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J Hum Genet. 2009 Apr;54(4):203-8. doi: 10.1038/jhg.2009.11. Epub 2009 Mar 20.

Physicians' opinion for 'new' genetic testing in Japan.

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Department of Medical Genetics, Kitasato University Graduate School of Medical Sciences, Sagamihara, Japan.


Recent advances in studies on human genetics have led to the use of genetic information in various applications. We conducted a survey to know the opinions of healthcare providers in Japan on new genetic testing services, such as direct-to-consumer (DTC) genetic testing. A total of 1124 general practitioners and 294 clinical geneticists replied to our questionnaire. Thirty-eight percent of the general practitioners and 68.4% of the clinical geneticists were aware of DTC genetic testing. Some physicians had gained information on this service through their patients or commercial activities of companies providing such services. General practitioners expected that DTC genetic testing would be convenient, promote preventive medicine, provide personalized services and would enable to maintain confidentiality of information. Clinical geneticists showed greater concern with regard to the reliability of the results, provision of information/counseling and the understanding of results. Awareness of DTC genetic testing enhances general practitioners' positive opinions of it. Although the market for DTC genetic testing in Japan may still be limited, it is possible that general practitioners will play a role in the provision of DTC genetic testing services in the future. On the basis of their knowledge and experience, clinical geneticists should provide information to both healthcare providers and to the public.

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