Scientists have sequenced the entire human genome, and today, you can get your own DNA sequenced for about $200 just by swabbing your cheek with a Q-tip.
But the information we can get from that sequence isn’t as illuminating as you might think.
Anne Wojcicki, cofounder and CEO of the genetics company 23andMe, sat down with astrophysicist and StarTalk Radio host Neil deGrasse Tyson to talk about how the human genome could revolutionize healthcare and biotechnology for our Innovators video series.
People’s biggest misconception about their genes, Wojcicki said, is that we have a lot of information about them and what they all do.
“We’re just scratching the surface of our understanding,” she told Tyson. “The job I feel like I have to my consumers is conveying the fact that we really don’t know a lot yet.”
Geneticists know a lot about certain genes, Wojcicki continued, citing how mutations in the CFTR gene can lead to cystic fibrosis, and how BRCA mutations can lead to breast and ovarian cancers.
Angelina Jolie made the BRCA mutations famous, since she found out she had one — plus a strong family history of cancer — and decided to get a double mastectomy, then have her ovaries and fallopian tubes removed, in order to decrease her cancer risk.
Only about 1% of women carry a BRCA mutation in the general population, though, so the finding is not actually relevant to most women. (It is one of the mutations you can find if you send 23andMe your DNA to test.)
Many other genes, however, still have many, many more secrets to unlock.
Wojcicki said it could be many years before we turn our raw knowledge about the human genome into treatments for diseases that afflict us.
“It has been decades since we discovered things like the cystic fibrosis mutation and there’s now one drug out there today that’s doing a good job treating it,” she told Tyson. “But just because you know the gene and potentially how that manifests into a disease doesn’t mean that we’re actually going to treat it well or we’re going to successfully have a therapy for it.”