Originally marketed as a way to discover ethnic and ancestral heritage, direct-to-consumer (DTC) genetic testing kits have expanded into the areas of predictive health and disease susceptibility. The service, offered by companies like 23andMe and AncestryDNA, is increasingly popular. According to a 2019 study by MIT Technology Review, more than 26 million people had taken tests and consented to the inclusion of their DNA in one of four prominent commercial ancestry and genetics databases. If consumer buy-in continues at this rate, boosted by its usual place atop the gift-giving list this holiday season, the databases could hold the DNA of 100 million people by early 2021.
While testing may seem the prudent choice and accumulation of nearly one-third of the nation's genetic makeup promising from a scientific standpoint, the reality isn't so clear-cut. Patients may consent to these tests for fun, but unearth long-buried and deeply painful family secrets. Other patients who are worried about their health, perhaps on the heels of a relative's unexpected and devastating diagnosis, are frantic to discover any and all genetic abnormalities and may be prone to making rash decisions based on flawed or misconstrued data. Still others have grand plans to "biohack" their physiology in an attempt to achieve optimal health and live well past 100.
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Regardless of their reasons, it is likely that physicians will encounter mounting questions from patients, test results in hand, who are worried about their risk factors, expecting treatment, further testing or a referral to a geneticist. Here's how to approach these conversations and what patients deserve to know about DTC genetic testing.
The cost of curiosity
The ease and affordability of commercial genetic testing kits— typically with no physician order, a noninvasive saliva sample and as little as $99 to screen for several hundred thousand single-nucleotide polymorphisms (SNPs)—has piqued consumer interest, prompting many to view the tests as a sensible way to dive deep into their DNA. Although testing provides pages of information, it doesn't always equate to meaningful or actionable takeaways.
Dawn Allain, MS, LGC, a licensed genetic counselor and director of the Genetic Counseling Graduate Program at Ohio State University Wexner Medical Center in Columbus, Ohio, completed a kit herself after seeing a substantial increase in patients requesting consultations to discuss their results. "I [wanted to] understand the complete process and have unfettered access to the [same] services the company provided to individuals," says Allain.
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Her findings were more entertaining than groundbreaking. The test accurately identified her ethnicity and that she was unlikely to have dimples, a cleft chin, and a fear of public speaking—all traits easily verifiable without DNA sampling. Although the testing disclosed that she is a carrier of a common gene variant associated with hereditary hemochromatosis, it wasn't particularly relevant to her own health going forward. "I am only a carrier and not at risk for the disease," says Allain. "Given this is a common condition in the general population, knowing I am a carrier allows for risk assessment for my children and sister." According to the Centers for Disease Control and Prevention (CDC), most people with hereditary hemochromatosis never develop symptoms or complications, so even if someone has the condition identified via testing, modifications in current medical management or lifestyle are not always useful.
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