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Potential research participants support the return of raw sequence data
Anna Middleton1, Caroline F Wright1, Katherine I Morley2
1Wellcome Trust Sanger Institute, Cambridge, UK.
Journal of Medical Genetics
|May 22, 2015
Summary
Genomic research participants are interested in receiving raw genetic sequence data, even without immediate clinical validation. This suggests potential future support for returning raw data as direct-to-consumer genomics services evolve.
Area of Science:
- Genomics
- Bioethics
- Public Health
Background:
- Clinical validation and health service follow-up are standard for returning health-related genomic findings.
- Genomic researchers face resource limitations and lack of access to clinicians for result delivery.
- Raw sequence data, while lacking immediate clinical value, presents an alternative for return.
Purpose of the Study:
- To explore public and professional attitudes towards receiving raw genomic sequence data.
- To assess participant interest in self-interpretation of raw genetic data.
- To gauge potential future acceptance of returning raw sequence data.
Main Methods:
- Survey distributed to <7000 members of the public and various health professionals.
- Inquiry into participants' hypothetical actions upon receiving raw sequence data.
- Analysis of attitudes across diverse stakeholder groups.
Main Results:
- 62% of participants expressed interest in using raw sequence data for personal clinical interpretation.
- Exploration of attitudes among the public, genomic researchers, and genetic/non-genetic health professionals.
- Data suggests a potential future willingness among sequencing study participants to receive raw data.
Conclusions:
- Returning raw sequence data is not currently recommended due to lack of validation.
- The evolving landscape of direct-to-consumer genomics may make raw data return a feasible option.
- Future sequencing studies might find participant support for returning raw genetic data.
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