Over-the-Counter DNA Testing: Wave of the Future or Waste of Money?

May 11, 2010— -- Personalized DNA testing is coming to a Walgreens near you this Friday, thanks to a partnership between the drugstore and Pathway Genomics, a San Diego company that markets at-home genetic testing.

Using this at-home "spit kit", consumers can discover their genetic risk for disorders like Alzheimer's, diabetes, and breast cancer. They can see if they're at risk for passing on genetic disorders such as cystic fibrosis to their children.

All it takes is the Walgreens collection kit (which retails for between $20 and $30), a gob of saliva, and access to the Internet.

But doctors and geneticists fear the worst for this new over-the-counter access to genetic testing.

With no physician to interpret the results of the test, and no FDA regulation of how results are processed or delivered, there is the potential for consumers to misinterpret what their risk really means for their health and their lifestyle.

Though mail-order DNA tests have been available over the Internet since 2007, Pathway Genomic's new campaign brings the personalized genomics market to a neighborhood near you, hopefully lending an air of trust and familiarity to the practice, says vice president of marketing at the company, Chris D'Eon.

"People trust their pharmacy and their pharmacist," he says. "The world is moving towards a preventive health society and working with Walgreens is a huge opportunity to market [personalized genetic screening] to more people, faster."

Considering that Pathway Genomics is just one of many companies offering this service (whether online or over-the-counter), it appears that personalized, doctor-free DNA screening is here to stay.

The question is, can it be done safely?

Customers who purchase Pathway Genomics' "Insight Saliva Collection Kit" will collect their samples at home and return them (a postage-paid box is included) to the company. From there, all other steps are online. Customers need to buy the actual tests on their DNA separately and will receive their reports in about eight weeks via e-mail.

A report on how you will respond to drugs like statins or Tamoxifen runs $79. A pre-pregnancy planning report, which provides information on your baby's risk for genetic disorders, is $179, and a comprehensive test, including your personal risk on a number of diseases, is $249.

The Pitfalls of At-Home DNA Testing

While picking up a DNA kit at your corner drugstore sounds revolutionary, similar DNA "spit kits" have been available online for years.

"Consumers already have this access," says Misha Angrist, assistant professor at Duke University Institute for Genome Sciences and Policy and author of "Here is a Human Being: At the Dawn of Personal Genomics."

Personal genomics companies such as 23andMe and deCODEme offered the first-ever direct-to-consumer genetic tests three years ago, she notes, and Pathway Genomics is a latecomer which is "now trying to make a splash by going the drugstore route."

The only new feature is that the initial kit can be bought in person and the testing options are a little more affordable, but this hasn't stopped doctors from expressing their concern over this new development.

"This is a horrible idea," says Dr. Michael Grodin, professor of bioethics, human rights, family medicine and psychiatry at Boston University. "Genetic testing is a complex, difficult and emotionally laden medical process which requires extensive counseling, contextualization and interpretation."

Lee Vermeulen, director for the Center for Drug Policy at the University of Wisconsin Hospital and Clinics, agrees, calling the test "reckless and inappropriate."

"Regardless of whether they are told they are at low or high risk, the impact on their future behaviors will be affected substantially an inappropriately," he says.

A high-risk result may alarm the consumer needlessly, doctors say, and a low-risk one may provide a false sense of security, lulling consumers to pay less attention to their health habits and skip preventive medical screenings.

Doctors also said genetic factors can only explain a portion of disease risk, and were concerned that customers getting a genetic "clean bill of health" would mistakenly think they were in the clear.

Is Knowing Our DNA TMI?

But do these direct-to-consumer reports necessarily lack the kind of context and counseling that doctors deem necessary?

With the purchase of any of their tests, D'Eon says Pathway Genomics will provide free genetic counseling (via phone) by a team of on-staff genetic counselors. In addition, a physician reviews all lab results, and will call customers if it appears there's a serious genetic issue.

Genetic counseling is strongly recommended for those customers who are trying to conceive, he adds, and says that the company aims to give customers information that they can then take "to the next level, perhaps to your doctor."

Walgreens spokesperson Jim Cohn echoed this recommendation, saying that Walgreens will still recommend that people talk to their doctors about their results.

"The whole concept is that we're helping people make healthier lifestyle decisions," D'Eon says. "We understand that genes are not all the information you need, but they're the only part that's been kind of invisible for many years. Now you know your family history, your diet and exercise, and your genes -- you have the whole picture."

And not all genetic experts were opposed to the idea of a personalized genome over the Internet.

This "panicked response" from doctors is "elitist," Angrist says, and "assumes that the ordinary person is stupid and not entitled to his or her genetic information without a third-party 'expert.'"

Similarly, David Ledbetter, director of the Division of Medical Genetics at Emory University School of Medicine, says direct-to-consumer companies like Pathway Genomics are "providing a substantial service [by] bringing genetic information into broader medical and public discussion."

Though there are definitely some concerns accompanying this practice, there are also "more significant positives" he says.

And the increased presence of personalized genetics is not likely to decline anytime soon, says Vermeulen.

"We are clearly entering a world where genetic information is going to play a role. I firmly believe that there will be good things that will come from that," he says, but cautions that "jumping in too early" is likely to cause problems.

And the lack of FDA regulation does pose a concern. The FDA's Alberto Guiterrez says the company's genetic tests, like at-home pregnancy tests, actually do fall within the administration's jurisdiction. He says Pathway will be putting itself in legal jeopardy by marketing a kit to consumers without FDA approval.

According to D'Eon, however, the company is acting according to regulations.

The rollout will go forward this Friday in most Walgreens locations nationwide, he says.