The science of genomics holds great promise, but a new report commissioned by the California HealthCare Foundation (CHCF) makes clear that individuals cannot be assured their genetic information will be kept confidential.

"While the United States has invested millions of dollars to promote genetic research, including the sequencing of the human genome, the federal government has yet to develop a clear policy about the collection, use, storage, and protection of genetic information," according to Sam Karp, who directs CHCF's Internet Health and Technology program and its Health Privacy Initiative. "The result is a patchwork of protections that leaves individuals and families vulnerable."

The need for nationwide safeguards of workers' genetic information was underscored May 7 with the settlement of the federal government's first case against workplace DNA discrimination. Burlington Northern Santa Fe Corp agreed to pay $2.2 million to settle charges of illegally testing workers for genetic defects.

The report, prepared for CHCF by the Georgetown University Health Privacy Project, provides an overview of the current state of genetic testing and examines gaps in legal protections that safeguard genetic information. It identifies five major gaps in national policy that leave genetic information exposed to potential misuse:

1. Genetic source materials (tissue, blood, or any other bodily source of a person's genetic information) need protections.
2. Many key entities that potentially obtain and use genetic information are not included under the federal Health Insurance Portability and Accountability Act (HIPAA) privacy regulation, the first federal law to protect health information created or received by private health care providers and health plans.
3. Certain HIPAA privacy regulation provisions are too permissive, including health-related marketing using protected health information and access to protected health information by law enforcement officials.
4. Private right of action is needed for individuals whose rights have been violated.
5. Web-based information is vulnerable.

"Genetic-related advances in medicine will not occur if individuals are afraid to provide their genetic information to scientists for research purposes," says Joanne Hustead, J.D., who along with Aimee Cunningham and Janlori Goldman authored the report. Genetic information reveals unique attributes about individuals, some of which are shared by family members.

The full report, Genetics and Privacy: A Patchwork of Protections, is available for download through the link below. It includes a primer on genetic testing, an analysis of current legal protections, an examination of genetics and Internet privacy, and steps for closing the gaps around the five major national policy gaps.

The California HealthCare Foundation (CHCF) is an independent philanthropy committed to improving California's health care delivery and financing systems. Through its Health Privacy Initiative, CHCF has supported a number of efforts aimed at protecting the confidentiality and security of health information, including monitoring HIPAA implementation and helping organizations understand its requirements. Recent publications include Implementing the Federal Health Privacy Rule in California and HIPAA Administrative Simplification: Tool Kit for Small Group and Safety-Net Providers, available for download online.

Founded in 1997, the Health Privacy Project at Georgetown University provides a broad array of healthcare stakeholders with the information and tools they need to work more effectively toward greater protection of health information through cutting-edge research studies, policy analyses, Congressional testimony, extensive work with the media, and a Web site.