Medical tests can be shivery and expensive , so provide someone the selection to non - invasively and more affordably regain out if they are at risk of exposure for malignant neoplastic disease from the quilt of their rest home is an enticing go . But doctors are pointing out that these at - plate kits are n’t always exact , and patient are total in for major surgeries that they do n’t require .
“ The NHS is incredibly annoyed by these solvent because [ in the case of BRCA ] they ’re more often unseasonable than right , ” Professor Anneke Lucassen , a clinical geneticist at Southampton University and professorship of the British Society for Genetic Medicine , told the Guardian , touch on to at - menage kits that test char for mutation for the BRCA genes , which signals their risk for breast and ovarian genus Cancer . “ I ’m not saying ban these tests , ” she said , “ but they demand more regulating . ”
Lucassen assure the Guardian that she had a distaff patient who , because the resultant role of an at - home outfit told her she had a BRCA mutation , had scheduled a double mastectomy . But when the testing was done in an NHS lab , the results derive back negative . “ Can I have the surgery anyway just to be on the safe side ? ” the patient role reportedly asked Lucassen , who allege that the affected role “ was n’t at all reassured by finding this was a false positive , ” even if she did decide to not have the surgical procedure per her medico ’s recommendation .
Image:23andMe
“ I palpate this is the tip of the iceberg , ” Lucassen said , noting that she herself knows about ten case in which individuals took an at - home genetic science test and received positively charged effect for cancer risks that NHS labs plant to be inaccurate .
It ’s not hard to imagine how the inaccuracy of such sensitive info can not only fuck up someone ’s day but their entire lifetime . For those who might not be capable to discern which results are more credible , get a false positive from an at - home kit and a negative from the lab might lead to unnecessary , life - altering surgical procedure in the event that fear or misguidedness outweighs the authority of a aesculapian professional .
And on the impudent side , there ’s a dangerous consequence to soul blindly accepting a negative result from an unreliable at - home outfit as truth . For those who might be at risk for cancer , a false negative might sustain their decision to have a MD run more believable research lab tests .
“ The findings are shockingly bad , ” Caroline Wright , a genomics research worker at Exeter University , told the Guardian . Wright recentlyled an psychoanalysis of a commercial DNA chipand found that it was accurate only 17 percent of the time when examine for BRCA genetic mutation and that it fail to detect factual mutant in over half of 50,000 individual tested . “ At the detail where they ’re this bad , you have to think about not sharing the data point . It can be so damaging to the individual if they witness out this whole erroneous information . ”
closely this exact incident also happened alfresco of a controlled depth psychology — in September of 2017 , genetical testing company Invitae had to retest50,000 blood and spittle samplesafter it missed a inherited colon Cancer the Crab mutation in one of its drug user ’s tryout . Through retesting , the company discover that the procedure were n’t testing for the Lynch syndrome edition , which can signal a higher risk of Aspinwall cancer . Invitae remedied its testing procedure but evidence Gizmodo at the clock time that the misplay go unnoticed for 11 month .
concern over the accuracy of these at - home psychometric test are n’t especially unparalleled to the NHS — Haywood L. Brown , M.D. , president of the American College of Obstetricians and Gynecologists ( ACOG),issued a statementlast year after the U.S. Food and Drug Administration sanction consumer testing for the BRCA sport that name risks for boob and ovarian cancer . Brown save that the brass ’s recommendation is that soul seek out the expertise of an midwifery - gyn or health caution professional .
“ Without clinical guidance , patients may be mistakenly reassure or unnecessarily concerned about cancer risk based on the answer of their DTC test , ” Brown wrote . “ Health care providers may also confront precariousness about accurately interpreting and counseling patient role with questions about both irrefutable and negative tryout results . And both instances have the potential to generate misinformation , confusion , superfluous toll for unneeded exam and fear for patient role and health maintenance providers . ”
But as at - home plate inherited examination becomes more and more temper and mainstream , and as these companies continue to roll out extra services for extra wellness predispositions , doctor may be going up against a new type of misinformation — one that happens to be neatly package and O.K. by the FDA .
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