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The use of current genetic testing oversight to select the best test for each patient

November 7, 2010
American Society of Human Genetics
Currently, little is known about how people interpret and react to personalized genomic risk information for common complex conditions. To address this knowledge gap, a group of researchers conducted interviews with individuals who received personalized genetic risk results for seven common health conditions.

In the U.S., most genetic tests are developed by laboratory experts; however, many clinicians and the public remain unaware that genetic tests are not independently evaluated to ensure their efficacy and accuracy. Recently, several national groups -- including the American Society of Human Genetics -- have called for closer scrutiny of genetic testing. For example, the CDC has issued guidelines for laboratories, the FDA is considering reviewing laboratory-developed tests, and the NIH is developing a Genetic Test Registry.

These efforts on the part of federal agencies and professional organizations to develop independent oversight for genetic tests must ensure that that the tests are effective, without stifling innovation or raising the cost of genetic testing. Taking these issues into consideration, given the current lack of independent oversight and federal regulation of clinical and DTC genetic tests, it is important that both healthcare providers and consumers evaluate each test in light of its specific use, its reliability and accuracy, and whether or not the test results will provide useful information.

According to Andrew Faucett, MS, CGC, Director of the Genomics and Public Health Program at Emory University School of Medicine, although healthcare providers evaluate other types of medical tests on a daily basis, many clinicians are not experienced in evaluating genetic tests. However, it is important for healthcare providers to carefully review clinical genetic tests to ensure that their patients are offered tests that will provide the most accurate and appropriate information at a reasonable cost. Faucett suggests that the most important questions for practitioners to ask when evaluating genetic tests are:

  • What is the test analyzing, what is it not analyzing, and what will the information learned from the test be able to tell you?
  • Will the test be able to provide information that can be used to guide patient treatment or help inform clinical care decisions?
  • Is the test looking for a single mutation or all known mutations for a gene?
  • Has the test been implemented and tested in the correct populations for the patient?

For consumers interested in using DTC testing services, Faucett indicates that it is important for them to review tests critically and/or consult with an expert in genetic testing. He suggests that consumers considering DTC genetic testing should ask the following questions beforehand:

  • Will the information that I gain from this genetic test help answer my questions about inherited disease risks, ancestry, etc.?
  • Will the information be useful in helping to improve my health or make better, more informed decisions about my medical care?
  • Is there solid evidence to back up the clinical utility and validity of this particular genetic test?

"Most U.S. laboratories performing genetic testing do an excellent job of analysis -- however, that said, sometimes the test results may not provide the appropriate information to address the questions that the healthcare providers or patients are asking," said Faucett.

"It is important for both healthcare providers ordering clinical genetic tests for their patients and individuals who are considering purchasing direct-to-consumer genetic testing services to evaluate these tests carefully before making decisions," Faucett notes. "Consumers, in particular, must be wary of reading too much into their test results, and they may even want to consult with a certified genetics professional to make sure they're receiving a test that will provide appropriate information that could help them improve their health and assist doctors in making better, more informed medical care decisions."

This research was presented at the American Society of Human Genetics 60th Annual Meeting, which was held November 2-6, 2010, in Washington, D.C.

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American Society of Human Genetics. "The use of current genetic testing oversight to select the best test for each patient." ScienceDaily. ScienceDaily, 7 November 2010. <>.
American Society of Human Genetics. (2010, November 7). The use of current genetic testing oversight to select the best test for each patient. ScienceDaily. Retrieved April 20, 2024 from
American Society of Human Genetics. "The use of current genetic testing oversight to select the best test for each patient." ScienceDaily. (accessed April 20, 2024).

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