HuGENet™ Publication Appendix


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Appendix 1.1: Examples of current initiatives in public health genetics/genomics

  • Centers for Genomics and Public Health
    Established by collaboration between the US Centers for Disease Control and Prevention and the Association of Schools of Public Health, and located at the Universities of Michigan, Washington and North Carolina. The Centers contribute to the knowledge base, provide technical assistance to local, state, and regional public health organizations and develop and deliver training to the public health workforce.
  • Genomics, Health and Society
    A multidisciplinary research team in an epidemiology and public health research unit from the National Institute for Health and Medical Research (Inserm U 558) located within the Federative Research Institute on health, society at the University Paul Sabatier of Toulouse, France, including biologists, clinicians, geneticists, philosopher, lawyers, sociologists and economists and leading the genetics and society platform of the Toulouse Genopole.
  • Genomics Directorate of the Population Health Division, Western Australian Department of Health
    Aims to facilitate the integration of genetics into all aspects of public health, policy and programs.
  • German Center for Public Health Genomics
    A German think tank in the field of public health genomics operating on the national, European and international level. As an umbrella institution located at the University of Applied Sciences in Bielefeld, it aims toward the advancement of interdisciplinary translational research through various fields of science and the humanities interdisciplinary and interinstitutional long-term cooperation and exchange across the boundaries of established academic disciplines as well as between relevant stakeholders in the German healthcare system.
  • HumGen
    An international database on the legal, ethical and social aspects of human genetics, HumGen developed as a collaboration between academia, government and industry by the Centre de Recherche en Droit Public at the University of Montreal.
  • HuGE Navigator
    A searchable database of all the documents available on the Office of Genomics and Disease Prevention Web site, including the HuGE Net database.
  • PHGU Genetics Policy Database
    A web database of literature on policy development for genetics in health services and healthcare.
  • This project aims to develop a coordinated process for evaluating genetic tests and other genomic applications that are in transition from research to clinical and public health practice
  • HuGENet™
    A global collaboration of individuals and organizations committed to the assessment of the impact of human genome variation on population health and how genetic information can be used to improve health and prevent disease.
    The Public Health Genomics European Network (PHGEN) is an EU-funded project (No. 2005313) covering all EU Member States, Applicant Countries, and EFTA-EEA to promote and stimulate the countries’ efforts by developing PHG and by supporting effective networking in this emerging field in order to reach sustainability.

Appendix 1.2: Public health action to evaluate proposed population screening for hereditary hemochromatosis

With discovery of the HFE gene in 1996 and the identification of HFE mutations as the primary cause of hereditary hemochromatosis, many experts identified HFE mutation testing as a model for genetic screening of adult populations. Public health leadership has played an important role in evaluating this potential intervention.

1997-Meeting convened in US by NHGRI and CDC to evaluate state of knowledge about HFE and hereditary hemochromatosis, resulting in:

  • Consensus statement calling for more research on HFE mutation penetrance before screening
  • Series of articles defining current knowledge and practice standards

1999-International jury incorporating expertise in medicine, epidemiology, health services, ethics and social sciences convened to develop evidence-based recommendations regarding screening for hemochromatosis, under auspices of CDC and EASL.

  • Jury recommended against population screening in absence of research documenting outcome benefit
  • Jury recommended that diagnosis of hereditary hemochromatosis be reserved for symptomatic patients (as opposed to asymptomatic patients identified by biochemical or DNA-based testing)

2000-04-Population-based study of screening for hereditary hemochromatosis in 100,000 subjects funded by NHLBI and NHGRI found that

  • Penetrance of HFE mutations low (consistent with smaller studies from US, Australia and Europe)
  • Symptomatic hereditary hemochromatosis are rare
  • Other population-based reports from Europe and US confirm low penetrance of HFE genotypes

2004-Launch of a CDC Web site providing education about hereditary hemochromatosis for healthcare providers and the general public, with an emphasis on identification of early symptoms of hereditary hemochromatosis by
healthcare providers and family-based screening.

Appendix 1.3: Educational initiatives in public health genetics/genomics

Examples of educational initiatives that recognize the multidisciplinary approach of public health genomics.

Genetics in Public Health Training Collaboration with liaisons to the Washington State Department of Health, the Centers for Disease Control and Prevention and the Health Resources and Services Administration. This collaboration includes the University of Washington, University of Michigan, University of Minnesota, University of North Carolina, University of Pittsburgh and Johns Hopkins University.

University of Michigan: Public Health Genetics Interdepartmental Concentration (PHGIC)
Students obtain MPH, MS or PhD degrees in one of the five departments of the School of Public Health following a curriculum that includes introduction to basic science of genetics, genetics in epidemiology, ethical, legal and social issues and opportunities to gain practical experience through internships and independent studies.

University of Washington: Multidisciplinary program for Public Health Genetics in the context of law, ethics and policy. The academic component of the Public Health Genetics program consists of a two-year graduate program leading to a Master of Public Health (MPH) degree in Public Health Genetics, a graduate certificate program, and a graduate program leading to a doctoral (PhD) degree.

Public Health Genetics Unit, Cambridge
The Public Health Genetics Unit provides courses in public health genetics for the University of Cambridge medical undergraduate course in public health, Masters of Studies in Public Health and Master of Philosophy in Epidemiology. It provides six-month placements for public health specialists in training. These placements include an attachment to Cambridge Regional Genetics clinical and laboratory services and involvement in the full range of PHGU multidisciplinary work. The PHGU also provides shorter courses such as the five-day Genetics and Health Policy course, and has the facility for visiting fellowships and other shorter or longer attachments by arrangement.

Center for Genomics and Disease Prevention, Center for Disease Control and Prevention
The Center for Genomics and Disease Prevention (CGDP) has developed public health genomics competencies for the existing workforce. The competencies and the process used to develop them are summarized at the CGDP Web site ( Competencies are defined for the entire public health workforce and for specific subsets, including leaders/administrators, clinicians, epidemiologists, health educators, laboratory workers, and environmental health workers.