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?

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