Just before we kick off another year of blogging, it’s worth taking a moment to look back and single out what for us were some of the big stories, breakthroughs or findings in genetics from last year. Here is our top five.
Diversity — For a very long time, medical research in general has focused largely on people of European ancestry and that is even more apparent with genetic research. Less than five percent of genetic research on disease includes people of African ancestry. In fact most genetic research is focused on people of European ancestry, meaning that we risk missing key scientific discoveries that could benefit people of all ancestries. Last year 23andMe launched two separate efforts meant to help alleviate some of these disparities. Both are NIH-funded studies but they approach the diversity issue in different ways. Kasia Bryc, a senior scientist and population geneticist at 23andMe, is leading one of the studies that will use admixture mapping to identify genetic variants associated with disease in under-represented populations. This leverages 23andMe’s existing database, which includes a large number of African Americans and Latinos who have mixed ancestry. The second study is the African American African American Sequencing Project that is being lead by Adam Auton, a 23andMe senior scientist and statistical geneticist. This project will help address health research disparities by creating a genetic resource for health research in African Americans that could improve the understanding of diseases in minority populations.
Gene Editing, Again – This is the third year in a row we’ve singled out the innovative technique for specific bits of DNA, called CRISPR. It is a simple and quick way of snipping out deleterious sections of DNA and stitching in “corrected” sections. This offers huge potential for treating diseases or other deleterious conditions — and has already been used to treat sickle cell anemia and lung cancer. But CRISP also presents some serious ethical issues about tampering with human DNA, and there are other issues. For instance, researchers working on treating HIV found that the virus could quickly develop mutations that resist editing. The findings by researchers at McGill University in Montreal were published back in April, and illustrate the complexity of creating gene therapies with CRISPR. But even with this kind of hurdle, the promise of this technology makes it likely we’ll be hearing more about CRISPR this year.
Not Depressing — Past efforts to study genetics of major depressive disorder all came up short until last year. It turns out that size matters when it comes to the study of depression. Past efforts were limited by numbers, but a “mega analysis” of data from more than 400,000 people — both cases and controls — found 17 genetic variants in 15 different genetic regions associated with major depressive disorder. The study, by scientists from Pfizer, Massachusetts General Hospital and 23andMe is not just important for identifying genes associated with depression and schizophrenia, but it also illustrates the power of big data. While identifying genes associated with the condition is useful to better understand the disease and its causes, and gives researchers studying the biology of the disease clearer paths to follow, but much work is still needed.
Love and Science — Our year started with the moving story of the married couple, Eric Minikel and Sonia Vallabh, who together switched careers to become medical researchers and focus all their energy on the study and treatment for prion disease. It is a rare but devastating and fatal genetic condition that hits the nervous system, impairs brain function, and causes other neurodegenerative symptoms. It typically manifests itself around the age of 50. Sonia’s mother died of the disease at 52, and Sonia inherited the genetic mutation that puts her at a very high risk for the disease. The couple formed a non-profit focused on the disease. They’ve incorporated data from 23andMe in their work and their story has been featured in both the Atlantic and the New Yorker.
The Election — The ascendance of Trump to the U.S. presidency leaves open a lot of questions about the future of government funded research, health regulation in the US, and even the role of science in setting policy. Also unknown is whether the new administration will keep Francis Collins, as director of the NIH. At the helm of the agency since 2009, Collins has helped push the Precision Medicine Initiative, now called “All of Us,” and has deftly navigated the political waters of Washington, but some have publicly pushed for his replacement. Whether he stays or goes, it’s still unknown what if any science initiatives the new administration will champion.