Genomics and big data key to advancing precision medicine

Francis S. Collins, MD, PhD
Francis S. Collins, MD, PhD

Francis S. Collins, MD, PhD, a physician-geneticist and Director, National Institutes of Health (NIH)—sometimes known as “the gene hunter” for developing new methods of crossing large stretches of DNA to identify disease-specific genes—describes the NIH as the “steward of medical and behavioral research for the U.S.” A primary goal of the agency is the “pursuit of fundamental knowledge about the nature and behavior of living systems and the application of that knowledge to extend healthy life and reduce illness and disability,” he said in his opening remarks for the 2018 Martin Memorial Lecture, NIH: The National Institutes of Hope, immediately following Monday’s Opening Ceremony to Clinical Congress.

With a current appropriation of $39 billion, the NIH’s “highest priority is early stage investigators,” said Dr. Collins. “It’s a good time for young investigators.”

“I call the NIH ‘the National Institutes of Hope,’” said Dr. Collins, noting the agency’s mission to “uncover life’s foundations and translate discovery into health.” A part of that mission involves human genome research. Dr. Collins led the successful effort to complete the Human Genome Project, a multidisciplinary scientific project directed at mapping and sequencing human DNA and determining aspects of its function.

Dr. Collins said cancer genomics, in particular, are key for advancing precision medicine. “Today, it’s less important what organ the cancer is in and more important to optimize targeted therapies,” he said, noting that genome sequencing of cancer to identify what pathways are causing those cells to become malignant guides physicians in the right course of treatment rather than the more traditional one-size-fits-all approach.

The NIH’s goal of extending the precision medicine approach is perhaps most evident in the All of Us Research Program, launched May 6 in seven U.S. cities with the goal of building a national research cohort of at least a million participants. “This is how we will get data for precision medicine,” said Dr. Collins, adding that the program is one reason he calls the NIH the National Institutes of Hope. “This data, which reflects the rich diversity of the U.S., will empower a wide array of researchers and will be a platform from which many other studies may be built,” explained Dr. Collins.

Dr. Collins also addressed the nation’s opioid crisis. “There are more than 2 million Americans who are addicted to opioids, and most started with prescription medicines,” he said. “This is very troubling, and it is showing no signs of leveling off any time soon.” However, he noted that “research has revolutionized our understanding of addiction and pain,” and he called for a “rapid transition of this knowledge into nonaddictive approach to pain management.”

In April, the NIH launched the Helping to End Addiction Long-term (HEAL) initiative with the goal of amplifying science-based solutions (flexible medication options, novel immunotherapies, and so on) to stem the opioid public health crisis. The HEAL program successes include the development of the nasal form of naloxone, the most commonly used nasal spray for reversing opioid overdose, the development of buprenorphine for the treatment of opioid use disorder, and evidence supporting nondrug techniques (acupuncture, meditation, and so on) to control and manage pain.

“This is a remarkable moment in medical research,” said Dr. Collins, referring to the full spectrum of investigative work supported by the NIH. “There are incredible opportunities for young scientists to get engaged. Come to the NIH with your best ideas.”

The Martin Memorial Lecture was established in 1946 to honor Franklin H. Martin, MD, FACS, founder of the ACS, and his wife, Isabelle Hollister Martin. The Martin Memorial Lecture is alternately nominated by the Advisory Council for Urological Surgery and the ACS Honors Committee.