LETTERS TO JMG

Direct contact in inviting high-risk members of hereditary colon cancer families to genetic counselling and DNA testing

K Aktan-Collan^1,2, A Haukkala¹, K Pylvänäinen⁶, H J Järvinen⁵, L A Aaltonen², P Peltomäki², E Rantanen³, H Kääriäinen^3,4, J-P Mecklin⁶

¹ Department of Social Psychology; University of Helsinki, Helsinki, Finland
² Department of Medical Genetics, University of Helsinki, Helsinki, Finland
³ Department of Medical Genetics, University of Turku, Turku, Finland
⁴ National Public Health Institute, Helsinki, Finland
⁵ Department of Surgery, Helsinki University Central Hospital, Helsinki, Finland
⁶ Finnish HNPCC research group, Department of Surgery, Jyväskylä Central Hospital, Jyväskylä, Finland

Katja Aktan-Collan, MD, PhD, Department of Medical Genetics Biomedicum Helsinki, PO Box 63 (Haartmaninkatu 8) FIN-00014 University of Helsinki, Finland; katja.aktan-collan{at}helsinki.fi

Background: Identification of hereditary predisposition to cancer has limited significance if not followed by efficient cancer prevention in the family. Probands are traditionally left to inform their relatives about the increased risk, but distant relatives may remain uninformed. An approach to contacting directly at-risk persons assumed to be unaware of their increased cancer risk was taken. With cancer prevention as the ultimate goal, the study was aimed at investigating attitudes towards and psychosocial consequences of this novel strategy.

Methods: In families with hereditary non-polyposis colorectal cancer (Lynch syndrome), 286 healthy adult relatives with a 50% risk of a predisposing mutation were contacted by letter. Of these, 112 participated in counselling and predictive testing. Baseline information and information obtained 1 month after the test for 73 respondents were compared with 299 corresponding subjects, approached via the proband (family-mediated approach in our previous study) in these families.

Results: After the contact letter, 51% consented to the study. Of these, 92% approved of the direct contact and 33% had tried to seek information. In 34% of the mutation carriers, neoplasia was identified in the first post-test colonoscopy. Although post-test fear of cancer increased among the mutation carriers and decreased among noncarriers, almost all participants were satisfied with their decision to participate, independently of their test results, parallel to the family-mediated approach.

Conclusion: In this large-scale study, relatives in cancer families were actively contacted to inform them of the condition and genetic counselling. Their attitudes were encouraging, and the psychosocial consequences were similar to the family-mediated approach. Our results suggest the appropriateness of direct contact as an alternative method of contact in cases of life-threatening treatable disease.

Abbreviations: DCA, direct contact approach; FMA, family-mediated approach; HNPCC, hereditary non-polyposis colorectal cancer; STAI, State-Trait Anxiety Inventory

Keywords: HNPCC; hereditary non-polyposis colorectal cancer; Lynch Syndrome; direct contact approach

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• Lucassen, A. (2008). Ethical issues in genetic medicine. InnovAiT 1: 589-595 [Full Text]