How Will Rising Popularity of At-Home Genetic Testing Affect Traditional Health Care

Posted on  May 7, 2018


From a recent episode of the sitcom “Life in Pieces” to news reports on the catching of a serial killer in California, genetic testing has certainly been in the spotlight lately.

In fact, recently reported that its AncestryDNA network now has over 4 million members, which would be the second largest city in the United States based on population just after New York City.

And is not alone when it comes to successful genetic testing companies, there are also: 23andme, MyHeritageDNA, LivingDNA, VitaGene and GPS Origins, just to name a few.

Some of these companies not only help determine where a person’s forebears come from but can also identify if they are carrying genes that have been linked to serious diseases like cancer, Alzheimer’s and diabetes.

In other words, if you (as a physician) haven’t already had a patient come to you with a genetic testing report it’s probably only a matter of time before you do.

For example, the FDA in April of 2017 restored authorization to 23andme to provide information on genetic disease markers based on evidence from peer-reviewed scientific studies directly linking those diseases with the genetic mutations the company tests for.

In fact, 23andme CEO and co-founder Anne Wojcicki recently told Newsweek that she wants her company to “usher in an era where … the consumer is more of a partner in health care and they have this ability to take charge in preventing a condition.”

Wojcicki went on to tell the news magazine that she sees “her company moving into an advocacy role that works in conjunction with patients and various health care providers after private genetic tests reveal people’s inner makeup.”

However in that same article: Kathryn Phillips, a professor at the University of California at San Francisco’s School of Pharmacy, said “We have found … that patients and consumers … don’t really understand genetic tests.”

Phillips said there could be situations where consumers find themselves at risk for various diseases and rush to the doctor even though they have no reason to be alarmed. “There could be downstream additional costs based on people wanting a second opinion, or additional testing based on the results,” she said.

Still, it seems inevitable that doctors are going to have to deal with genetic reports more and more in their practices – even if they would rather not.

As reported on “in an email survey of 1,609 US physicians (specialists from cardiology to neurology, as well as family physicians) conducted for STAT by Sermo, a social network site with 1.8 million health care professional members, 27 percent said they had recommended that their patients get their genome sequenced, while 73 percent had not.” goes on to say that one possible explanation for the lukewarm response is that when asked “which they think is more informative for diagnosing and treating patients, 74 percent of doctors chose a family medical history and 26 percent chose genome sequencing.”

Whenever genetic testing is discussed privacy concerns are also typically raised. These concerns have come under more intense scrutiny after the recent apprehension of the “Golden State Killer.”

In that case, law enforcement officials reportedly used data from GEDMatch, a genealogy research site where users upload genealogical and genetic information, to help identify the man suspected of being the notorious Golden State Killer.

That site, which provides tools for people to conduct their own searches against uploaded data, said in a statement that it wasn’t aware of the police investigation and told users they could email to ask that existing data be deleted if they were concerned about privacy.

But it appears that even privacy concerns are not slowing the growth of genetic testing.

In fact, the U.S. government has now opened nationwide enrollment for an ambitious experiment: If they can build a large enough database comparing the genetics, lifestyles and environments of people from all walks of life, researchers hope to learn why some escape illness and others don’t, and better customize ways to prevent and treat disease.

“A national adventure that is going to transform medical care,” is how Dr. Francis Collins, director of the National Institutes of Health, describes his agency’s All of Us Research Program. Congress has authorized $1.45 billion over 10 years for the project.

So as the popularity of genetic testing continues to rise in the future, doctors are ultimately going to have to decide for themselves how they will handle these reports.

In that survey cited on, results showed that “despite reservations about their competence to do so, 63 percent of doctors surveyed said that if a patient brought in the results of a genomic test, they would help interpret the data, while 37 percent said they would not.”

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