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Genetic Tests From Companies Do Not Match, 40% Of Results Are False Positives

haidut

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Mar 18, 2013
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As if the fact that genetic testing predicts nothing in regards to medical risks, now this study shows that 40%+ of the "hit" in those tests are actually false positives. What's worse, analysis of the same genetic data by several companies produced widely different assessments of "risk". In some company's analysis a specific gene mutation was noted as "increased risk" while in another one it was considered benign. In a perverted sense of consistency, this actually matches the experience of most people who have sought second opinion on various medical issues - i.e. no two doctors say the same thing and usually have strikingly incompatible recommendations about treatments. I think this is why many private practices have started to demand that patients disclose prior diagnoses, to "facilitate" the evaluation of their case. In reality, it simply allows the new doctor giving second opinion to align his with the previous opinions in order to avoid "rocking the boat".
I feel really bad for Angeline Jolie and all the others maimed by this fraud. Maybe Jolie has enough power to sue into oblivion one of those companies whose testing services led her to amputate both of her breasts...
@Blossom you may like this.

False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care
"...Our analyses indicated that 40% of variants in a variety of genes reported in DTC raw data were false positives. In addition, some variants designated with the “increased risk” classification in DTC raw data or by a third-party interpretation service were classified as benign at Ambry Genetics as well as several other clinical laboratories, and are noted to be common variants in publicly available population frequency databases.
Conclusion: Our results demonstrate the importance of confirming DTC raw data variants in a clinical laboratory that is well versed in both complex variant detection and classification."

Consumer DNA Tests Are Wrong 40 Percent of the Time - Geek.com

"...As people take a more proactive role in their health care, direct-to-consumer (DTC) kits have become increasingly popular. Companies like 23andMe and DNA Direct make it easy to determine bloodlines and diagnose vulnerabilities to inherited diseases like breast cancer and cystic fibrosis. But with great power comes great risk: A new study released by diagnostics company Ambry Genetics highlights the perils of these tests—false positives. “The explosion of direct-to-consumer genetic testing over the last few years has created a ton of buzz, beyond just ancestry, health traits, and wine preferences,” Ambry genetic counselor Stephany Tandy-Connor wrote in a recent blog post."

"...Ambry’s research, published last week in the journal Genetics in Medicine, revealed a 40 percent false-positive rate, highlighting the importance of confirming DTC raw data before making any medical decisions. The latest trend in DIY DNA looks for the BRCA gene, which increases the chance of developing breast and ovarian cancer. 23andMe is FDA-approved to report on three specific alterations in BRCA1 and BRCA2 genes, which together contain roughly 16,000 letters (we’re sticking with the book analogy). Only four of those 16,000, however, are analyzed and reported by direct-to-consumer kits. “While DTC tests are very popular and can be entertaining, it is important for individuals to be aware of what they get with this testing and what they DON’T get,” Tandy-Connor urged."
 

Blossom

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Nov 23, 2013
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Ironically I received an email from 23&me a few weeks ago promoting the breast cancer genetic testing. No thanks. They are really pushing this on people. I'm not sure if it's just to drum up business, promote their agenda, scare people and keep them in a state of feeling helpless or possibly all of the above.
 

biggirlkisss

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Joined
Mar 1, 2013
Messages
922
it's to give people labs they don't really need to make money. Some of the people that own lab companies can't stop spending. I'm sure a doctor would argue that a genetic test for MTHFR Mutation would effect what they do but otherwise what difference does it make if you have a higher risk for a disease? It will never change your course of action.
 

ddjd

Member
Joined
Jul 13, 2014
Messages
4,940
As if the fact that genetic testing predicts nothing in regards to medical risks, now this study shows that 40%+ of the "hit" in those tests are actually false positives. What's worse, analysis of the same genetic data by several companies produced widely different assessments of "risk". In some company's analysis a specific gene mutation was noted as "increased risk" while in another one it was considered benign. In a perverted sense of consistency, this actually matches the experience of most people who have sought second opinion on various medical issues - i.e. no two doctors say the same thing and usually have strikingly incompatible recommendations about treatments. I think this is why many private practices have started to demand that patients disclose prior diagnoses, to "facilitate" the evaluation of their case. In reality, it simply allows the new doctor giving second opinion to align his with the previous opinions in order to avoid "rocking the boat".
I feel really bad for Angeline Jolie and all the others maimed by this fraud. Maybe Jolie has enough power to sue into oblivion one of those companies whose testing services led her to amputate both of her breasts...
@Blossom you may like this.

False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care
"...Our analyses indicated that 40% of variants in a variety of genes reported in DTC raw data were false positives. In addition, some variants designated with the “increased risk” classification in DTC raw data or by a third-party interpretation service were classified as benign at Ambry Genetics as well as several other clinical laboratories, and are noted to be common variants in publicly available population frequency databases.
Conclusion: Our results demonstrate the importance of confirming DTC raw data variants in a clinical laboratory that is well versed in both complex variant detection and classification."

Consumer DNA Tests Are Wrong 40 Percent of the Time - Geek.com

"...As people take a more proactive role in their health care, direct-to-consumer (DTC) kits have become increasingly popular. Companies like 23andMe and DNA Direct make it easy to determine bloodlines and diagnose vulnerabilities to inherited diseases like breast cancer and cystic fibrosis. But with great power comes great risk: A new study released by diagnostics company Ambry Genetics highlights the perils of these tests—false positives. “The explosion of direct-to-consumer genetic testing over the last few years has created a ton of buzz, beyond just ancestry, health traits, and wine preferences,” Ambry genetic counselor Stephany Tandy-Connor wrote in a recent blog post."

"...Ambry’s research, published last week in the journal Genetics in Medicine, revealed a 40 percent false-positive rate, highlighting the importance of confirming DTC raw data before making any medical decisions. The latest trend in DIY DNA looks for the BRCA gene, which increases the chance of developing breast and ovarian cancer. 23andMe is FDA-approved to report on three specific alterations in BRCA1 and BRCA2 genes, which together contain roughly 16,000 letters (we’re sticking with the book analogy). Only four of those 16,000, however, are analyzed and reported by direct-to-consumer kits. “While DTC tests are very popular and can be entertaining, it is important for individuals to be aware of what they get with this testing and what they DON’T get,” Tandy-Connor urged."
My father is half Indian, my mother is British, so I'm 25% Indian.

I did my 23andme test 2 years ago. Results came through 24% from south India, the rest western Europe.

That's completely accurate. There's no way they'd otherwise know my heritage. So I'd say in that regard its completely accurate.

But maybe they are inaccurate with these other health markers
 

haidut

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Joined
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Location
USA / Europe
My father is half Indian, my mother is British, so I'm 25% Indian.

I did my 23andme test 2 years ago. Results came through 24% from south India, the rest western Europe.

That's completely accurate. There's no way they'd otherwise know my heritage. So I'd say in that regard its completely accurate.

But maybe they are inaccurate with these other health markers

Yes, their assessment of ancestry is probably pretty accurate. The article's theme is more on health issues, for vast majority of which there is no solid evidence are caused by genetic mutations or presence/absence of a specific gene. That's why I gave the Angelina Jolie example - she amputated both of her breasts due to a test for BRCA, and the article is saying if she did the tests through another company her risk assessment could have come back as "low" and either one of the companies results have about 40% chance of being false positive. Deciding on a life-changing procedure like that based on shoddy science is absurd. What is even more absurd, this "science" is being promoted/advertised everywhere.
 

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