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Pre–symptomatic and diagnostic testing raises issues of education, counseling, confidentiality and justice. Such testing may allow clinicians to predict diseases or clarify susceptibility at a time when medicine may not have the ability to prevent or cure the conditions that are identified. Both the public and health care professionals often have a limited grasp of the distinction between prediction and susceptibility or risk. Genetic testing presents unique problems by identifying risk of disease to the patients and for family members who may not be under the care of the clinician providing the test.

Clinicians should discuss with patients the degree to which a particular genetic risk factor correlates with the likelihood of developing disease. Testing should not be undertaken until these issues are fully explored with the patient and the potential consequences of the test, from its impact on the patients well–being to implications for other family members and use by insurers or other societal institutions, are fully understood.

Since the number of trained genetic counselors is small and is unlikely to match the exponential growth in genetic testing, the generalist clinician is increasingly responsible for conveying genetic test results. Only physicians who are familiar with the skills necessary for pretest and post-test education and counseling should engage in genetic testing. All primary care physicians should develop these skills.

As more information becomes available on the genetic risk for certain diseases, physicians must be aware of the need for confidentiality concerning results of genetic tests. Many State governments and the Central governments are promulgating rules and regulations that cover access of employers and insurers to such information. Additional complex ethical problems exist, such as which family member should be informed of the results of genetic tests. Physicians should be sensitive to these ethical problems and testing should not be undertaken until issues are fully discussed and their consequences are well understood.

The potential for stigmatization, insurance and job discrimination require that physicians ensure the confidentiality of data. However, the presence of a genetic risk factor or genetic disease in a family member raises the possibility that other blood relatives are at risk. The physician should seek the affected patient’s consent in encouraging potentially affected family members to seek genetic counseling if it may affect treatment or major life decision.