Not long ago , decrypt DNA was anexpensive undertakingthat could run into the hundred of thousands of dollars . Now , for $ 199 you could spit into a test tube and happen out about your ancestry , your risk of exposure of developing Alzheimer ’s , and even how potential you are to smell Asparagus officinales in your piss .
But how accurate are those result ?
Anew studypublished by the diagnostics troupe Ambry Genetics in the journal Genetics in Medicine vomit some doubt on the testing methodology of direct - to - consumer genetic examination like those offered by AncestryDNA and 23andMe , though it does n’t call out any specific ship’s company in its paper . Ambry , which serve desoxyribonucleic acid for doctors and inquiry institutions , look at variants that consumer test outcome identified that were associated with a risk of disease , and found that as many as 40 pct of those test result were false positives . In other words , a consumer trial point that a distressing familial variant was present in a person ’s DNA , but when Ambry ’s genetic sequencing lab analyzed samples from the same masses , they find that it was n’t .
Now , before you go discounting everything you ’ve learned from desoxyribonucleic acid examination , there are a few crucial caveat here . The first is that the field author were look at the raw datum from consumer testing companies , not just the selective information that those companies furnish to consumers in all those colorfully illustrated written report .
At present , 23andMe only put up genetic wellness danger reports for a handful of condition , and so as to provide those composition the company had to go through a lengthy FDA approval process to exhibit that the resolution of the examination methodology could be reproduced 99 percent of the prison term by testing methods used in clinical science lab . But if you download your cutting data from 23andMe , there is selective information on a lot more gene than 23andMe credit in its report . And third - party companies likePrometheaseoffer to take that in the buff data and tell you a pile more . you’re able to even take your new data point from company like AncestryDNA that do n’t even offer health analysis , and receive information about your health through a different service .
Ambry Genetics is a clinical examination lab , and often when patient role go to their doctor afraid that they are at peril for something like cancer because of a variant detected in their natural data , doctor will need Ambry to reassert those result .
“ As all these sample were coming , we through noticed a lot of samples wind up being negatively charged , ” Stephany Tandy - Connor , a genetic counselor and pass writer on the cogitation , tell Gizmodo . “ We wondered how extensive that really was . ”
It ’s not that 23andMe is telling consumer that they ’re at risk for genus Cancer when they ’re not , said Tandy - Connor . It ’s that consumer do n’t understand what they are getting when they download their naked as a jaybird datum . To affirm the comportment of a troubling discrepancy , clinical research lab use one method of sequence , and then if something evidence up , they use another to corroborate it . Most consumer tests genotype DNA rather than sequence it , and they typically just useone methodto do so . That method is cheaper and more effective than clinical sequencing , but it ’s also less robust , look at far few letters in a gene to determine whether a variant is present . For the health risks that 23andMe include in its reports , the company has proven that the letters it ’s looking at are just as good at detecting a variant as the more robust test . But for other stochastic variable , there is no such guarantee .
A 23andMe spokesperson told Gizmodo that this is why customers receive a word of advice that their raw data is not needs accurate nor appropriate for aesculapian use before download it .
“ This data has undergone a general timber reassessment ; however , only a subset of marker have been individually corroborate for truth , ” the word of advice says .
Ambry Genetics sequenced information from 49 patients who had visit their doc with concerns about troubling stochastic variable that showed up in the raw data point from dissimilar consumer account . They search at 26 genetic variants associated with dissimilar conditions , many of them genus Cancer . Only 60 percentage of the variants detected in the trial were confirmed by Ambry ’s test .
“ We want this to be educational , for the world and for clinicians that may not be savvy in the genetic science infinite , ” Tandy - Connor allege . “ patient can ask for peeled data point . But the raw data is dirty . You ca n’t bank on it . If something comes up that is disturbing , you need to have it clinically confirm . ”
23andMe , for its part , also encourages consumers to speak to a doctor if a troublesome health shape appears in their results . Tandy - Connor noted that the company plan to do a vainglorious study to get a better sense of the size of the problem .
Even for health conditions that 23andMe does report on , said Tandy - Connor , consumers want to be cognizant that the entropy they ’re getting is not necessarily comprehensive .
She pointed to 23andMe ’s genic health risk account for Parkinson ’s disease . The exam looks at one variant in each of two factor assort with the disease , LRRK2 and GBA . But there are other morbific variants in both of those genes that 23andMe does not appear at , as well as additional factor clinically associate with Parkinson ’s . Tandy - Connor resound the business organization others in the medical community have utter that consumer who take the test are not cognisant of the limitation of the news report .
“ It ’s important to be aware of what you ’re getting , and what you ’re not convey , ” she said . “ None of these companies have comprehensive examination . ”
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