · National Human Genome Research Institute (NHGRI)

Eligibility

Min Age
18 Years
Max Age
65 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2011-05-29
Completion
2014-01-31

Countries

  • United States

Study Locations

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Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT01369953 on ClinicalTrials.gov