Volume 9 Supplement 1

Proceedings of the 14th Annual Meeting of the Collaborative Group of the Americas on Inherited Colorectal Cancer

Open Access

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

  • Louise Keogh1Email author,
  • Douglass Fisher2,
  • Sheri Schully3,
  • Jan Lowery4,
  • Dennis Ahnen5,
  • Judi Maskiell6,
  • Noralane Lindor7,
  • John Hopper8,
  • Terrilea Burnett9,
  • Spring Holter10,
  • Sheri Sheinfeld Gorin11,
  • Pam Sinicrope12 and
  • for the Colon Cancer Family Registry
Hereditary Cancer in Clinical Practice20119(Suppl 1):P18

https://doi.org/10.1186/1897-4287-9-S1-P18

Published: 10 March 2011

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

Steps in the protocol

Ontario

Mayo

Australasia

Hawaii

When do sites inform participants that genetic results may be available

At enrolment

At enrolment

At enrolment

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

2

2

2

2

Mode of delivery of genetic results

In person

Telephone & mail

In person

In person

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

 

Australasia

(1999-2009)

Mayo

(2008-2010)

Ontario

(1998-2010)

Hawaii

(1998-2010)

MMR mutation results available

805

185

260*

17*

Had genetic counselling

504

145

197

12

Received results

493

144

179

9

Decision pending

15

12

23

3

Uptake

61%

78%

69%

53%

* Probands only

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.

Authors’ Affiliations

(1)
Centre for Women’s Health, Gender and Society, University of Melbourne
(2)
Fred Hutchinson Cancer Research Center
(3)
Epidemiology and Genetics Research Program, Division of Cancer Control and Population Sciences, National Cancer Institute
(4)
Department of Epidemiology, University of Colorado
(5)
Division of Gastroenterology, University of Colorado
(6)
Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, University of Melbourne
(7)
Department of Medical Genetics, Mayo Clinic
(8)
Public Health Sciences, Fred Hutchinson Cancer Research Center
(9)
University of Hawaii
(10)
Zane Cohen Centre for Digestive Diseases, Mount Sinai Hospital
(11)
Department of Epidemiology, Joseph L. Mailman School of Public Health of Columbia University
(12)
Department of Psychiatry and Psychology, Behavioral Health Research Program, Cancer Center, Mayo Clinic

Copyright

© Keogh et al; licensee BioMed Central Ltd. 2011

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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