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The case for providing individual results from population genetic studies should be reconsidered, as such a study of breast cancer in the UK has shown unforeseen difficulties and the potential for undermining informed consent.
Most women had opted at enrolment for feedback of their results if these indicated that family members might have an increased risk of developing cancer. The different methods and standards of the research and clinical tests created difficulties for two of nine women recalled because of a positive result in the research study whose clinical retest proved negative. Understandably, they found this difficult to reconcile, especially as genetic counselling had assumed a positive retest result.
In the study design a positive result led directly to a predictive genetic test. Most women, the authors suspected, had not understood their implicit agreement to this at enrolment.
Women took part in the study to help others and their families. Their motivation was not affected by feedback options, and they were not overly concerned about confidentiality. However, completing family histories made them aware of apparent patterns of cancer within the family.
The women were aged <65; all had had cancer and were part of a study of the prevalence of BRCA1 and 2 genes in cases from the Anglian Breast Cancer Registry and epidemiological and lifestyle factors and family history. Twenty one women were interviewed: 18 had requested individual feedback, nine of whom were recalled.
Epidemiological genetic research is becoming more popular, but patients’ experiences have not been considered so far.