Until recently, if you wanted to know if you were at a higher genetic risk for Alzheimer’s and Parkinson’s disease, you had to consult an expert for such testing. But now you can find out from a do-it-yourself test at home.

 The Food and Drug Administration (FDA) recently ruled that 23andMe, a Californian company that pioneered the use of direct-to-consumer home genetics testing, could offer a package of 10 health tests directly to the public.

The company, which already offers ancestry testing, had tried for several years to get approval from federal health regulators for such at-home genetic testing.

According to Stacey Detweiler, medical affairs associate for 23andMe, the information that such tests provide empowers consumers. 

“Our testing is another way that can lead to a person gaining a better understanding of their health,” she says.

But such tests have raised concerns among some health experts because such testing is done without the benefit of a counselor, doctor, or specialist who may be able to answer difficult questions such test results can raise.

Erica Ramos, president-elect of the National Society of Genetic Counselors, contends that learning the results – in the absence of input from a health professional – can potentially be problematic.

“People need to think about if they want to know if they are at high risk for Alzheimer’s or Parkinson’s, or whether they might have a child with cystic fibrosis,” she says.

“For some people, this may be a simple matter, but not for others, particularly if they are uncertain or have additional questions.”

Previously, 23andMe was restricted to ancestry testing, which examines a person’s DNA to provide clues about where a person’s ancestors might have come from.

The company had tried for years to offer direct-to-consumer genetic health tests but the FDA had rejected those requests.

But now in clearing the way, the regulators ruled the company had proven the accuracy of the genetic tests. Even so, the FDA stipulated that the company must inform consumers that the test results don’t necessarily mean they will develop the disease.

“It is important that people understand that genetic risk is just one piece of the bigger puzzle,” says Dr. Jeffrey Shuren, director of the FDA’s Center for Devices and Radiological Health, in announcing the approval.

The 23andMe tests work by isolating DNA from a saliva sample, which is then tested for more than 500,000 genetic variants. The presence or absence of some of these variants is associated with an increased risk for developing the10 diseases or conditions.

The package of tests, which costs $199, evaluates a person’s genetic risk for the following:

• Parkinson’s disease, a nervous system disorder impacting movement;
• Late-onset Alzheimer’s disease, a progressive brain disorder that destroys memory and thinking skills;
• Celiac disease, a disorder resulting in the inability to digest gluten;
• Alpha-1 antitrypsin deficiency, a disorder that raises the risk of lung and liver disease;
• Early-onset primary dystonia, a movement disorder involving involuntary muscle contractions and other uncontrolled movements;
• Factor XI deficiency, a blood clotting disorder;
• Gaucher disease type 1, an organ and tissue disorder;
• Glucose-6-Phosphate Dehydrogenase deficiency, also known as G6PD, a red blood cell condition;
• Hereditary hemochromatosis, an iron overload disorder; and
• Hereditary thrombophilia, a blood clot disorder.

Since the prospect of home genetic testing was raised several years ago, there’s been an ongoing debate over whether they are appropriate for Alzheimer’s disease and other conditions, for which there is no cure.

But a study published last year published in the Annals of Internal Medicine found that giving people more risk information actually decreases their mental distress and encouraged healthy lifestyle choices that may help combat the impact of such disorders as Alzheimer’s.

“This isn’t information that everyone will want,” Detweiler agrees.  “[But] getting this information to your provider, and starting a conversation early could facilitate an earlier diagnosis.”

“There’s also the potential to make retirement decisions, financial decisions, and having this information could provide motivation to participate in clinical research or also join a group trying to work towards a cure.”

But Ramos is concerned that people, just by opting to take a genetic test, may not realize they could potentially jeopardize their health insurance or employment.

Federal laws currently protect consumers from being denied health insurance based on genetic tests, but currently there’s no protection in place for long-term care, disability, and life insurance, she notes.

 It’s also possible that Congress could act to remove existing Obamacare protections requiring insurers to cover people with pre-existing conditions without a surcharge, as part of the ongoing national healthcare-reform debate.

“If you’re considering genetic testing and you don’t know how it will affect your insurance, we recommend that you think about it, and consider what all the implications might be,” Ramos says.

23andMe is not the only company offering home genetic testing, but it is the only one federally approved to evaluate risk for specific diseases without the participation of a physician or counselor.

Helix offers home genetic testing, but does so through a network of healthcare systems, so patients can use it as part of their overall medical care.

Pathway Genomics offers direct-to-consumer testing which delivers information on how a person’s genetics predicts how their bodies will react to exercise, diet, and also to various types of medications, including those for mental health, pain and cardiac medications.