Making informed decisions about genetic tests

In response to the increasing availability of genetic tests the American College of Medical Genetics has issued a policy statement on direct-to-consumer genetic testing. It includes five minimum requirements for any testing protocol:

  • A knowledgeable health professional should be involved in the process of ordering and interpreting a genetic test.
  • The consumer should be fully informed regarding what the test can and cannot say about his or her health.
  • The scientific evidence on which a test is based should be clearly stated.
  • The clinical testing laboratory must be accredited by CLIA, the State and/or other applicable accrediting agencies.
  • Privacy concerns must be addressed.

Visit for the complete ACMG Policy Statement.

The information was presented and discussed in an article from ScienceDaily, (2008, April 28), How Can Consumers Make Informed Decisions About Genetic Tests?

Experts in the area were quoted as follows:

"Just because a genetic test exists, it does not mean it is right for everyone or even right for anyone", says Michael S. Watson, PhD, FACMG, executive director of the American College of Medical Genetics. "Medical genetic counseling, testing and treatments offer tremendous possibilities for the future of health care and genetic medicine will continue to play an increasing role in the timely prevention, diagnosis and treatment of genetic disorders but as in any new and changing field, there is a lot of misinformation out there and more research to be done. Consumers need to be cautious and always involve their healthcare provider, and in some cases a medical geneticist or genetic counselor, in their decisions about genetic testing."

Joe Leigh Simpson, MD, FACMG, president of the American College of Medical Genetics says, "Decisions based on genetics are very personal and can be difficult, emotional, costly and life-changing; they are not to be undertaken lightly. The causes of many conditions are complex and multifactorial including a combination of genetic, lifestyle and environmental factors. The potential benefits to mankind are tremendous but there are a great many questions still to be answered and more research to be done to better understand how genetics affects many conditions."

"Geneticists and genetic counselors are the 'professional guides to the human genome' and can help patients make informed decisions about choices related to genetic testing and provide invaluable support and guidance in interpreting test results in light of personal and family history. This is not an area where people should really 'go it alone,'" concluded Dr. Watson

These sound to me like excellent standards. I wonder what will be needed to have them implemented?

Marie Godfrey, PhD

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