Informed Consent for Whole Genome Sequencing: Ideals and Norms Referenced by Early Participants
| Status: | Completed |
|---|---|
| Conditions: | Peripheral Vascular Disease, Cardiology, Endocrine |
| Therapuetic Areas: | Cardiology / Vascular Diseases, Endocrinology |
| Healthy: | No |
| Age Range: | 18 - 65 |
| Updated: | 7/28/2018 |
| Start Date: | May 29, 2011 |
| End Date: | January 31, 2014 |
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.
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.
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.
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.
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.
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.
- 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.
We found this trial at
1
site
9000 Rockville Pike
Bethesda, Maryland 20892
Bethesda, Maryland 20892
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