Clinical Laboratory - Molecular Diagnostics

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Legal, ethical and social implications of genetic testing

Who will have access to genetic test results and what effect will such information have on persons? Persons may be refused health insurance due to presence of genetic traits. Insurers may require persons wanting to get health insurance to provide the results of any genetic testing. What is the effect of knowing genetic test results on persons who now know they could pass a trait onto offspring? If a woman who is pregnant obtains genetic test results on the unborn child, will that affect her decisions during the pregnancy?

Do health care providers or health care institutions provide genetic testing information to their patient's family members or to employers? Is that information provided if it is incidental to other tests performed? If tests are not performed that are subsequently shown to have potential usefulness for choosing therapies, has the standard of practice been upheld?

These are just a small sample of the many legal, ethical and social implications that must be considered in the context of genetic testing. As a physician, one must weigh these considerations when formulating a decision to order such tests.

More extensive genetic testing with nextgen and whole exome analysis create additional issues. Per Choosing Wisely: "Don't order exome or genome sequencing before obtaining informed consent that includes the possibility of secondary findings."

"The informed consent discussion for exome and genome sequencing should include the possibility of secondary findings unrelated to the indication for testing. In addition, before ordering an exome or genome sequencing test, review with the patient the potential benefits (e.g., confirming a suspected genetic diagnosis), potential harms (e.g., psychosocial concerns), limitations of testing (e.g., a mutation may be missed), implications of the test results for family members, and alternatives to exome or genome sequencing."

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