How a simple test might reveal potential risk for major diseases
As kids, my friends and I played a morbid game: “If you could find out how you’ll die, right now, would you want to know?” My answer was no. Maybe yours was different.
This year, that question could graduate from being a hypothetical sleepover quiz to a legitimate medical survey question. Well, the actual inquiry might look more like: “Are you prepared to learn your genetic risk for cancer, cystic fibrosis, and Alzheimer's disease?” But the principal is the same. As early as this year, with a physician’s supervision, an app could reveal your risk for serious illnesses by decoding all of your protein coding genes, and when errors occur in the protein folding process it can result in diseases like Alzheimer's, Parkinson's, Huntington's, cystic fibrosiswhich and many other serious conditions. And test for these, all doctors will need from you is a spit sample and as little as $5 or $10.
A San Francisco–based company called Helix plans to use one of the world’s biggest DNA sequencing labs to power its app store. They will work in partnership with Illumina, a leading builder of DNA sequencing machines, and the database will be housed near the latter company’s San Diego headquarters. Miles of cable will line the ceiling and connect to sequencing machines that will process as many as one million DNA samples per year, according to MIT Technology Review.
This simple illustration shows the difference between healthy and toxic protein construction.
With all that expensive equipment, you might wonder how the Helix team made it so cheap to learn your deepest biological secrets. It’s because they’ve found a way to decrypt all of your 20,000 genes for $100, one-fifth of the cost other companies providing similar services. After collecting a sample from everyone who downloads the DNA app in its online store, Helix can crack the code of each customer’s genes. That way, Helix will own a massive storehouse of genome data that they can then sell to other software developers, and therefore create more DNA apps. If you’re concerned about privacy that is completely justified, but Helix will reportedly allow users to select how their data is used, according to the New York Times.
On one hand, this information could be life saving. A test for the equivalent of laundry money could notify a woman about her risk of breast cancer and prompt her to carry out self-administered screenings at home. It could also help prospective parents make better informed decisions about whether or not to conceive children based on high risk factors for conditions like sickle cell disease.
But on the lighter side, it could also be fun. You could determine, with scientific proof, that you do in fact have a sweet tooth that needs to be satisfied. (“I’m eating this cupcake and you can’t stop me because genetics.”) Similar to other DNA sample tests like National Geographic’s pricier Genographic Project, you could also learn your ancestors’ migration paths and the percentages of your regional heritage.
When certain types of proteins fold improperly and aggregate together it can result in very specific diseases.
And since handing someone their genetic crystal ball is an incredibly personal and serious act, Helix is also taking measures to prevent faulty results. A woman mistakenly opting for a double-mastectomy after being inaccurately told she’s at high risk for breast cancer is a terrible possible outcome, so Helix plans to work closely with the FDA to get approval for its more rigorous tests. This stands in contrast to the genome sequencing service 23andme, which was asked by the FDA stop selling its health assessments in 2013 due to the lack of federal proper clearance.
But really, the principle of that childhood game still holds. Would you want to know about future health risks if it affected the way you lived today? For some lunch money and a little saliva, you’ll soon have access to all the data you can handle – and maybe some you don’t want to.