Genetic Disorders, Genomics and Healthcare

Issues in Genetics and Health

Genomics is the study of an organism's whole hereditary information that is present in its genes (DNA) and the use of its genes. It deals with the use of genome information associated with other information to provide answers in biology and medicine.

Genomic research may greatly change the practice of health care. But genomic research alone is not enough to apply this new knowledge to improving human health. We need to carefully study the many ethical, legal and social issues raised by this research. Such study is crucial to being able to use genomic research to help patients and to preventing misuse of new genetic technologies and information.

Ethical, legal and social issues raised by genomic research include:

  • Possible discrimination by employers or health insurers
  • The need for ethical standards for work with human research subjects or tissues
  • Consideration of social, cultural and religious perspectives on genetics and health

Controversial issues such as cloning, stem cell research and eugenics also need to be carefully studied.

Since the beginning of the Human Genome Project, the National Human Genome Research Institute (NHGRI) has understood the need to address these issues as part of advancing the science of genomic research. We have an Ethical, Legal and Social Implications (ELSI) program, which is the federal government's largest funding source for study of these issues. Within NHGRI, the Division of Policy, Communications, and Education (DPCE) examines the intersection of ELSI issues with legislative policy and provides recommendations for federal policy and legislation. NHGRI also works to increase public awareness of ELSI issues in genomic research.

To learn more about ethics and policy topics and other resources for more information, follow these links to the Policy and Ethics section of this website.

Genetic Discrimination

  • Overview
  • The Genetic Information Nondiscrimination Act of 2008 (GINA)
  • Genetic Discriminationand Other Laws
  • Legislative History of GINA
  • Statutes, Regulations and Congressional Reports
  • President, HHS, NIH and NHGRI Statements on Genetic Discrimination
  • Reports on Genetic Discrimination

Intellectual Property and Genomics

  • Overview
  • Background
  • NHGRI and Patent Policy
  • The Courts and Gene Patents
  • Other Concerns and Activities
  • Reports and Policies

Regulation of Genetic Tests

  • Overview
  • Introduction to Genetic Testing
  • Federal Regulation of Genetic Testing
  • FDA Plans to Regulation LDTs
  • Genetic Testing and Regulation Reports
  • Administration Statements
  • Congressional Activity
  • Genetic Testing Resources

Health Issues in Genetics

  • Personalized Medicine
  • Direct to Consumer Marketing of Genetic Tests
  • Genetic Testing and Counseling
  • Informed Consent

Where can I get more information?

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Last Updated: October 31, 2013