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

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

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.

Study Overview

• Status: Completed
• Conditions: Coronary Artery Disease; Proteus Syndrome; Familial Isolated Hyperparathyroidism; Coffin - Sins Syndrome; Dubouitz Syndrome

Detailed Description

Since 2007, the cost of sequencing a diploid human genome has fallen dramatically, from approximately $70 million to $20,000 (Illumina, 2010). 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 (Lunshof et al., 2009; Need & Goldstein, 2009). 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.

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In addition to information about well-understood regions of the genome both sought-after and incidental whole genome sequencing yields results of probabilistic, uncertain, and changing significance over indefinite periods of time. Sequence data is most useful when shared widely among investigators in conjunction with detailed clinical information (Angrist, 2010). It may have implications for individuals and families and be of unclear clinical significance. As such, the boundary between clinical and research testing is dissolving, and standards for returning test results to research participants are non-existent (McGuire & Lupski, 2010). The difficulty of acquiring informed consent for studies involving whole genome sequencing is therefore a topic of active debate within the biomedical research community.

This proposed study approaches both informed consent and genomic medicine as iterative constructs shaped by civic values and social norms. Understanding the civic and social contexts where informed consent takes place is crucial in order to adapt it to new realities in genomic research. An overall aim of this inquiry is to solicit feedback on the informed consent process from some of the earliest adopters of whole genome sequencing in research. 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 and relationships between these civic values and social norms, we aim to advance the development of an ethically and socially relevant vocabulary with which to broker terms of use for personal sequence data.

Participants will be recruited from two NIH protocols employing whole genome sequencing for distinct purposes. 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.

• Study Type: Observational
• Enrollment (Actual): 30

Contacts and Locations

Study Locations

• United States
  • Maryland
    • Bethesda, Maryland, United States, 20892
      • National Human Genome Research Institute (NHGRI), 9000 Rockville Pike

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years to 65 years (Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

Description

• INCLUSION CRITERIA:
• 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

EXCLUSION CRITERIA:

• 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.

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Qualitative Description

Collaborators and Investigators

• Sponsor: National Human Genome Research Institute (NHGRI)

Publications and helpful links

General Publications

• 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.
• 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.
• 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.

Study record dates

Study Major Dates

• Study Start: May 29, 2011
• Study Completion: January 31, 2014

Study Registration Dates

• First Submitted: June 8, 2011
• First Submitted That Met QC Criteria: June 8, 2011
• First Posted (Estimate): June 9, 2011

Study Record Updates

• Last Update Posted (Actual): July 26, 2018
• Last Update Submitted That Met QC Criteria: July 25, 2018
• Last Verified: January 31, 2014

More Information

Terms related to this study

• Keywords: Genetic Testing; Genetic Counseling; Whole Genome Sequencing; Genetic Disorders; Civic Ideals/Social Norms
• Additional Relevant MeSH Terms: Pathologic Processes; Myocardial Ischemia; Heart Diseases; Cardiovascular Diseases; Vascular Diseases; Arteriosclerosis; Arterial Occlusive Diseases; Neoplasms; Endocrine System Diseases; Disease; Congenital Abnormalities; Musculoskeletal Diseases; Parathyroid Diseases; Coronary Disease; Bone Diseases; Musculoskeletal Abnormalities; Abnormalities, Multiple; Bone Diseases, Developmental; Limb Deformities, Congenital; Hamartoma Syndrome, Multiple; Hamartoma; Neoplasms, Multiple Primary; Coronary Artery Disease; Syndrome; Hyperparathyroidism; Proteus Syndrome
• Other Study ID Numbers: 999911185; 11-HG-N185