The idea behind Precision Medicine (PM), or its precursor, Personalized Medicine, has been tossed around the healthcare field for more than a decade now [1,2]. Whether it’s called PM, P4 medicine (Predictive, Preventive, Personalized, Participatory) , or systems medicine , it’s not dramatically different from how physicians have been treating patients for centuries—focusing on the patient and their specific problem at a particular timepoint with the information available at that time. With the completion of the Human Genome Project in 2001[5,6], doctors and scientists have argued that integrating genomic information with more standard clinical measurements could improve health outcomes.
Despite the substantial hope surrounding PM and the clinical use of genomic information, few medical centers have succeeded integrating the data in a meaningful way for clinicians, and even fewer are bringing patients into the equation. This has led many to declare that PM is mostly hype, excepting a handful of specialties, like oncology or pharmacogenomics, even as technology supporting data analytics, machine learning, and artificial intelligence improves [7,8,9]. What is the average patient or healthcare consumer to believe? Is genomic medicine ready for prime-time?
In my book, MoneyBall Medicine: Thriving in the New Data-Driven Healthcare Market, I write about some of the successes of PM, such as genetic testing for patients with cancer. Only a few decades ago, treatments for patients with cancer were standardized based on the tissue the cancer originated: breast cancer patients were given breast cancer drugs, colorectal cancer patients were given colorectal cancer drugs, and so on. But the Human Genome Project’s conclusion led to tremendous growth and innovation in the diagnostics industry: scientists identified the gene or variant responsible for a disease and a diagnostic to test for that variant was developed. Myriad Genetics is probably one of the most well-known labs for its early test for hereditary breast and ovarian cancer, the BRACAnalysis . With increasing amounts of data on the genetic drivers of cancers, scientists found similarities between different cancer types and how patients with particular mutations responded to chemotherapies. Today, it’s often routine to have genetic testing done at the time of diagnosis for cancer and treatment is just as likely to be determined by genetic mutation as the site where it originated.
Robert Green, director of the Genomes2People Research Program at Brigham and Women’s Hospital, Broad Institute and Harvard Medical School is no stranger to the PM field. Board-certified in neurology, Green re-trained in the growing specialty of medical genetics, once considered the domain of rare disease and hereditary syndrome patient care. Today, he is recognized around the world as a leader in PM where he has rigorously conducted experimental trials in translational genomics. In the next episode of the MoneyBall Medicine Podcast, I talk with Dr. Green about the field of medical genetics and how the healthcare industry’s data silos and resistance to change have been a barrier to greater implementation of PM. We discuss the role of industry to drive innovation in this space and what concerns him about an industry-driven healthcare landscape. We explore the roles of artificial intelligence and other technologies to support Precision Medicine and genomic medicine and consider what changes need to happen in healthcare to make an evolved healthcare system a reality. Join me for this episode of the MoneyBall Medicine Podcast!
Emmert-Streib, F. 2013. Personalized medicine: Has it started yet? A reconstruction of the early history. Frontiers in genetics 3 313-.
Redekop, W. K. and Mladsi, D. 2013. The faces of personalized medicine: a framework for understanding its meaning and scope. Value Health 16 (6 Suppl):S4-9.
Flores, M., Glusman, G., Brogaard, K., Price, N. D. and Hood, L. 2013. P4 medicine: how systems medicine will transform the healthcare sector and society. Personalized medicine 10 (6):565-76.
Apweiler, R., Beissbarth, T., Berthold, et al. 2018. Whither systems medicine? Experimental &Amp; Molecular Medicine 50 e453.
Lander, E. S., Linton, L. M., Birren, B., et al. 2001. Initial sequencing and analysis of the human genome. Nature 409 (6822):860-921.
Venter, J. C., Adams, M. D., Myers, E. W., et al. 2001. The sequence of the human genome. Science 291 (5507):1304-51.
Anderson, C. 2018. AI Influencing Precision Medicine but May Not Match the Hype. Clinical Omics. https://www.clinicalomics.com/articles/ai-influencing-precision-medicine-but-may-not-match-the-hype/1661
Mennel, R. G. 2015. Precision medicine: hype or hoax?Proceedings (Baylor University. Medical Center) 28 (3):397-400.
Walker, T. 2018. Is Precision Medicine Worth the Hype? Oncologists Weigh In. Managed Healthcare Executive. http://www.managedhealthcareexecutive.com/leukemia-and-lymphoma/precision-medicine-worth-hype-oncologists-weigh
Glorikian, H. B., Malorye Allison. 2017 MoneyBall Medicine | Thriving in the New Data-Driven Healthcare Market.