Bourque, Callier, and Lovitch on Issues and Trends in the Regulation of Genetic Testing

Genetic tests are available for an estimated 1300 genes, and many more tests are currently in development. Legislators and regulatory agencies, however, have begun to take action to improve industry oversight and to ensure proper safeguards are in place to protect patients. This article examines issues and trends in the regulation of genetic testing.
Genetic testing involves the analysis of human DNA, RNA, chromosomes, proteins, or certain metabolites to detect alterations related to an inherited condition. Although genetic testing shares some features in common with other types of laboratory testing, it nevertheless requires special considerations. Federal and state lawmakers have articulated the link between safe and effective genetic testing and personalized medicine.
This article first discusses the degree and type of government oversight, by Federal and state authorities, of companies that are engaged in the genetic testing industry. Both the Centers for Medicare & Medicaid Services (CMS) and the Food and Drug Administration (FDA) have oversight responsibilities, and the authors point out the possible overlap between CMS and FDA. Some states have licensure and enforcement responsibilities as well, and the article examines in particular the law of New York and Massachusetts.
The article also examines the issues of privacy and discrimination. The privacy rights of the patient are important, and test results may only be released to the appropriate persons and entities. Jurisdictions may require that genetic testing can only be done if the patient has given consent to such testing. Governmental authorities have also moved to prohibit discrimination by health insurers and employers that is based upon genetic information.
The authors have found that the Federal government and the states are making progress in regulating genetic testing. “Although the Federal and state governments have struggled to keep pace with advancements in genetic testing, a number of positive statutory and regulatory developments have recently taken place. In 2008 alone, Congress passed legislation to prevent genetic discrimination; state officials questioned the practices of some DTC genetic testing companies; and CMS and the FDA have begun to articulate their plans for closing the gaps in the oversight of genetic testing. Laboratories, physicians, patients, and other stakeholders can expect further developments in the coming years and months.”