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American College of Medical Genetics makes genetic testing recommendations in new policy statement

Consumers are increasingly being marketed a broad range of genetic tests. Paternity tests at the drugstore.Personal genome mappingGene tests to predict future baldness. With ongoing genetic discoveries and technology improvements, more genetic tests are available than ever before and along with greater availability has come the expansion of direct-to-consumer (DTC) testing. How can consumers make informed decisions about genetic tests" To help address some of the important questions raised about DTC genetic testing, the American College of Medical Genetics has developed the ACMG 2008 Policy Statement on Direct-to-Consumer Genetic Testing.

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.

The ACMG 2008 Policy Statement on Direct-to-Consumer Genetic Testing includes 5 minimum requirements for any genetic testing protocol. Visit for the complete ACMG Policy Statement.

The five recommendations include:

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

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

Contact: Kathy Beal, MBA
American College of Medical Genetics

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