Wall Street Journal: The Unfulfilled Promise of DNA Testing

The article weaves the story of a young sick girl thru it by discussing how genetic testing has resulted in her diagnosis changing over and over and over as the science changes constantly. And how this is happening to other patients. Doctors will run genetic testing and a certain gene will be blamed and thought to be the cause and not long after scientists will decide that gene wasn't the issue or was never a problem after all, resulting in a constantly changing diagnosis.

https://www.wsj.com/articles/dna-te...5e9575da524258a786ab4293a8896e&mod=djmc_pktff

a few excerpts....

"We are in a period of drastic evolution in our field,” said Heidi Rehm, chief genomics officer at Massachusetts General Hospital in Boston, who is involved in DNA interpretation efforts, including one to cull gene associations no longer considered accurate."

"Dr. Ingles points to the case of a family that underwent testing for a gene associated with a heart disorder after a young son’s sudden cardiac death. A brother was found to have a variant. He was implanted with a defibrillator and received two shocks. But doctors later determined the variant wasn’t linked to the disorder after all. The case, reported in medical literature, haunted her, said Dr. Ingles, who wasn’t personally involved. “We have to be sure. There is so much potential for harm if we get it wrong.”

 

Now that DNA sequencing can be done easily and cheaply they are finding that it is massively more complicated than they expected. Basic science is like that and we have to go through the learning stages to get anywhere but things can be overhyped of course and we know that some doctors are just out to profit from things.

Though in this case, if the brother received 2 shocks from the implant his heart rate must have gone funny. It looks like he was saved by the mistake, not harmed.

 

Nah, those devices tend to go off without a reason (or the reason might be a certain posture like moving your arms above your head). A close friend of mine who had a pacer/defibrillator received shocks in the shower when washing his hair. Quite painful!

If there would be a medical reason for the defi to go off (like ventricular fibrillation), he would have been unconscious.

Re: the article; it shows how much medical uncertainty is another burden for parents and patients.

 

https://www.newsweek.com/clifford-stoll-why-web-wont-be-nirvana-185306

Some people are just bad at predicting the future. The technology is still too immature to be disappointed at its success.

 

IMO at this point genetic testing is more useful to the company you are paying (with some exceptions) than it is for the person who gets the test. Also, there are issues around privacy. No matter what the fine print says, making money is the business of any company and they will be tempted. If a company is bought by a bigger company I don't think the obligation transfers.

Something to consider. Eventually the law will catch up with this and other issues but until then it's more like the wild west.

 

The one good point to genetic testing is for people who are adopted. My brother who was adopted as a baby, is meeting his birth brothers and sister tomorrow for the first time as a result of his youngest daughter doing DNA testing last summer. It was a birth cousin who lives close by who also had his DNA testing done that brought this all about. Otherwise my brother would never have known his birth family.

 

The "2 shocks" refers to the shocks that must be done during the surgery when the device is implanted and again after surgery before you are released from the hospital.

"During the procedure
Once the ICD is in place, your doctor will test it and program it for your heart rhythm problem. Testing the ICD might require speeding up your heart and then shocking it back into normal rhythm.

After the procedure
You'll stay in the hospital one or two days, and the ICD might be tested once more before you're discharged."

 

Right, misread that, oops.