Marketing Home Genomics Tests Should Be Undertaken with Caution

More than two-dozen companies have been marketing a range of genetic tests directly to consumers concerned about genetic conditions. These conditions include those related to risks for disease, other genetic traits, and ancestry. Some of these companies have marketed "whole genome scans,” which provide assessments of risk for various health conditions ranging from the type of earwax an individual forms to a risk for disease, including cancer, diabetes, and blindness.

According to Dr. Kenneth Offit, M.D., M.P.H., chief of the Clinical Genetics Service at Memorial Sloan-Kettering Cancer Center (MSKCC; New York, NY, USA), marketing of "at home” genomic tests for disease risk may be premature. "Health professionals are now faced with the prospect of their patients coming to the office, a DNA profile in hand, asking for preventative management tailored to their specific disease risks,” Dr. Offit wrote in the March 19, 2008 special genomics issue of the Journal of the American Medical Association (JAMA).

Dr Offit is concerned about the scientific accuracy of some of these tests, because "they have not yet been validated in forward looking [prospective] clinical studies.” In addition, he wrote, the laboratory accuracy of these tests may vary. A second concern voiced in the commentary is the "direct to consumer” aspect of the marketing of these tests, which excludes guidance from healthcare professionals.

The JAMA article reminds readers that certain state health departments, including New York's, have indicated that genetic testing for disease risk must be requested by a licensed healthcare professional and must be performed in an approved clinical laboratory.

As one of the leaders of the clinical introduction of genetic testing for breast and colon cancer over the past decade, Dr. Offit is in favor of the cautious introduction of new "whole genome” testing, preferably in the setting of ongoing clinical trials. "Those of us in the field of genetic testing for cancer risk proceeded cautiously…The same approach should be followed for genomic testing for other disease risks” he said. "Not doing so runs the risk of dangerously reassuring some and needlessly worrying the already worried [as] well.”


Related Links:
Memorial Sloan-Kettering Cancer Center