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Disclosing genetic research results: experiences of the Colon Cancer Family Registry

Background

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.

Aim

To document our diverse experiences in delivering clinically important genetic results and the uptake of genetic results by participants.

Methods

When a deleterious MMR gene mutation is identified in a family member, predictive testing is conducted on all enrolled relatives of the carrier, and a letter offering to disclose this information is sent to all family members. If participants choose to receive their results, genetic counseling is provided to participants free of charge. Protocols for the four sites currently offering to return genetic results are shown in Table 1.

Table 1 Protocols for returning genetic results

Results

Uptake of genetic test results by participants of families with MMR gene mutation results available ranged from 53-78%, (p=0.0001) (see Table 2).

Table 2 Uptake of genetic results

Discussion

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.

Conclusions

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.

Author information

Correspondence to Louise Keogh.

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This article is published under license to BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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Keogh, L., Fisher, D., Schully, S. et al. Disclosing genetic research results: experiences of the Colon Cancer Family Registry. Hered Cancer Clin Pract 9, P18 (2011). https://doi.org/10.1186/1897-4287-9-S1-P18

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Keywords

  • Genetic Test
  • Genetic Counseling
  • Research Participant
  • Germline Mutation
  • Mismatch Repair