All You Need Are Some Genetic Tests

I am all for progress. I am all for technology. But I also a staunch defender of AUTHENTIC MEDICINE. Hence, the name of this blog. I am just so tired of others (the tech world) claiming they can fix everything. An example would be Theranos. Silicon Valley loves the Apple model of moving fast, breaking things and faking it until you make it. That doesn’t work with healthcare. This is an art combined with medical school and residency. This is why so much schooling and training is needed. This is why doctors need keep up to date on new things.

Let’s look at genetic testing. I got my 23andme done and it really didn’t tell me much. It did expose my DNA to anyone who wants to sell it in the future. That sucks. But that was a garden variety swab test, right? The real stuff that high tech is bringing to us is much better, right? Who the f$ck knows?!?

This article in the Wall Street Journal blew me away. It is behind a paywall so I will give you the first few paragraphs:

When she was in her early 30s, Katy Mathes decided to check her cancer risk. A genetic test showed a mutation on a BRCA gene, which significantly raises a person’s lifetime risk of developing hereditary breast or ovarian cancer.

Thirteen people in the family got tested—her mother, her sister, cousins and aunts. Eleven had the mutation. Almost all did their testing with Myriad Genetics Inc., which introduced the first BRCA tests in 1996. 

“I treated my test results like the Bible,” said Ms. Mathes, now 37, an elementary-school art teacher in Colorado. “There was no questioning the report.”

Ms. Mathes, who has one child, decided she would have no more. To reduce her cancer risk, she underwent surgery to remove her ovaries and fallopian tubes. So did her younger sister, their mother and four other relatives. Ms. Mathes and her sister also had double mastectomies.

This year, their mother sat them down at the table of their parents’ winter home in Florida. Two weeks earlier, her genetic counselor had called. The lab was no longer sure the variant is a significant problem.

Oh. My. God.

To be fair, this is a rare situation. I don’t think any scam was involved here. I don’t think it was human era. And BRCA testing has helped so many people so I am not even knocking that. What bothers me is all these companies getting into the genetics game. How well should they be trusted? What will they make people do?

Get our awesome newsletter by signing up here. We don’t give your email out and we don’t spam you

Join 3,552 other subscribers

Douglas Farrago MD

Douglas Farrago MD is a full-time practicing family doc in Forest, Va. He started Forest Direct Primary Care where he takes no insurance and bills patients a monthly fee. He is board certified in the specialty of Family Practice. He is the inventor of a product called the Knee Saver which is currently in the Baseball Hall of Fame. The Knee Saver and its knock-offs are worn by many major league baseball catchers. He is also the inventor of the CryoHelmet used by athletes for head injuries as well as migraine sufferers. Dr. Farrago is the author of four books, two of which are the top two most popular DPC books. From 2001 – 2011, Dr. Farrago was the editor and creator of the Placebo Journal which ran for 10 full years. Described as the Mad Magazine for doctors, he and the Placebo Journal were featured in the Washington Post, US News and World Report, the AP, and the NY Times. Dr. Farrago is also the editor of the blog Authentic Medicine which was born out of concern about where the direction of healthcare is heading and the belief that the wrong people are in charge. This blog has been going daily for more than 15 years Article about Dr. Farrago in Doximity Email Dr. Farrago – [email protected] 

  2 comments for “All You Need Are Some Genetic Tests

  1. Pat
    January 17, 2020 at 1:10 pm

    Great piece. And there are looming, scarier risks.

    Once your genetic info is “out there”, how long before it is used to deny coverage or jack up premiums? How long before insurance companies start offering rebates if you undergo testing? (which will later morph into penalties if you don’t). How soon before CMS starts mandating testing, and penalizing docs based on the percentage of untested in their panel? How long before all third party payers start mandating certain actions and documentation for those with risky genes?

    This is not reflexive paranoia. The very nature of collective care – Big Insurance, Big Government, Big Tech, insidious “population health” – is to diminish the individual. I think the majority of the population will succumb to herd responses, and physicians should resist this fiercely, and try however poor the odds, to educate patients against buying into this frightening path.

  2. R Stuart
    January 15, 2020 at 11:59 am

    What’s the responsibility of the physicians who did the surgery?

    Was the genetic counselor independent, or were they affiliated with the lab?

    Lots of questions.

Comments are closed.