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As my genetic testing kit fell into the unretrievable pit of the mailbox, I wondered if sending away a tube of my saliva was ingenious or very naive.
For around $150, you too can unzip the secrets in your DNA by spitting in a tube, popping it in the mail, and waiting a few weeks for laboratory analysis. Companies like 23andMe, Helix and Color have led this direct-to-consumer DNA revolution, which promises to not only reveal your ancestry, but deliver health information too – from your risk factors for breast cancer to the likelihood of you sneezing when you look at the sun. With a casual interest in biotechnology, I was eager to find out how this process worked. As a young woman, I was slightly terrified by what might be uncovered.
An at-home genetic testing kit is really the tip of the iceberg. Due to technological limitations and cost-benefit considerations for the testing companies, these kits cover the most common blemishes we can find in our genetic code. Yes, you’ll find out if you carry the genetic variant BRCA1, which dramatically increases your risk of breast cancer. You will not, however, find out if you have a rare genetic illness.
This is where things get murky: Once you send away your tube of saliva, companies like 23andMe test for the risk of these more common diseases. But unless you instruct them to destroy your information, they’ll keep it. And perhaps, as new markers for diseases are uncovered, they’ll reanalyse your sample again. Or maybe they’ll use it for research.
If you’re more optimistic, you could view this as where things get interesting: I gave 23andMe permission to use my sample for further scientific research. They anonymise my information so it won’t be traced back to me, and my genome enters a huge database of their users.
By contributing to this research, I'm helping scientists figure out the DNA makeup that may cause illness, but also what leads to people being healthy.
Among us there are superheroes of disease resistance – people who remain healthy despite carrying the genetic mutations that should cause them to have a genetic disease. And these genetic superheroes could be the key to treating others.
In a 2016 study, researchers analysed genetic data from more than 500,000 people in an attempt to identify these healthy carriers of disease causing mutations. The lead researchers were from the Icahn School of Medicine at Mount Sinai Hospital in New York City, though another was from a private company – 23andMe, which provided nearly 400,000 genomes for the study.
Of these hundreds of thousands of genomes, the researchers identified more than 15,000 potentially resilient individuals who carried a genetic mutation associated with 163 Mendelian diseases – which are those diseases caused by a mutation in a single gene, like cystic fibrosis, sickle-cell anemia or Tay-Sachs disease. After some rigorous filtering and manual testing, this was narrowed down to just 13 individuals who should have one of these diseases, but didn’t.
Previous smaller-scale studies have identified rare genetic mutations that provide resilience against HIV infection, reduce the severity of sickle-cell disease and protect from high fat levels and the resulting heart disease.
Many genetic diseases, sadly, are currently untreatable. Increasing our understanding of why certain genetic superheroes remain resilient to disease is the first step in, hopefully, developing new treatments. Initiatives like The Resilience Project and The Human Knockout Project are working to encourage genetic data sharing for good at a global scale.
When I received my testing results from 23andMe, there were no surprises lurking in my DNA, no risk factors to worry about. This information in my genome, however uneventful, will now enter this huge database to show just how uncommon it is to have some of these genetic mutations, and how it’s even more rare to be a genetic superhero.
These superpowers are bespoke: these individuals don’t have Wolverine’s regenerative ability or Thor’s unwieldy strength. They’re regular people, like you and me, who have the power to resist the onset of disease. And that, in itself, is pretty super.
Vanessa Hill is the Aussie creator and host of BrainCraft, a YouTube science series with more than 400,000 subscribers and 25 million views.