Trial record 1 of 2 for:    "Proteus syndrome"
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Informed Consent for Whole Genome Sequencing: Ideals and Norms Referenced by Early Participants

This study has been completed.
Sponsor:
Information provided by:
National Institutes of Health Clinical Center (CC)
ClinicalTrials.gov Identifier:
NCT01369953
First received: June 8, 2011
Last updated: February 19, 2014
Last verified: January 2014
  Purpose

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.


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

Study Type: Observational
Study Design: Time Perspective: Prospective
Official Title: Informed Consent for Whole Genome Sequencing: Civic Ideals and Social Norms Referenced by Early Participants

Resource links provided by NLM:


Further study details as provided by National Institutes of Health Clinical Center (CC):

Primary Outcome Measures:
  • Qualitative Description

Estimated Enrollment: 40
Study Start Date: May 2011
Estimated Study Completion Date: January 2014
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.

  Eligibility

Ages Eligible for Study:   18 Years to 65 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Criteria
  • 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.
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01369953

Locations
United States, Maryland
National Human Genome Research Institute (NHGRI), 9000 Rockville Pike
Bethesda, Maryland, United States, 20892
Sponsors and Collaborators
Investigators
Principal Investigator: Barbara B Biesecker National Human Genome Research Institute (NHGRI)
  More Information

Publications:
ClinicalTrials.gov Identifier: NCT01369953     History of Changes
Other Study ID Numbers: 999911185, 11-HG-N185
Study First Received: June 8, 2011
Last Updated: February 19, 2014
Health Authority: United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):
Civic Ideals/Social Norms
Genetic Counseling
Genetic Disorders
Genetic Testing
Whole Genome Sequencing

Additional relevant MeSH terms:
Proteus Syndrome
Coronary Artery Disease
Myocardial Ischemia
Coronary Disease
Hyperparathyroidism
Hyperparathyroidism, Primary
Heart Diseases
Cardiovascular Diseases
Arteriosclerosis
Arterial Occlusive Diseases
Vascular Diseases
Parathyroid Diseases
Endocrine System 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

ClinicalTrials.gov processed this record on August 21, 2014