Genomics, Health Care, and Society

Genetic tests are growing in number and in clinical relevance as a result of rapid advances in genomic technologies. The widespread availability of genomic data from individuals has raised concerns over privacy issues and controversy over possible misuse of genomic data. This review describes broad issues raised by genetic technologies and information and discusses evolving policies for regulating genetic and genomic research and integrating of genetics into clinical care. The storage of biologic specimens collected from patients has engendered long-standing controversy about patient consent to allow access to their samples or data for future research, typically unanticipated at the time of specimen collection. Recent proposed regulations by the Department of Health and Human Services address both patient consent and institutional review of the research use of biospecimens. The United States Congress enacted the Clinical Laboratory Improvement Amendments in 1988 to regulate medical-testing laboratories at a time when genetic testing of a patient’s genome to diagnose a disease was not anticipated. Although the Food and Drug Administration has the legal authority to regulate laboratory-developed tests, including genetic tests, relatively few genetic tests have been regulated. To correct this oversight, the Food and Drug Administration intends to begin risk-based oversight of laboratory-developed genetic tests. Pharmacogenomic testing is a specific form of genetic testing in which the genetic profile of an individual can be used to predict the occurrence of toxicity as well as efficacy of specific drugs. Genomic research can also be used to identify promising targets for new and existing drugs. Other technologic advances that have provided great benefits yet also raised concerns, include the use of electronic medical records. Although well established in some large health care systems, the ease of transfer of information across electronic databases has raised concern for increased risk of unauthorized access and misuse of such information. The privacy rule in the Health Insurance Portability and Accountability Act did not explicitly provide privacy protections for genetic information. Genetic testing raises the potential for a new form of discrimination. The Genetic Information Nondiscrimination Act of 2008 (GINA) and additional proposed legislative changes require that Department of Health and Human Services amend the Health Insurance Portability and Accountability Act privacy rules to protect individual privacy and prevent discriminatory use of genomic data for underwriting in health insurance and for hiring decisions by employers. In the United States’ criminal justice system, DNA has been collected and used as an aid in obtaining convictions, as well as to exonerate wrongly convicted individuals. The use of DNA in the law enforcement has raised concerns about privacy and a possible racially disproportional effect of using this evidence. A court ruling in 1980 that an engineered microorganism was patentable, led to a 30-year explosion in research and methods in biotechnology, especially in sequencing and genetic testing. There is considerable controversy on the patentability of engineered DNA and RNA sequences developed for diagnostic and therapeutic purposes. A number of US courts have issued additional rulings on this issue. The final court ruling on a current lawsuit could have major effects on innovation, investment, and access to patents, with major implications for research, the biotechnology industry, and medicine. The author of this report concludes that the current challenge is to foster innovation and discovery leading to improved clinical care by allowing broad access to genomic information, while developing policies that protect individual privacy and respect research participants and patients.