Disclosing genetic research results: experiences of the Colon Cancer Family Registry
© Keogh et al; licensee BioMed Central Ltd. 2011
Published: 10 March 2011
Literature on the ethics of returning research-generated genetic results to research participants has not reported on the practical experience of this activity. The Colon Cancer Family Registry (Colon CFR) has recruited participants from the US, Canada, Australia and New Zealand. Colon CFR-wide molecular testing has identified deleterious germline mutations in a DNA mismatch repair (MMR) gene for members of 424 families (153 MLH1, 206 MSH2, 39 MSH6, 26 PMS2). Carriers of mutations in these genes are at high risk of colorectal, endometrial and other cancers.
To document our diverse experiences in delivering clinically important genetic results and the uptake of genetic results by participants.
Protocols for returning genetic results
Steps in the protocol
When do sites inform participants that genetic results may be available
When results available
Who provides counseling (Genetic Counselor = GC)
GC shared by study and hospital
MD or GC
government-funded GC service
GC employed by study
Number of sessions
Mode of delivery of genetic results
Telephone & mail
Uptake of genetic results
MMR mutation results available
Had genetic counselling
The variation in uptake of genetic information could be related to the variation in the potential for insurance discrimination and/or the differences in the cost to consumers of genetic testing in the research and clinic setting.
The return of genetic results and collection of uptake data has provided valuable information about the translation of these research findings and has led to translational research proposals. Delivering research-generated genetic results in the research setting, especially when sampling is population-based, provides both challenges and opportunities.
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