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Second National Conference on Genetics and Disease Prevention

Integrating Genetics into Public Health Policy, Research, and Practice

Overview of Scientific and Technological Advances in Genetics

Progress of the Human Genome Project
  • Ninety percent of the human genome should be sequenced and information available on the Internet by the spring of 2000.
  • The next goal is to catalogue the estimated six million variations in human genetic sequences (single nucleotide polymorphisms or SNPs).
  • By the year 2010, we expect that common genetic variants that increase disease risk will be identified.

Discoveries in Molecular Biology
  • The use of genetic markers will make epidemiology both more complex and more powerful. In 20 years, collection of data on individual genetic profiles will be an integral component of all epidemiologic studies.
  • Molecular genetics is providing insight into the pathogenesis of disease, e.g., in an inherited colorectal cancer, researchers found defects in a gene prevented a protein product from recognizing and repairing mistakes made during DNA replication.
  • A better understanding of the molecular biology of protein function and drug interactions will facilitate drug development.

Developments in Technology
  • Emerging genetic technologies for use in clinical practice include chip-based testing, micro-arrays, and high-pressure liquid chromotography. Future improved screening methods will be available for all known mutations.
  • Someday, DNA chips will generate customized risk analyses with the ability to test for many genes, independent of an individual's ethnicity.
  • Microsatellite Instability Testing (MSI) is a testing strategy for genes in tumor tissue. If the test is positive, then DNA is tested for mutations. If a mutation is found, testing may be offered to other family members.

Emerging Field of Genetic Medicine


  • Genetic information can be used to identify people susceptible to specific diseases so that medical, behavioral, or environmental interventions can be used to reduce the likelihood of developing disease.
  • Genetic screening for disease prevention must address informed decision-making by consumers, determination of the health benefits of taking the test, test quality, and ability to interpret test results.
  • Before offering widespread testing, health professionals will need to address the psychosocial issues of testing asymptomatic people.


  • Identifying subsets of particular diseases on the basis of genetic information promises to lead to more effective therapeutic regimens for populations with those subtypes.
  • New approaches in the development of vaccines and drugs will lead to interventions that more effectively reduce the health impact of environmental and biological exposures.
  • New technologies and clinical trials will be costly. Society and industry face difficult choices when balancing patient demand with the cost of research and development.

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  • Additional information for Public Health Genomics is available on our contact page. The U.S. Government's Official Web PortalDepartment of Health and Human Services
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