17 December 2015
In 2015, genomics captured the mainstream media spotlight and the attention of people around the world. With the flurry of news coverage comes a growing global recognition that next-generation sequencing is moving fast. As futurist Peter Diamandis put it, “we are at the knee of the curve of human genome sequencing.”
It has been eight short years since NGS emerged in 2007, and now an entire human genome can be sequenced in less than a day for around $1,000. The potential impact is staggering. Out of the 10 breakthrough technologies for 2015 in the MIT Technology Review, three are powered by NGS: simple blood tests to catch cancer early, advanced genetic tools to boost crop yields and feed billions of people, and a global network of genomic data to improve medical care.
The past year has been filled with advances in genomics. As 2015 comes to a close, here are the highlights that grabbed headlines and mindshare this year.
Genomics and Sequencing Go Mainstream
In 2015, direct-to-consumer genetic testing became a topic of everyday conversation. After Color Genomics launched genetic testing for breast and ovarian cancer it was profiled in Shape Magazine. Meanwhile, 23andMe became the first company to have U.S. Food and Drug Administration approval to market a genetic test directly to consumers, without a doctor’s prescription. Here at Illumina, we announced our Helix venture to create an ecosystem of high-quality content partners for direct-to-consumer sequencing. Reporter Meg Tirrell recently shared her personal genome sequencing experience on CNBC after participating in our Understand Your Genome symposium. Genomics is clearly no longer a discussion between just scientists and doctors. It has risen to the level of nations, as governments and health care systems see the benefits of personalized medicine. In the U.S., President Obama announced the Precision Medicine Initiative, which will ultimately collect samples from 1 million healthy volunteers to create a database of genetic information, making it the largest such effort by far. Meanwhile, Genomics England went into full swing, sequencing samples from both cancer and rare inherited disease patients – eventually the project will sequence 100,000 genomes. Finally, Iceland genome discoveries were featured in Nature Genetics. For genomics, the conversation with consumers is just getting started.
Anthem Covers NIPT for Average-Risk Pregnancies
For many expectant parents across the United States, the big news was the decision by health insurance company Anthem to provide coverage for Noninvasive Prenatal Testing (NIPT) for average-risk pregnancies. The insurer had previously covered NIPT for high-risk pregnancies. Currently there are 15 payors covering average-risk NIPT. Anthem and many regional Blue Cross and Blue Shield plans now cover NIPT for average-risk mothers, covering more than 55 million lives in total. This means with a simple maternal blood test, more parents can get information about whether their pregnancy has certain chromosomal conditions. Anthem’s move opens the door for more insurance providers to cover NIPT for the 4.1 million pregnancies each year in the U.S. over the course of the coming years.
The Year of Immunotherapy
For many, 2015 will likely be remembered as the year of immunotherapy. Unlike chemotherapy or radiation, this new field arms the body’s own immune system to fight cancer. In the past year this promising new trend in cancer care was especially meaningful for lung cancer patients. The U.S. Food and Drug Administration approved two new drugs for lung cancer (Opdivo and Keytruda) that target mechanisms used by cancer cells to evade the immune system. Patients who had failed conventional therapies and would otherwise succumb to the disease have responded dramatically. The latest example: former U.S. President Jimmy Carter, who has undergone treatment including immunotherapy for metastatic melanoma since August. Just this month Carter announced he is cancer-free, the Today Show and others reported. Genomic tumor profiling with NGS helps match cancer patients with the right combination of therapies.
CRISPR Sparks the Conversation on Gene Editing
Probably the most talked-about advance was CRISPR/Cas9, a gene-editing technique that can target and modify DNA faster, accurately and more affordably than ever before. The groundbreaking method could transform medicine, agriculture and more. Although the fact that Chinese researchers genetically modified non-viable human embryos made headline news, the story is much bigger. Research suggests that CRISPR/Cas9 can be used as a powerful tool to study gene function in human cells. To date, gene association studies have been mostly hypothesis-generating, but with this elegant tool it is easy to test and manipulate gene functions. CRISPR, which is becoming increasingly important for NGS applications, will profoundly impact our understanding of gene function in health and disease.
Genomics Fights Ebola
After the devastating Ebola epidemic in 2014, researchers continue to search for ways to contain future outbreaks and save lives. NGS has become a powerful weapon in the fight against Ebola, with genomic studies that enable researchers to track outbreaks and understand the deadly virus’s rapid mutation rate. Genome sequencing even helped solve a mystery of how a man sexually transmitted Ebola to his partner long after he was treated and tested negative for the virus; the woman later died. The NGS-driven discovery led to a publication in the New England Journal of Medicine and coverage in Time Magazine and other media outlets.
Looking back, it was another extraordinary year for genomics. In story after story, people everywhere saw the promise and power of the genome. Personally, I am inspired and humbled by the possibilities enabled by our technology and the work we do every day.