When a test designed to help consumers understand their risk of developing Alzheimer's disease using a sample of their saliva became available about two months ago, Julian Awad was among the first to be tested. Awad is the CEO and co-founder of Smart Genetics (Philadelphia), a direct-to-consumer genetic testing firm that developed Alzheimer's Mirror.

Awad knows all too well how devastating the disease can be to a family. Alzheimer's took his maternal grandfather and, indirectly, his maternal grandmother who died, he says, from "caretaker's stress."

Now, Awad's oldest uncle has the disease and another uncle is beginning to show signs of it. Naturally, his mother became scared a few years ago that she too would develop Alzheimer's, but after researching tests for APOE, a gene linked to late-onset Alzheimer's, Awad found that the test wasn't even available to asymptomatic people.

That's when the idea for Smart Genetics was born, Awad told Diagnostics & Imaging Week, along with the company's Alzheimer's Mirror, a $399 at-home test kit that can be ordered online. After getting the test in the mail, customers send it back with a sample of their salvia to be tested at a CLIA-certified lab. Within about three weeks they are given the results over the phone by a genetic counselor and they receive a lengthy report (about 40 pages) detailing what their genetic and non-genetic risk factors mean and what they might want to do about it.

"I kept thinking, 'What would my mom need?'," Awad said.

Smart Genetics is just one of a number of companies in the growing business of selling at-home test kits designed to test consumers' genetic vulnerability to everything from Alzheimer's to heart disease. Critics of direct-to-consumer genetic testing say the market is largely unregulated and lacks the guarantee that these tests do what the companies that make them claim.

According to a recent policy analysis published in the journal Science in April, no mechanism currently exists to ensure that genetic tests are supported by adequate evidence before they go to market, or that marketing claims are truthful and not misleading. Authors Sara Katsanis, Gail Javitt, and Kathy Hudson of the Genetics and Public Policy Center (Washington) argue that misleading claims about genetic tests may lead healthcare providers and patients to make inappropriate decisions about which tests to take and how to use genetic tests that have potential for profound medical consequences.

The authors recommend "rapid action" to bolster the role of FDA in overseeing certain genetic tests developed in-house by diagnostic laboratories; creation of a mandatory, public accessible registry of information about each available genetic test, including data that support the intended uses of the test; and enhanced enforcement by the Federal Trade Commission to impede false or misleading advertising claims about the benefits of genetic testing.

The authors note that tests for more than 1,500 diseases and conditions are available, yet the efficacy of many of these tests has not been evaluated. With the increasing availability of genetic testing services, and the promise of pharmacogenetics, "it is essential to be certain that the regulatory infrastructure is tailored in a manner beneficial to public health," they note. While most genetic tests must be ordered through a doctor, a growing number also are available directly to consumers over the Internet. These tests are especially troubling, according to the paper, "because there is no healthcare provider to serve as a 'gatekeeper' to prevent inappropriate test ordering or misinterpretation of test results."

Javitt, law policy director at the Genetics and Public Policy Center, told D&IW that FDA does not oversee the vast majority of genetic tests because in-house laboratories develop them. In addition to a lack of oversight, her biggest concerns about this new market are that the tests may not be accurate, and that the results may not be explained properly to consumers.

Awad considers his company to be "socially responsible." He says it is important that customers are not just given the results, but also educated on what the results mean by a board certified genetic counselor.

"It's a risk factor. It's not saying 'you're absolutely going to get Alzheimer's' or 'you're never going to get Alzheimer's'," Awad said.

And even Javitt sees the benefit of some of the genetic tests being offered. There is at least a perception that people want to know what diseases and conditions they may have a genetic precursor for.

"I don't want to throw the baby out with the bathwater," she said, "Each one has to be evaluated on its own merits and each provider would need to be evaluated on their own merits."

Another company cashing in on consumers' genetic concerns is Navigenics (Redwood Shores, California), which launched a service in April called Health Compass designed to give customers information about their chances of developing up to 18 common conditions, including Alzheimer's.

The benefit of knowing such information, the company says, is so that the consumer and their doctors can obtain earlier diagnosis, delay onset or prevent the conditions altogether. The test also screens for conditions such as breast, colon and prostate cancer, heart attack, and rheumatoid arthritis. The initial fee and first year of membership costs $2,500 with an ongoing membership rate of $250 a year, which includes updated medical information.

Like Smart Genetics, Navigenics' service also provides genetic counselors to help customers understand how their individual results can translate into a personalized plan for a healthier life, according to the company.

Elissa Levin, director of the genetic counseling program at Navigenics, told D&IW, that the Health Compass scans through a person's entire genome and, based on scientific publications, identifies a certain marker or sets of markers associated with a disease. Similar to Alzheimer's Mirror, Navigenics' test also can be ordered online, requires a sample of saliva, and is done at a CLIA-certified lab.

Noting that new scientific articles are being published almost weekly identifying genetic markers associated with a disease or condition, Levin said that Navigenics has "an entire team of scientists, geneticists, working to review every single one of those articles" to see if it meets the company's criteria.

In fact, she said, Navigenics is so selective about which markers it screens for that only about 3% of the papers its scientists have read meets the company's criteria.

Navigenics customers also get a personalized report along with information about various diseases based on the genetic screening by logging onto a secure web portal. They also have the option of talking to a genetic counselor on the phone.

"What my profession does is help to translate genetic information to people so they can understand what it means for them, what it means for their family," Levin said.

Levin said the company only offers genetic screening for conditions it defines as "actionable." Parkinson's disease, for example, would not be considered actionable because there is little that can be done about it, she said. But for a disease like colon cancer, "early screening can make a world of difference."