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Genet Couns. 2009;20(4):317-25.

Genetic testing offered directly after the diagnosis of colorectal cancer: a pilot study on the reactions of patients.

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  • 1Department of Human Genetics, University Nijmegen Medical Centre, The Netherlands.


Genetic testing offered directly after the diagnosis of colorectal cancer: a pilot study on the reactions of patients:


When colorectal cancer is diagnosed before the age of 50 years, then consideration should be given to a hereditary cause. Indications of heredity can be found in tumour tissue with the aid of microsatellite instability (MSI) testing. A positive MSI test means an increased risk of hereditary colorectal cancer, the so-called Lynch syndrome. Until recently, the usual approach was to postpone genetic testing for colorectal cancer until the family history had been studied extensively and information had been made available by a clinical geneticist about the possible consequences. However, it is now possible for MSI testing to be performed on the initiative of the pathologist when the newly diagnosed patient with colorectal cancer is younger than 50 years. This speeds up the procedure considerably. The psychological effects of discussing genetic testing and referring patients during treatment for colorectal cancer are currently unknown. This paper describes an exploratory study on the experience of eight colorectal cancer patients with the new Lynch syndrome detection strategy.


The patients were interviewed at home using a semistructured questionnaire based on the multicausal model of problem analysis and adapted with items for colorectal cancer and genetic testing.


Three coordinating themes were found: (1) 'a changed life after the diagnosis of colorectal cancer', (2) 'warning for the future' and (3) 'communication with family'. It was a considerable challenge for these patients to cope with the physical and psychosocial consequences of colorectal cancer. The majority regarded possible carriership of a hereditary disposition for the Lynch syndrome as useful medico-preventive knowledge for their children. The timing of the confrontation with genetic testing was considered to save time in receiving follow-up advice for their children. However, these patients were apprehensive about having to discuss a hereditary disposition for cancer with their family.


In this early phase, coping with the diagnosis of colorectal cancer and the consequences of treatment mainly determined the reactions of these patients and their physical well-being. This small group of patients was of the opinion that the advantages of genetic testing will weigh-up against the disadvantages.

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