With Thanksgiving nearly upon us, I’m taking advantage of some pre-food-coma mental clarity to consider what I’m thankful for this year. As Techonomy’s resident genomics champion, I can think of several great examples just in that area. When you’re hoisting that extra serving of sweet potatoes onto your plate, take a moment to be grateful for these recent advances:
- Better Cancer Testing
Genomics is having the biggest impact in a few targeted medical areas, cancer probably most of all. Even a decade ago, industry experts wouldn’t have predicted this remarkable progress. Scientists have demonstrated that cancerous cells can be spotted in simple blood tests long before symptoms show up. If these early demonstrations pan out, we can envision a future where cancer diagnosis routinely occurs at very early stages with excellent prognoses. Separately, I’m thrilled to see that the removal of patent barriers for the BRCA breast cancer genes has led not only to more testing options for people at risk of hereditary cancer, but also to more affordable testing. One company, Color Genomics, offers comprehensive BRCA-related screening for about $250, and no doubt other providers will follow suit.
- Increased Data-Sharing Efforts
We have a long way to go before the countless databases of genetic information around the world can be accessed with a single query, which would drastically increase the value of the immense amount of data collected so far. But I’m reassured by a trend toward data sharing among genomic scientists. One visible effort comes from the Global Alliance for Genomics and Health—a massive consortium of research institutes, genomics and IT companies, and pharma/biotech. It is building APIs (application program interfaces) and establishing frameworks for interoperability of genomic databases.
- Scientists Who Push Boundaries (and Police Themselves Too)
Any field can get a little ho-hum when you’ve been immersed in it long enough. But just when I think genomics may have lost its luster, I hear about scientists testing genomic tools in zero-gravity environments to prepare for missions in outer space. (Seriously.) One scientist is also studying twin astronauts, one on Earth and one in space, to see how these environments affect human biology. This year has also seen tremendous excitement (and anxiety) around genome editing tools that could be used to alter genes in utero, offering amazing potential for preventing disease. Of course that also creates big potential for abuse. For my money, the best thing about this advance has been seeing scientists step up to discuss the ramifications of these experiments, establishing guidelines to keep each other honest and even agreeing to a moratorium on the most ethically challenging of these projects.
- Living Foundries
One of the greatest promises of synthetic biology is a new approach to manufacturing that could eliminate our reliance on fossil fuels, which are currently needed for the production of everything from industrial chemicals to consumer goods. For the increasingly popular concept of living foundries, scientists genetically engineer yeast or other microbes to produce chemicals, fuels, and other high-value components. Together with industrial-grade fermentation, this approach can be used to mass-produce everything from components for therapeutics to chemicals. This year saw the launch of several new products made in living foundries, such as ultra-durable silk. Ultimately, the dream is to use bio-based manufacturing to grow items as complex even as cell phones, as synthetic biologist Drew Endy told attendees at this year’s Techonomy Bio event.
- FDA Approval of the First DTC Genetic Test
Back in 2013, the FDA delivered a crushing blow to the budding consumer genetics industry when it forced 23andMe to stop reporting medical results to customers. This year, the agency approved one test—a carrier status report for Bloom syndrome—letting 23andMe put a toe back in the medical genetics water. While approval of a single test hardly feels like progress, it was actually a noteworthy event and may have provided a successful template to usher other tests through more quickly. As CEO Anne Wojcicki wrote in a letter to customers, “This is also the first time the FDA has granted authorization to market a direct-to-consumer genetic test, and it gives 23andMe a regulatory framework for future submissions.”
It’s a great time for genomics, and I look forward to more advances that will help regular consumers as programs like the federal Precision Medicine Initiative kick off. But we’re also seeing a massive funding crunch that could severely limit scientists’ ability to keep momentum going. Some of the most promising areas of research, such as genome editing, synthetic biology, and identifying genetic risk factors for disease could wither without new financial support. It’ll be interesting to see where we stand next year at this time: I hope we have several new things to be thankful for.