Transcript: Video from Muin J. Khoury M.D., Ph.D.
Office of Public Health Genomics
I'm Muin Khoury, Director of the Office of Public Health Genomics, at the Centers for Disease Control and Prevention. I'm truly delighted today to speak with you about the integration of genetics and genomics into pediatric primary care. In the next decade, we'll have increasing opportunities for such integration. This will require closer partnerships between clinical medicine and public health. Just a decade ago since the completion of the Human Genome Project, breathtaking advances continue to occur in genetics, genomics, and the whole slew of "omic" fields. Now why are these advances relevant to pediatric primary care today and in the near future, and how will these advances impact pediatric practice?
First, genetic factors play a role in almost all diseases and conditions of public health significance; from traditional genetic diseases like cystic fibrosis and sickle cell disease to common complex conditions such as birth defects, diabetes, as well as susceptibility to environment exposures, infectious agents, as well as response to common pediatric medications.
Second, there are currently over 8,000 genetic tests for more than 3,000 conditions involving 6,000 or more genes that are included in the NIH Genetic Testing Registry. Most of these tests are for diseases with onset in infants and children.Furthermore, the advent of massively parallel next generation sequencing is facilitating analysis of multiple genes and now it's being used to sequence coding regions of the genome for clinical testing of suspected genetic diseases.
Third, almost all the approximately 4 million infants born in the United States each year participate in state-based public health run newborn screening programs. These programs detect more than 10,000 babies with 30 or more genetic and other conditions that require immediate interventions, long-term follow-up, family counseling, and social services. In addition, in the next decade we'll also be exploring the integration of next-generation sequencing and newborn screening to supplement existing biochemical and other approaches to screening.
Fourth, more than 50 percent of the population has a family history of one or more close relatives with diseases of public health significance such as cancer, diabetes, and heart disease. Family health history remains the most accessible genomic tool and reflects shared genetic and environmental factors that may increase risk for a wide variety of diseases. Family health history informs care in the pediatric setting and throughout life.
Finally, as clinical practice becomes more genomically enabled, an informed pediatrics workforce will play a crucial role in using this information in risk assessment, health promotion, and disease prevention both for genetic diseases, and complex diseases for genetically informed drug prescription as well as referrals to medical genetics and other specialties. With a tremendous amount of new information generated by these new technologies, the primary care pediatrician will be at the forefront of education and communication with patients and families in involving them in shared decision making about return and management of genomic results. In addition to genomics, other "omic" sciences such as metabolomics, transcriptomics, proteomics and others are expected to mature in the next decade and lead to valuable information and practice. Advances in pathogen genomics, bioinformatics, and unraveling the microbiome will lead to better approaches in detection and control of infectious diseases in individual patients as well as community outbreaks. Progress in epigenetics promises to provide important tools for evaluating the interaction between the human genome and environmental factors across the lifespan. Such interactions can shape early life influences and the occurrence of later onset diseases such as cancer and heart disease. Primary care practitioners need to be aware of these new areas of genomic sciences, even though only a few clinical applications are currently available.
Last but not least, changes in policies and infrastructure are needed in order to support the integration of genomics into pediatric primary care medicine. A public health healthcare collaboration will support such integration. As we move forward, there will be significant challenges to an already challenged healthcare system. While genomic medicine is expected to provide targeted and personalized approaches to pediatric care, it may also increase healthcare costs and utilizations and potentially lead to unnecessary procedures and interventions with unknown benefits and potential harms to patients, communities, and the health systems. How can then we evaluate the balance of benefits and harms of these emerging genomic technologies in improving health outcomes for individuals and populations?
How can we ensure that the promise of genomic medicine gets realized equitably and doesn't lead to widening health disparities in our population? At the recent Genomics and Health Disparities Conference, several speakers showed that many adult evidence-based genomic applications that can save lives today, have not implemented optimally across the U.S. population. There are remarkable disparities by race, income, and location.
A collaborative infrastructure in the areas of research, policy, and implementation can move us further in the direction of fulfilling the promise of genomics in improving health. This is the main pursuit of the relatively new field of public health genomics which is concerned with the effective and responsible translation of genome-based knowledge to improve population health. The necessary infrastructure can be informed by the current newborn screening system and will be needed to accomplish several goals.
First, to assess the contribution of genomics and other new markers to health and health disparities in a larger social and environmental context.
Second, to evaluate the benefits and harms of these promising new technologies for the potential to improve health and healthcare.
Third, to utilize evidence to inform development of policies, programs, communication, and educational strategies for integrating genomics into practice.
Fourth, to measure population health impact of new technologies. We truly live in an exciting time of great scientific discoveries and big data. The leading edge of next-generation sequencing has already reached clinical practice. A decade ago during an Institute of Medicine Workshop, exploring the intersection of genomics and public health, Dr. Bill Foege, a prominent public health leader stated and I quote, "The challenge to public health genomics is to overcome inequitable allocation of benefits. The tragedy that would befall us if we made the promise of genetics only for those who could afford it and not for all of society."
CDC is committed to translating genomics into population health benefits for all. Through its science and programs, CDC will be working with many partners to advance integration of genomics into clinical practice across the lifespan.