From Genomics to Population Health
Danielle Laraque, MD, FAAP
Chair, Deparment of Pediatrics
Vice President, Maimonides Infants and Children's Hospital of Brooklyn
On September 3, 2013, a day after Labor Day, we began the new academic year with my inaugural Grand Rounds entitled Challenges of the 21st Century: Child Health and Well-being. I enjoyed preparing for this talk because it allowed me to focus on the whirlwind changes that are occurring in health care, our role as child health professionals, and the necessary practice, transformative ideas that must take root if we are to be the experts in delivering the full continuum of health care services to infants, children, adolescents and young adults.
So, what are the fundamental ideas of the 21st century and how do to they affect your practice of medicine? An obvious one has been the explosion of medical information and ready access of these data through electronic means. This has meant the development of just in time decision support tools for clinicians who must utilize evidence-based and evidence-informed practices. The changing paradigm of pediatric medicine has revolved around the incredible development of three systems. The first, as noted, is the medical knowledge base or systems biology; the second is practice-based or quality improvement systems; and the last is system-based practice as represented by teamwork and community outreach.
Systems biology has been revolutionized by the advances in genomics. Genomics, the study of the structure and function of the genome expanded our detailed knowledge of the mechanisms underlying diseases. The structure of DNA, determined by Watson and Crick in 1953, gave birth to the field of molecular genetics which explores both the structure and function of genes – that is, gene expression during development and the impact of the environment. Epigenetic phenomena have been most recently described as the changes (e.g. methylation) in chromosomes or gene function that are stable and potentially heritable, but do not change the DNA sequence – emphasizing gene-environment interactions. This has dovetailed with the ongoing discussions of the social determinants of health such as poverty – and discussions of early brain development and toxic stress. Adverse childhood events have gained attention with the recognition that they not only impact a traumatized infant or child but also that this toxic stress in childhood causes physiologic disruptions that persist into adulthood and lead to frank disease even in the absence of later health threatening behaviors – e.g. alterations in immune function (inflammatory markers) associated with diverse CV diseases, viral hepatitis, liver cancer, asthma, COPD, autoimmune disease, poor dental health and depression.
Other discoveries in developmental biology are exploring critical periods during the life span, conditions in the fetal environment, such as nutrition and stress, that can lead to permanent changes in the epigenome that increase the risk of developing chronic metabolic and cardiovascular disease in adulthood. These discussions have led to exploration of the epidemic of chronic diseases (the millennial morbidities) such as obesity and the need to devise public health interventions and examination of the impact of the built environment on health.
So what does all of this mean to the practicing physician? First, in the not too distant future you may have parents come to your practice asking for explanation of their child’s genomic information which they just purchased for under $100 (the current price). But also, it challenges all of us as child health professionals to examine the changes that we can institute now in our practices. There are evidence-based, psychometrically sound, easy to use tools to screen for depression, exposure to trauma, and the functional status of children in our practices. We can better train ourselves and our trainees in fully integrating behavioral and mental health in our primary care and specialty practices. We can operationalize the concepts of community pediatrics and the medical home through our understanding of the eco-bio-developmental framework that leads us to discussion of the health of not only one child but the population of children who may or may not cross the threshold of our practices.
So the challenges of practicing in the 21st century are large. Embedded in this complex, systems biology evolution is the need for constant practice performance improvement. We must learn to function not in isolation but in teams of professionals that extend beyond the walls of our practices or the hospital (topics for another newsletter article). We must also be cognizant and take hold of the larger societal and health care changes such as changes in payment structures and health care delivery models. For example, many offices are affiliating with larger practices, joining new networks, or exploring invitations by hospitals and emerging community health systems to join population based health care consortia. The federal government is expanding options for ACO’s, more hospitals are merging or changing their scope of services, insurers are also merging and changing the kinds of coverage they are offering. Employers large and small are looking at new coverage options that the New York State Health Insurance Exchange, called New York State of Health, can offer. New York State’s Medicaid Reform Initiatives started with the MRT (Medicaid Reform Task Force) are moving forward on several levels. Health Homes for medically complex adults are being created, supported and evaluated. Models for Health Homes for Children are being explored by various state work groups. Behavioral Health services are being integrated into primary care, either as contract ancillary services or co-located attached to primary care. Population health approaches are also being explored by larger health systems. Many of these new initiatives have the potential to have an impact on your practice.
The Maimonides Infants and Children’s Hospital of Brooklyn (MICH), your hospital, is a full service tertiary care, teaching facility dedicated to supporting your efforts in caring for your patients in the 21st century. From genomics to population health, we are committed to excellence. Thank you for being a part of the Department of Pediatrics and MICH. Much awaits us, but together we are up to the task!