Are Patients Ready for Direct-to-Consumer Genetic Testing? – Dr. Carolyn Dean MD ND

Are Patients Ready for Direct-to-Consumer Genetic Testing?

April 29, 2018

It’s a little late to ask this question considering that DTC genetic testing has been available to the public since 2007.

The 15-year, 3 billion dollar Human Genome Project ended in 2003 and didn’t turn out as expected. Basically, scientists are not able to pluck out offending genes that cause disease. Diseases are not caused by single genes but share multiple genes and epigenetic triggers. In order to recoup the billions spent on the project, the technology was marketed to the public sector. Individuals have been using DTC genetic testing since 2007 for ancestral searches. They had to wait until Oct, 2015 for the FDA to give their approval for genetic health risk testing.

I’ve commented before that I don’t think it’s healthy or wise to offer this type of testing to an unsuspecting and unprepared public, and allopathic medicine agrees.

In a recent Medscape article, the author states that “Knowing whether someone has a gene related to a disease is a long way from a diagnosis.”

What do you learn from genetic testing? The 23andMe says their health risk reports focus on specific genetic variants related to 10 diseases or conditions. However, most of these conditions have no known treatment or cure. Who would want to know 10, 20 or 30 years before the fact that they have a fatal condition over which they have no control? Not me!

The testing includes:

     Alpha-1 antitrypsin deficiency (a disorder that could cause lung disease and liver disease)

     Late-onset Alzheimer’s disease

     Celiac disease (a digestive disorder in which people can’t eat gluten)

     Early-onset primary dystonia (a movement disorder that involves issues such as muscle contractions and tremors)

     Factor XI deficiency (a blood-clotting disorder)

     Gaucher disease type 1 (an organ and tissue disorder)

     Glucose-6-phosphate dehydrogenase deficiency (a red blood cell condition)

     Hereditary hemochromatosis (an iron overload disorder)

     Hereditary thrombophilia (a blood clot disorder)

     Parkinson’s disease

23andMe also gives you the raw data on MTHFR gene variations, which can be interpreted elsewhere. They also recently began to offer the BRCA1 and 2 breast cancer and ovarian cancer risk genes.

According to Medscape this medical Pandora’s Box depends on what the buyer does with that information. “Will knowing your cells carry a gene connected to a deadly disease prompt healthy changes, or unnecessary fear? Will a clean report lull people into a false sense of security, leading them to skip steps that might prevent it?” I’d also ask whether an employer is going to have access to your tests and fire or not hire you based on the results? Or will you be refused insurance coverage?

Because, we in the West, just adopt new technologies without asking about the disservices, there is no stopping this testing.

The fact is that “Genetic testing is already a billion-dollar industry, and some research estimates that it could grow to $10 billion in the next decade. It’s already spawned a new health care specialty: genetic counselors, who help guide people through the process and what their results may mean – or don’t.”

From the horror stories told to us by our customers, I’m sure most genetic counselors can’t tell you how to prevent all those genetic diseases but spend your time and money telling you that you don’t have to worry because the test is probably not accurate! After all ”A new study found that 40% of direct-to-consumer genetic tests had false positives.” Lord Sufferin’ Cats, just give me my money back and erase my memory of all those fake mutations you just planted in my brain – which are enough to give me the disease out of fear!

There is no standardization of genetic counseling courses. If the counselors are medically trained, they aren’t going to know about the epigenetic action of nutrients to help prevent gene expression. They will just follow the lead of a Hollywood actress and recommend, as does this article, that the client “consider preventive surgery to remove all or part of her breasts” if they test positive for the breast cancer gene.

It’s impossible for anyone to fathom the complexity of genetic testing. For example, the BRCA 1 and 2 genes have “more than 1,000 mutations.” Researchers say that “We’re still learning what the mutations are. We’re still learning what the mutations mean, and we’re still learning what impact particular mutations may have for a particular individual. Just because it’s there doesn’t mean it’s going to happen.”

The Medscape article reported that “Art Caplan, head of medical ethics at New York University’s medical school, says he was surprised the FDA approved the 23andMe application to test for breast cancer mutations, given the limits of the testing.” Caplan was concerned that “Since most breast cancers aren’t caused by the mutations 23andMe can identify, ‘It seems to me a risk of wasting money on people who aren’t in the risk population.’” What, Mr. head of medical ethics, you’re concerned about the wasted money – what about the mental health of the consumer of these erroneous tests!

Here’s how 23andMe is handling the stress of this testing. They say that if a test shows a positive result for a gene mutation they send an e-mail acknowledging that the results “can be upsetting or cause anxiety.” The email – not an actual person – urges you to discuss the results with a doctor or a genetic counselor for support. The notification also suggests thinking about whether the news should be shared with relatives, “since they may also have the risk variant.” And thus they become a customer of 23andMe.

According to the Medscape article there are now dozens and dozens of companies that do genetic testing but unlike 23andMe, which is licensed direct to consumer, they require someone getting tested to sit down with a doctor or a genetic counselor to discuss their family history and options first, and can test for more mutations. They feel this gives better support to the patient/client. However, I think both sides are wrong and no one is thinking of the burden on the patient/client many of whom are thrown into depression with the news of their gene mutations.

Some people may do testing to find out the worst and use that information to help them make better lifestyle choices. I feel that I am already doing all the positive things to stay healthy: exercise, good sleep, laughter, Completement Formulas, Keto diet and intermittent fasting. Since I’m doing all these good things anyway, I don’t need to put a gun to my head!

Carolyn Dean MD ND

The Doctor of the Future®

RESOURCES: Along the borders and in the links of my web site you can find my books, writings, and my call-in radio show. Email your questions to: questions@drcarolyndeanlive.com.

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