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Second National Conference on Genetics and Disease Prevention

Integrating Genetics into Public Health Policy, Research, and Practice

Genetics and Public Health




Population-Based Research
  • Population-based studies are needed to determine how the results of genetic tests predict the development of disease.
  • For each genetic variant, data on prevalence and correlation with disease in different populations will help determine the risk for various groups for developing the disease.
  • Since a particular genetic test's sensitivity and specificity may vary in each population, different tests may need to be employed in different populations.
  • CDC's population-based research initiatives focus on a wide range of diseases (infectious, chronic, occupational, early-onset childhood) in which gene-environment interaction plays a sizeable role.
Infrastructure and Capacity Building
  • Costs of genetic testing are significantly higher than are those for other health services. Current funding sources include contracts with state health departments (major source), hospitals, laboratories, medical schools, HMOs, and fees for service.
  • Maternal Child Health Block Grants fund newborn screening, genetics resource centers, and integrated state information systems based on needs assessments and health status indicators. http://www.mchdata.net.
  • Quality of testing among numerous laboratory sites must be assured. Clinical validity (the accuracy of the test in predicting disease) and clinical utility (the health benefits of taking the test) must be determined.
  • Data collected around genetic testing should be used more effectively. Through public-private partnerships, organizations can share information and expertise in research, education, and policy.
  • The Department of Health and Human Services Genetics Task Force, an interagency group, is conducting two pilot studies in hemochromatosis and cystic fibrosis to provide a model data framework for assessing the accuracy and benefits of future genetic tests.
  • Funding for "bioterrorism" is expected to upgrade public health systems overall, with a spillover effect for epidemiologic research, laboratory studies, and electronic communication.
Information and Education Efforts
  • Educating the public about using genetic information for preventing disease is difficult due to the popular focus on treatment. "Know your family history" may be one broad-based public health message to help prepare for the new era of medical care.
  • Decision-makers, legislators, policy-makers, insurers, employers, and consumers need education about the psychosocial and ethical issues in using genetic information.
  • National Institutes of Health educational efforts recognize that the public has a right to information on genetics and disease. The Human Genome Project's use of the Internet provides a model for educational efforts. http://www.nhgri.nih.gov/
  • Health Resources and Services Administration supports university-level courses and faculty development and funds demonstration projects on the integration of genetics into primary care. http://www.mchb.hrsa.gov/
  • CDC provides public health professionals with information about genetics and disease prevention at its Web site and through conferences, workshops, training, and career development opportunities. http://www.cdc.gov/genomics/
  • Several schools of public health now support academic programs on public health genetics. These programs combine biostatistics, epidemiology, basic sciences, and health policy.
Policy and Legislation Issues
  • The Secretary's Advisory Committee on Genetic Testing (SACGT) is addressing the oversight of predictive genetic testing and the balance between access to testing and assurance of its appropriate use.
  • Most lawmakers understand the need for basic genetic research but not for research on how to apply the findings to populations. Policies regarding the potential impact of genetics information lag behind support for genetic discoveries.
  • When describing a program to Congress, it is important to give examples of who will¬† be helped and how much money will be saved and to quantify the resources needed, provide justifying scientific data, and demonstrate collaboration and cooperation.
  • The proposed Genetics and Public Health Services Act provides two pathways for integrating genetics into public health services: a block grant approach for developing ways to use genetic information and grants for studying ways to translate research into practice.
Service Delivery Challenges
  • The public health challenge is to use genetic information to develop safe and effective interventions to improve health, from screening for early-onset diseases such as PKU or sickle cell disease, to identifying genetic susceptibility to adult-onset diseases.
  • Genetics, integrated into the "10 essential public health services," includes identifying community health problems with a genetic basis; educating people to use genetic information to improve health; and ensuring appropriate genetic testing and counseling.
  • HRSA is primarily responsible for ensuring equity of access and patients' understanding of the new tests and therapies. Women with low education and income levels are the least likely to receive genetic counseling services.
  • Evaluation of health service delivery at the state level includes the analysis of state newborn screening programs, early identification of children with gene-linked disorders, and a Council of State and Territorial Epidemiologists - Association of State and Territorial Health Officers survey of state genetics-related activities.

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  • Additional information for Public Health Genomics is available on our contact page.
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