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Are At-Home Dx Tests Hazardous to Patients Health? Prominent Industry Group Thinks So


Personalized medicine should be a matter of personal choice. But when it comes to genetic testing marketed directly to consumers for at-home use — a rapidly growing segment of the personalized medicine market — it must be an informed choice, according to the American College of Medical Genetics.

The ACMG now recommends that companies offering gene-based diagnostics for the $46 million direct-to-consumer space should not sell their tests without having customers talk to a doctor or genetic counselor. Currently, this step is optional, and while some companies offer this service to customers, many do not.

In a policy statement published in this month’s Genetics in Medicine, the ACMG claims that “the self-ordering of genetic tests by patients over the telephone or the Internet, and their use of genetic ’home testing’ kits, is potentially harmful.“

“Advances in human genetics are occurring so rapidly that even primary-care physicians with a basic background in genetics would have trouble keeping up with developments in … genetic testing,“ the group wrote in its policy statement. “Putting these tests into the hands of the uninformed ... is dangerous.“

Last year, patients spent $46 million in the United States on at-home diagnostic products, according to a survey by market research firm Theta Reports. These products include diagnostics that can detect the presence of hypercholesterolemia and HIV, to gene-based assays that will determine an individual’s risk of developing colorectal cancer or hemochromatosis. Theta expects this market to increase by almost 20 percent by 2009. (There are no numbers on genetic tests alone.)

“At-home diagnostics are easy to use, portable, and provide rapid, easy-to-read results,“ the report said. “Home tests are growing in popularity and scientific advancements in the accuracy of the tests have fueled demand and expansion of the types of tests available.“

This growing popularity has also made some in the human genetics community nervous. “People are going to get information that they don’t know how to interpret or are going to have emotional responses to that information that they had not anticipated,“ warned Caroline Lieber, director of the graduate program of human genetics at Sarah Lawrence College in Bronxville, NY.

As an extreme example, Lieber cited a test for Huntington’s disease that might show that an individual will eventually develop the disease. While most genetic tests don’t provide all-or-nothing answers, “the difference between ’an increased risk’ and ’you’re definitely going to get [the disease]’ is complicated to think about for the average person,“ said Rodney Howell, a founding president of ACMG and a professor of pediatrics at the University of Miami School of Medicine.

According to Howell, this policy statement has no legislative or legal weight, though professional guidelines such as these “are commonly respected.“

In addition, what makes genetic tests different from other kinds of tests is their implications “not only for you, but for your parents, your children, your siblings, and your cousins,“ said Lieber. The final decision to undergo a test should be up to the patient, she said — but that decision should be based on a complete understanding of the meaning behind possible results.

To address these concerns, the ACMG suggested that companies marketing tests directly to patients should agree to “require that consumers have a genetic counselor or undergo an informed consent process with their physician prior to sending samples in,“ Beth Pletcher, an ACMG director and an associate professor of pediatrics at the University of Medicine and Dentistry of New Jersey Medical School, told SNPtech Pharmacogenomics Reporter.

To be sure, many companies do require that doctors be involved. For example, Quest Diagnostics and Myriad Genetics advertise their cystic fibrosis and breast cancer risk tests to consumers on their respective web sites but require doctors to order those tests.

And Kimball Genetics, a Denver-based genetic testing laboratory, provides a range of DNA tests directly to consumers, who are required to talk to an in-house genetic counselor over the phone.

Other companies that offer genetic tests directly to consumers believe customers ought to be able to educate themselves and buy the tests they want. “People are just taking more control of their health, … and when they want to get testing done, they are more and more proactive,“ said Holt Vaughan, president of Healthcheck USA, a Texas-based company that offers several DNA test kits. However, he stressed that the company “always recommend[s] that people have a physician or specialist interpret the tests that we provide for them.“ Most of their customers are referred to them by counselors and physicians, Vaughan said.

Healthcheck, which mainly offers blood testing, has been providing genetic testing services since 2000. The company currently offers DNA test kits for hereditary hemochromatosis, cystic fibrosis, Factor V Leiden, Factor V R2, prothrombin, and a combined Factor V Leiden/prothrombin test. Customers send buccal swabs directly to Healthcheck’s testing lab, Kimball Genetics, and get results back from Healthcheck.

Technically, in order to comply with Texas regulations, these tests are physician-ordered: staff physicians review the incoming orders.

The main advantage to customers is the steep volume-driven discounts Healthcheck is able to offer. “We are usually about 50 percent cheaper … than if a person would order through their physician,“ Vaughan said, thus making the tests accessible to people who could otherwise not afford them.

Healthcheck is not planning to expand its panel of DNA test kits, of which it has sold less than 1,000 since 2000, since it is not the company’s core business.

However, Vaughan said, “I can tell you that direct-to-consumer testing is growing exponentially, and … will definitely be a significant portion of the lab testing market in general,“ and this will likely include genetic testing.



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