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GEN Exclusives

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Sep 1, 2014 (Vol. 34, No. 15)

Translating Genomic Advances

Going Beyond the “Bench to Bedside” Paradigm to Encompass Societal Benefits

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    Muin J. Khoury, M.D., Ph.D.

    Thirteen years after the completion of the Human Genome Project, an increasing number of genomic applications including next generation sequencing (NGS) are poised for clinical use. Fulfilling the promise of genomics to improve health in the real world requires a public health perspective.

    As genomics reaches the bedside, a public health “post bedside” research agenda will be able to: 1) assess the contribution of genomics and other new markers to health and disease in the larger social and environmental context (2) evaluate promising genomic technologies for their potential to improve health and healthcare; (3) design appropriate strategies for integrating genomics into clinical and public health practice and ensuring access; and (4) continuously measure population health impact of these new technologies.  This research agenda is one part of the mission of public health, namely to ensure conditions by which people can be healthy. The three essential public health functions can be applied to genomics: policy development, assurance, and assessment.

    1. Policy development: public health serves as a convener and honest broker, advising providers, the public, and policy makers on the potential net health impact of a particular health technology including genetic testing.
    2. Assurance involves implementing appropriate programs (such as newborn screening), laws, and regulations, assuring access, and strengthening providers’ genomic competencies and the general public’s health literacy.
    3. Assessment applies public health sciences to monitor and evaluate effectiveness, quality and outcomes of deployment of genomic technologies in populations.
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    Scott Bowen, MPH

    In 1997, the CDC established the Office of Public Health Genomics dedicated to the effective and responsible translation of genome-based science to improve population health in the United States. At that time, a new era of personalized healthcare seemed around the corner. However, the promise of the Human Genome Project was mixed with unrealistic expectations.

    The public health community called for a scientific approach to explore the balance of benefits and harms of the new science. A major achievement for public health genomics has been to make these concerns central to the 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.

    So where are we after 17 years of public health genomics? There are 5 main areas of ongoing progress in public health genomics, where emerging information is making a real impact on improving health and preventing disease in populations:

  • Newborn Screening

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    Each year millions of babies are routinely screened for certain genetic, endocrine, and metabolic disorders. [millaf/]

    2013 year marked 50 years of saving lives through newborn screening which remains the largest public health genetics program in the world; is run by public health agencies in all 50 states in the US and; identifies more than 30 conditions that can affect a child’s long-term health or survival. Early detection, diagnosis, and intervention in more than 12,000 babies every year helps prevent death or disability. Each year, millions of babies in the U.S. are routinely screened for certain genetic, endocrine, and metabolic disorders using a few drops of blood from the newborn’s heel, or a point of care test at the bedside. The Affordable Care Act requires many health plans to cover these newborn screenings with no cost sharing.

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