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

NCT01369953 | Completed

• 2 other identifiers: 99991118511-HG-N185
• Study Type: observational
• Target: 30
• Locations: 1 country
• Sites: 1

Brief 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

Keywords

Civic Ideals/Social Norms; Genetic Counseling; Genetic Disorders; Genetic Testing; Whole Genome Sequencing

Outcome Measures

Primary Outcomes (1)

• Qualitative Description

Eligibility Criteria

• Age: 18 Years - 65 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• Adult over 18 years of age
• English-speaking
• Individuals consented to participate in either the NIH's ClinSeq or Whole Genome Medical Sequencing for Gene Discovery protocols

You may not qualify if:

• Children under 18 years of age
• Non-English speakers
• Individuals consented to participate in either the NIH's ClinSeq or Whole Genome Medical Sequencing for Gene Discovery protocols more than 8 weeks prior to their recruitment for this study.

Sponsors & Collaborators

• National Human Genome Research Institute (NHGRI): lead

Study Sites (1)

National Human Genome Research Institute (NHGRI), 9000 Rockville Pike

Bethesda, Maryland, 20892, United States

Location

Related Publications (3)

• Affleck G, Tennen H, Pfeiffer C, Fifield J. Appraisals of control and predictability in adapting to a chronic disease. J Pers Soc Psychol. 1987 Aug;53(2):273-9. doi: 10.1037//0022-3514.53.2.273.

  PMID: 3625467 BACKGROUND

• Angrist M. Only connect: personal genomics and the future of American medicine. Mol Diagn Ther. 2010 Apr 1;14(2):67-72. doi: 10.2165/11534710-000000000-00000.

  PMID: 20359249 BACKGROUND

• Annas GJ, Roche P, Green RC. GINA, genism, and civil rights. Bioethics. 2008 Aug;22(7):ii-iv. doi: 10.1111/j.1467-8519.2008.00693.x. No abstract available.

  PMID: 18786085 BACKGROUND

MeSH Terms

Conditions

Coronary Artery Disease; Proteus Syndrome; Hyperparathyroidism 2; Genetic Diseases, Inborn

Condition Hierarchy (Ancestors)

Coronary Disease; Myocardial Ischemia; Heart Diseases; Cardiovascular Diseases; Arteriosclerosis; Arterial Occlusive Diseases; Vascular Diseases; Hamartoma Syndrome, Multiple; Hamartoma; Neoplasms; Neoplasms, Multiple Primary; Bone Diseases, Developmental; Bone Diseases; Musculoskeletal Diseases; Limb Deformities, Congenital; Musculoskeletal Abnormalities; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Barbara B Biesecker

  National Human Genome Research Institute (NHGRI)

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Time Perspective: PROSPECTIVE
• Sponsor Type: NIH

Study Record Dates

• First Submitted: June 8, 2011
• First Posted: June 9, 2011
• Study Start: May 29, 2011
• Study Completion: January 31, 2014
• Last Updated: July 26, 2018

Record last verified: 2014-01-31

Locations

US (1)