In a provocative opinion published Mondayin STAT , 23andMe CEO Anne Wojcicki argues that household DNA trial customers do n’t need experts to serve them see genetic health jeopardy reports . Wojcicki compares her ship’s company ’s wellness reports , which recite people whether they are at risk of developing sure disease , to at - nursing home maternity psychometric test .
“ Forty years ago , when the first at - home gestation tests became useable , some physicianswarned against their use , ” Wojcicki write . “ They thought char might not be capable to deal such information on their own and claimed that the results might trigger them to make irrational decisions — some go so far as to take it would conduce to suicides . see back , it seems unthinkable that we questioned women ’s ability to access this variety of information . ”
But there is one fairly large problem with that comparison : Unlike gestation tryout , which severalise you simply whether you are fraught or not , a test for genetic endangerment is quite complicated .
Take 23andMe ’s test for BRCA chance variable , which theFDA of late approved . The young test will analyze DNA for three of the more 1,000 recognise BRCA chromosomal mutation that indicate an increased risk for boob and ovarian Cancer — chromosomal mutation that are only common in multitude of Ashkenazi Jewish descent . 23andMe had good reasons for making those variance its launching Crab - peril test ; they are highly well - studied , and women with one of the stochastic variable have a 45 per centum to 85 per centum chance of developing breast cancer by age 70 . But when the test was denote , scientist and doctors spoke out , concerned that the mental testing would give women the “ sham illusion ” that they are not newsboy , when in fact they may have any of one C of known mutation . And if the results suggest a in high spirits risk of cancer , that , too , can be complicated .
“ In our clinic , we generally set aside an time of day for the initial discussion , with extra discussions over sentence . The same is reliable in similar clinics across the country , ” Susan Domchek , the executive conductor of theBasser Center for BRCAat the University of Pennsylvania , compose last monthin STAT . “ This kind of treatment and explanation is n’t something you ’ll get with your 23andMe issue . ”
In other words : It ’s a lot more complex than just whether or not you have a sure genetic strain .
Wojcicki piss the argument that 23andMe ’s trial expands access to risk testing .
“ Historically , approach to this type of testing has been gated by insurance policy company and could n’t be obtain without an ordination from a physician or inherited counsellor , ” she indite . “ make believe this kind of tryout directly usable to consumers is a huge milepost in empowering masses to be in control of their own wellness information . ”
But many scientists and clinician disagree , arguing that information is only endue if people know what to do with it .
“ While I completely back give individuals a pathway for directly obtaining access to their genetic info , it is foolhardy to hazard that the lay populace will be intimate how to suffer and act on that information on their own without access to a genetic advocate or physician , ” Anirban Maitra , the scientific theater director at the Sheikh Ahmed Center for Pancreatic Cancer Research at MD Anderson Cancer Center , evidence Gizmodo .
The result reports that users receive , he said , ca n’t possibly enamour all the nuance of genetic danger . If you have the BRCA variant in 23andMe ’s mental test , for good example , you are at higher risk for pancreatic cancer . At the same time , he said , only 10 percent of those people ever develop pancreatic cancer .
“ How are these subtlety going to be conveyed by a 23andMe paper report without someone credentialed in taking elaborated crime syndicate history , and agreement of other modifiable peril cistron like smoke ? ” Maitra say .
Others expressed skepticism of Wojcicki ’s point of view on Twitter .
https://twitter.com/embed/status/983379781193379840
Stanford bioethicist Hank Greely felt likewise .
“ A very large bulk of women will know what a electropositive or minus gestation mental testing mean . How many of their ( real ) customers will know what a negative test solvent on those three BRCA mutations means ? ” he told Gizmodo . “ Their test seems to me intelligibly safe and efficacious for adult female with a substantial family history of bosom and ovarian cancer where at least one stirred household member has been shown to have one of these three variation . For everyone else , the welfare versus risk is unclear . ”
But Eric Topol , a geneticist at Scripps Research Institute , said he felt Wojcicki ’s comparison was apt . The crucial point here , he severalize Gizmodo , is that consumers are frequently much more savvy than doc give them quotation for .
“ I have some problems with [ 23andMe ’s ] BRCA test , since it ’s only worthwhile if electropositive , but it does carry the right caution and consumers are much overbold than the medical community take a shit them out to be , ” he state . “ That ’s specially true when it comes to genomics , where doctors are behind and consumers , with a vested pursuit in their wellness , can get up quickly . ”
For its part , 23andMe does further consumers to speak to a doc if a troublesome health condition come along in their results . And the need for genetic counselors to help rede such information has led to asmattering of startupshoping to fill up that void .
Wojcicki argues that 23andMe wellness - risk of infection tests will be life - saving for some masses who might not have already known they were at risk for developing venomous health term . She cites ainternal researchand aNature Biotechnology letterto make the case that consumer can handle genetical wellness risk data .
The Nature Biotechnology study discover that in worldwide , multitude acted rationally in response to their results : If there was something concerning , they play along up with a doctor . But direct - to - consumer genetic examination is a vernal field of operations , and that study was the first of it ’s kind . It in the end concludes that to really understand how hoi polloi ’s health behavior changes in reaction to genetic tests , we need a tidy sum more research .
[ STAT ]
Update : This story has been updated with comment from Hank Greely .
23andMeDNA TestingGeneticsHealthScience
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