TrixieStix
Senior Member (Voting Rights)
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.”
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.”
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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.