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Semin Nephrol. 2010 Mar;30(2):203-14. doi: 10.1016/j.semnephrol.2010.01.011.

Patient responses to genetic information: studies of patients with hereditary cancer syndromes identify issues for use of genetic testing in nephrology practice.

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Social and Behavioral Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.


Advances in the genetic basis of kidney disease may mean that genetic testing is increasingly important in reducing disease morbidity and mortality among patients. However, there is little research examining patient responses to genetic information for Mendelian and common kidney diseases. Existing research on kidney and other hereditary cancer syndromes can inform three major issues relevant to the nephrology context as follows: (1) how patients understand their risk of disease after genetic counseling and testing, (2) their emotional responses to the information, and (3) their uptake of recommended risk-reducing strategies. Prior research suggests that genetic counseling and testing may improve patient understanding of genetics, but patients still might not fully understand the meaning of their results for disease risk. Genetic counseling and testing does not appear to result in long-term negative emotional effects among patients who carry mutations or those who do not. Finally, although genetic counseling and testing may improve adherence to recommended screening strategies, adherence varies substantially across different risk-reduction options. Previous research also suggests that computer-based interventions might be a useful adjunct to genetic counseling approaches. Examining whether and how these prior findings relate to the context of hereditary kidney disease is an important area for future research.

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