Actress-director Angelia Jolie Pitt’s recent decision to have her ovaries and fallopian tubes removed -- coupled with an earlier 2013 double-mastectomy -- underscore the extent to which genomic medicine is moving out of the laboratory and into the mainstream.
Pitt, 39, pursued the surgeries as a precaution after she tested positive for a mutation in the BRCA1 gene. The abnormality put her at an 87% risk for breast cancer and a 50% risk for ovarian cancer.
The expanding use of genomics in both diagnostic and therapeutic applications marks a revolution that many expect will dramatically reshape medicine in the years to come. Momentum is building on multiple fronts: In January, the Obama administration announced a $215 million research effort aimed bolstering genomic science as part of a broader care initiative known as precision medicine.1
Precision medicine is a comprehensive approach to disease prevention and treatment that takes into account differences in genes, environments and lifestyles. The science provides new tools to better understand the mechanisms underlying a patient’s health, disease or condition, and helps clinicians more accurately predict which treatments may be most effective.
Louis Wright, MD, a pathologist and consultant with McKesson Business Performance Services (McKesson), said clinicians today are pushing to better understand the role of genetics across a range of specialties. Wright is founder of PSA, a pioneering provider of business services for clinical labs and pathology practices that was acquired by McKesson in 2012.
“Genomics basically allows us to take evidence-based medicine to a level we never dreamt of,” said Wright, who also serves on a multi-disciplinary genomic advisory group sponsored by the National Human Genome Institute, part of the National Institutes of Health. “You’re seeing very precise treatments emerge that are tailored specifically to the individual. The potential for improving care is extraordinary.”
Push in cancer
Although professional organizations across medicine are supporting wide-ranging genomic research in their specific fields, the most dramatic genomic applications currently are taking place in cancer care.
Not only are screenings like the BRCA1 gene proving effective, but so too are treatments targeting the specific genetic makeup of the individual or tumor. Patients with breast, lung and colorectal cancers, as well as melanomas and leukemias, now routinely undergo molecular testing as part of their care plan. The approach allows physicians to fine-tune treatments in order to enhance the odds for survival while minimizing adverse exposures and effects.
Breakthroughs are becoming commonplace. In late March, researchers at the University of Colorado Cancer Center announced the identification of a newly described mutation that will help identify patients at risk for acute lymphoblastic leukemia. The disease affects 30,000 people, mostly children, annually in the U.S.2
The administration’s recently announced precision medicine initiative is aimed at integrating genomic research and tools with more effective population health and data management. Among the program’s funded elements:3
- $130 million to NIH for the development of a voluntary national cohort of a million or more volunteers who agree to be tested genetically to improve and expand researchers’ understanding of health and disease.
- $70 million to the National Cancer Institute (NCI) to identify genomic drivers in cancer and apply that knowledge toward more effective approaches to cancer treatment.
- $10 million to the Food and Drug Administration (FDA) to modernize a regulatory infrastructure that was developed to support a “one-test, one-disease paradigm” in order to better capture the potential of next-generation genetic testing.
- $5 million to the office of the National Coordinator for Health Information (ONC) to support the development of interoperability standards and requirements that address privacy and enable secure exchange of data across systems.
Building an information infrastructure that will allow new and existing clinical studies to be unified will be one of the most important first steps in the precision medicine initiative, according to Francis Collins, the director of the NIH. True data transparency will require creative new approaches for analyzing biomedical information culled from a range of sources, including clinical trials and electronic health records.4
A steep learning curve
McKesson’s Wright said one of the greatest hurtles facing precision medicine therapies is a general lack of knowledge and expertise about genetic testing and therapies among many practicing clinicians.
A recent article in the New Yorker argued that many doctors simply are not qualified to either make sense of genetic tests or effectively communicate results to their patients. Because of the shortage of trained medical geneticists, physicians often receive training in genetic tests from testing companies themselves -- companies which sometimes push new products without sufficient evidence of their efficacy.5
“We are at the bottom of an incredibly steep learning curve, and it’s going to take time for clinicians to catch up,” Wright said.
All physicians -- from primary care doctors in rural settings to specialists practicing at large academic medical centers -- should work with their specialty organizations to begin creating strategies for incorporating genomic medicine into their practices, Wright said.
Typically, that will mean either developing expertise and working knowledge in your specific area, or learning who the experts in the field are and how to harness their skills and capabilities to improve patient care.
“The takeaway for physicians is that you can’t stick your head in the sand on this, just because it is complicated,” he said. “You need to move forward and be prepared to provide this new science to your patients.”