January 3rd, 2013 2:17 pm ET - Muin J Khoury, Director, Office of Public Health Genomics, Centers for Disease Control and Prevention
In 2012, the United States and the United Kingdom marked 15 years of public health genomics, a multidisciplinary field that deals with the effective and responsible translation of genome-based science to improve population health. Fifteen years ago, a new era of personalized healthcare and disease prevention seemed only around the corner. However, the promise of the Human Genome Project was mixed with unrealistic expectations. The “genomics revolution” was expected to be applied in the very near term to broad segments of the population. The public health genomics community called for a scientific approach to explore the balance of benefits and harms of the new science in both clinical and population health applications. Simultaneously, an international collaboration developed a road map for integration of emerging genomic technologies into health practice. A major achievement for public health genomics has been an enhanced dialogue among the basic, clinical and public health-related scientific communities. Public health genomics also has begun to prepare the workforce for integrating new tools in practice and for integrating genomics in public health’s essential functions of assessment, policy development, assurance and evaluation.
So where are we 15 years later? With rapid improvements in technology, we are seeing the leading edge for applications of whole genome sequencing in health practice both for the detection and control of infectious disease outbreaks, and for the identification of people with increased risk for a wide variety of rare and common diseases of public health significance. Although much of the field will be a work in progress for quite some time, an increasing number of genomic applications can actually save lives now by improving health and preventing disease in the US and worldwide. As the genomics revolution turned into an evolution, it is no longer the case that genomics is “not ready for prime time” for clinical and public health use. Nevertheless, public health’s initially understandable but still persisting “wait and see” attitude needs to change.
To help with the integration of the tools of genomics in health practice, in 2012, the CDC Office of Public Health Genomics developed an evidence-based classification schema for human genomic applications in medical and population settings. The schema takes a population perspective for an emerging role for public health programs to supplement clinical practice. One may be surprised to see on this list several applications that are supported by recommendations from evidence panels. In addition to newborn screening, which is the largest public health genetics program in the world, an increasing number of applications are being regularly added to the list. Newborn screening in the United States leads to the diagnosis and management of more than 12,000 newborns every year with one of 31 disorders recommended for the uniform newborn screening panel. Additionally, there are currently about 2 million persons in the US affected with one of three genetic conditions that put them at increased risk for early heart attacks and cancer. Most affected individuals are not aware of their risk and there are evidence-based interventions that can significantly reduce their risk. A combined public health and healthcare approach using cascade screening could provide access to genetic evaluation and preventive interventions in relatives of affected patients. These applications are only the tip of the iceberg for what’s to come in the next decade. For example, there are genomic tests in clinical practice for more than 2500 diseases, more than 100 pharmacogenomic tests that have been suggested for use for a wide variety of diseases, emerging prenatal tests, enhanced newborn screening panels, a plethora of genome-based biomarkers, as well as the advent of whole genome sequencing for both pathogens and humans.
The next 5 years will require a closer collaboration among public health, healthcare organizations and the private sector to implement what we know to benefit populations. The public health community can serve as the honest broker for rapidly emerging applications and technologies, and help ensure that the tools of public health science are used appropriately to evaluate the health impact of genomics at the individual and population levels.