Cheap DNA Sequencing: What's in it for You?

By Amanda Willis

Your DNA can reveal more about your body — and what the future has in store for it — than a stethoscope and a tongue depressor ever could.

Thanks to the Human Genome Project, which identified all the genes in the human DNA, scientists better understand how our biological makeup affects our health. This milestone kick-started the commercialization of DNA sequencing, which refers to determining the exact order of the bases in a strand of DNA. Five years from now, the process may be as simple as picking up a kit at your local pharmacy, similar to a pregnancy test.

"It's just a question of time," says Daniel MacArthur, a genomics researcher at Massachusetts General Hospital. "Right now it's just way too expensive. But that will change fast."

When commercialization eventually drives down the price, DNA sequencing could even be a project your kids do in science class, MacArthur suggests.

DNA sequencing may sound like a cool plot line from a sci-fi thriller, but the question really is, what's in it for you?

Your DNA, in Recreational Mode

One of the most common uses for DNA sequencing today is to determine predispositions for genetic diseases or complications. But there are also more "recreational" aspects of genomics.

Genetic testing can be used to track down distant members of your family tree by looking for shared segments of DNA. Additionally, you can learn more about your ancestry by looking for genetic clues to where your deeper ancestors lived. For instance, you may be able to determine whether you have any detectable Native American ancestry.

23andMe, a personal genome service, sells a DNA Spit Kit — users simply spit in a tube and send it to a lab for testing. For $299, researchers will analyze your DNA for information about your ancestry and health. From there, you can access a database of more than 200 health and trait reports or sift through the world's largest DNA database to find connections you never knew.

When it comes to your health, DNA sequencing can tell you things beyond disease susceptibility — like whether you sneeze in sunlight, or whether you can really smell asparagus in your urine. Is that information really helpful in the long run? Maybe not. Nonetheless, we're continually fascinated by our human ticks.

"For some people, these non-medical aspects end up proving much more interesting than their disease predictions," says MacArthur. "But this isn't just for fun — for people who already have serious diseases, DNA sequencing can profoundly change their diagnosis and treatment."

A Cure for Rare Diseases? Thanks, Crowdfunding

Four-year-old Maya suffers from global developmental delays. Despite visits to several physicians, her condition remained a mystery for years. Doctors knew it was genetic, but no tests turned up a concrete explanation.

Last spring, Maya connected with Rare Genomics Institute(RGI), a service that helps families design research studies and raises money online via a Kickstarter-like crowdfunding platform to pay for DNA sequencing for children with rare genetic disorders.

Maya's fundraising took just six hours.

One year and a lengthy research process later, researchers called RGI with a potential breakthrough: They found a new gene error.

"Maya is the first person in history with an error in this gene," says RGI founder Jimmy Lin. "So, you could say we may have identified a new disease through this ... and we're now able to take next steps."

DNA sequencing has already revolutionized the way we diagnose and treat diseases like cancer. However, it's especially useful for rare diseases that may hinge on just a few individuals.

But while the process could potentially open the door to a cure for a rare disease, this is where DNA sequencing falls into a financial gap — there are no advocacy groups for unknown diseases. Additionally, health insurance usually won't pick up the tab for this type of service.

"Researchers don't tend to study individual people," says Lin, who started RGI to fill that void into which children with rare diseases fall. "Often, these children present anatomical problems, like displaced hearts," Lin explains. "Or delays in development, like talking."

Although the company is just a little older than one year, it already has about 20 cases on deck. On average, each case costs $7,500, all of which is raised through crowdfunding.

Can Insurance Companies Use Your DNA Against You?

DNA sequencing doesn't come without its share of fine print.

"There are no fundamental barriers to cheap, widely available DNA sequencing," MacArthur says. "It's just a question of how society will adapt to that technology. That, I think, is much less clear. People tend to get panicky about invasion of genetic privacy."

It's hard to say how America's healthcare system will be structured 10 years from now. But if it's similar to how it functions today, skyrocketing premiums could be a real issue when it comes to standardizing genetic testing.

Insurance companies may be able to use your genetic information when assessing certain parts of your coverage. In 2008, Congress passed a law that should, theoretically, protect us from such manhandling. The Genetic Information Nondiscrimination Act (GINA) prohibits insurance companies from using genetic information to determine coverage costs.

But there are a lot of holes. For example, GINA doesn't cover life insurance or long-term care. In cases like these, genetic information could be used to calculate costs or type of coverage available to that individual.

"The key is that there has to be a safety net for people with these serious genetic diseases," says MacArthur.

On the other hand, DNA sequencing could swing in a positive direction — for a healthy person, that is. A genetics report free of disease risk could mean coverage cost cuts, similar to how an auto insurance company might give a discount to a safe driver.

Expect DNA sequencing to be a routine procedure in hospitals in 5 to 10 years. In the short term, this process will be used to test and diagnose symptoms that the patient is already experiencing. But if researchers meet their goals, DNA sequencing may be as routine as a checkup in your family doctor's office.