Top Genetics Stories of 2016
‘Tis the season for holiday celebrations, college football bowl games and, my personal favorite, 2016 wrap-up lists. It has been another exciting year in the genetic counseling space and I wanted to take this opportunity to share some of the big news and breakthroughs of this past year that impact healthcare, cancer, rare disease and other genetic and genomic issues.
1. Vice President Biden’s Cancer Moonshot Initiative
Cancer is sadly recognized as one of the diseases that almost every family will face at some point. Vice President Joe Biden and his family were no different. Biden’s son Beau died from brain cancer in May 2015 at just 46. Driven by this story and countless others, President Obama announced the start of the Cancer Moonshot Initiative, tasked with accelerating advances in all areas of cancer screening, prevention and treatment. On October 17, 2016, Biden delivered the Cancer Moonshot Blue Ribbon Panel Report detailing the key recommendations and projects that Cancer Moonshot would target.
Of particular interest to the genetic counseling community is the Lynch Syndrome Demonstration Project. Lynch syndrome is one of the most common hereditary causes of colon and other cancers, many of which are highly preventable with early detection and management plans. This project would establish a new national Lynch syndrome network, simplifying enrollment of patients with Lynch syndrome-related cancers into clinical trials and helping to expand genetic counseling capabilities and access to genetic counseling services. (Lynch syndrome advocate Georgia Hurst shared a blog post earlier this year about her experiences with Lynch syndrome and the benefits of genetic counseling.) As a genetic counseling community, we are enthusiastic to play a role in the realization of this incredible initiative.
2. 21st Century Cures Act Signed into Law
President Obama signed the 21st Century Cures Act into law on December 13, just under the wire for 2016. Widely hailed as the piece of legislation with the most bipartisan support this year, this Act provides $6.3 billion in funding for a wide range of healthcare efforts, many of which impact the genetics community. In addition to providing billions in funding for Cancer Moonshot and the Precision Medicine Initiative, the Act includes rules that will allow the Food & Drug Administration (FDA) to accelerate the approval of drugs and breakthrough medical technologies.
The Act is expected to have particular benefits for patients with rare diseases, which are often genetic. In a blog post, the current FDA Commissioner stated: “This new law rightly recognizes that patients should play an essential role in the development of drugs and devices to diagnose and treat their disease, since patients are in a unique position to provide essential insights about what it is like to live with and fight their disease.” Genetic counselors work closely with patients and families impacted by rare disease and are particularly well-suited to support them as these exciting changes are rolled out.
3. First Child Born with a “Mitochondrial DNA Donor”
When we think about our “genetic code” or DNA, we typically think of the genetic material that is inherited in equal amounts from our parents. This is called our nuclear DNA because it is found in the enclosed nucleus of all cells. But there is also a specific type of DNA that only comes from our mother, mitochondrial DNA, which is inherited in the egg. Although it only contributes about 0.000005 percent of the DNA in our genome, variations in this DNA can result in significant, even life-threatening, genetic diseases.
Scientists have been researching a procedure, done in conjunction with in vitro fertilization (IVF), which would use the nuclear DNA of the two intended parents and the “healthy” mitochondrial DNA of a female donor (leading to the popular, albeit misleading term, “three-parent baby”). This procedure has been controversial due to safety and ethical concerns and has actually been banned in the United States. Other countries, like the United Kingdom, allow for research in this area.
In September, New Scientist published an article detailing the birth of a baby in Mexico to a couple who were at risk to have a child with a mitochondrial disease called Leigh syndrome. The couple has two children affected with this disorder and used a mitochondrial DNA donor to conceive another pregnancy. They had a baby boy who appears to be healthy and well, paving the way for this to benefit other families with mitochondrial diseases. While mitochondrial DNA donors are not yet allowed in the U.S., genetic counselors will continue to support families with mitochondrial diseases in other ways.
4. Genetics Book Tops Reading Lists
One clear sign that genetics has impacted our lives and will continue to do so is when it becomes the topic of one of the best books of 2016. The Gene by Dr. Siddhartha Mukherjee has been featured on many “Best of” lists, including Bill Gates’ favorite books of 2016. In his review, Bill says “Mukherjee wrote this book for a lay audience, because he knows that the new genome technologies are at the cusp of affecting us all in profound ways.” Our genetic counselor community couldn’t agree more.
I look forward to seeing how these stories will continue to evolve next year and further advance the work of genetic counselors and genomics. Happy New Year!
Erica Ramos, MS, CGC is a personalized medicine expert for the National Society of Genetic Counselors and is a Senior Genetic Counselor at Illumina, Inc. in San Diego.