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Health Issues in Genetics

Genetic research is designed to advance our understanding of the human genome and the role of individual genes or groups of genes in human health. However, beyond the hoped-for improvements in the medical profession's ability to treat and cure diseases, genetic research raises questions concerning how the information and technologies it yields will affect standards of patient care.

Genetic testing and counseling, as well as gene therapy, raise difficult questions. Should physicians and health counselors, for example, tell patients that they might be at high risk for developing an illness because of their genetic makeup when there is no effective treatment or cure for that disease now? Should health care practitioners perform genetic testing of an unborn fetus when the results might lead its parents to abort the pregnancy? Does the nature of genetic information create a need to revisit issues of informed consent and other ethical questions in the use of human subjects in genetics research? And how can the biomedical community use genetic information to improve standards of patient care?

The National Human Genome Research Institute (NHGRI) supports highly technical genetic research that is rapidly advancing our understanding of the human genome. This new information, although potentially beneficial to the health of Americans, can also be misused. The insights gained through the Ethical, Legal and Social Implications (ELSI) Research Program inform the development of federal guidelines, regulations and legislation to guard against misuse of genetic information.

Health Issues Areas

• The Future of Genomic Medicine: Policy Implications for Research and Medicine
  A roundtable of 19 representatives from government, research, advocacy, health care, insurance, industry, and academia held in November 2005 to examine core policy issues regarding the expanding knowledge of human genomics and translation of this information into improved health care.
  
  
• Personalized Medicine: How the Human Genome Era Will Usher in a Health Care Revolution
  Personalized medicine has the potential to transform healthcare through earlier diagnosis, more effective prevention and treatment of disease, and avoidance of drug side effects.
  
  
• NHGRI Director Speaks at Personalized Medicine Briefing
  
  
• Personalized Medicine: From Promise to Practice
  Keynote address by Dr. Francis Collins for Research!America's Personalized Medicine event, held at The George Washington University, Washington D.C. on September 19, 2006
  
  To view this video, you will need the latest version of RealPlayer.
  
  
• Direct to Consumer Marketing of Genetic Tests
  Marketing tests directly to consumers through print and television advertisements may increase public awareness but there may be some risks in adopting this strategy.
  
  
• GAO Concludes DTC Genetic Tests Mislead Consumers
  A Government Accountability Study (GAO) study concludes that direct-to-consumer genetic tests pass on "misleading" information.
  
  
• FDA Issues Guidance On "Home Brew" and In Vitro Tests
  Two guidances illustrate FDA efforts to be mindful of the increase in "home brew" tests.
• Genetic Testing
  Issues related to the use of genetic technologies to test and counsel individuals and families regarding their risk of certain diseases.
  • Task Force Recommends Against Routine Testing for Genetic Risk of Breast or Ovarian Cancer in the General Population
    
    
  • Read the Recommendation: Genetic Risk Assessment and BRCA Mutation Testing for Breast and Ovarian Cancer Susceptibility U.S. Preventive Services Task Force, September 2005
    
    
• Informed Consent
  Examines whether new requirements for informed consent are needed to protect subjects in research studies on the human genome.

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  Last Reviewed: November 12, 2008