Alex Padilla

California state Senator Alex Padilla (D-San Fernando Valley) recently introduced SB 482, a bill to amend the California Business and Professions Code to address entities providing personal genome services. As amended on April 14, the bill would define a new category of business, one that provides “post-CLIA bioinformatics services,” and exempt such businesses from requirements applicable to traditional clinical laboratory service providers. The bill also would specify the requirements under which such entities can operate within California.

The bill is sponsored by the California-based personal genome services provider 23andMe. It follows actions last year by the California Department of Public Health (CDPH), which sent letters to 12 businesses offering direct-to-consumer (DTC) genetic testing, including 23andMe, ordering them to stop selling tests in the state until they demonstrated compliance with state and federal regulations. The relevant federal law is the Clinical Laboratory Improvement Amendments (CLIA), whose requirements are implemented and enforced by the states. The CDPH letters stated that the companies must have a California license and a CLIA certificate to operate, may not provide tests without a physician order, and must comply with California laws regarding test performance requirements. In August 2008 the CDPH granted 23andMe a license to operate as a clinical laboratory in the state.

The bill defines post-CLIA bioinformatics services as “the postproduction interpretation, by means of an algorithm, of biological data.” This definition is intended to distinguish entities that provide only interpretation from clinical testing laboratories that are subject to CLIA. The term algorithm is defined as “a set of calculations, computations, rules, or other bioinformatics processes transparently based on peer reviewed, published scientific literature and publicly available data that is performed upon a customer’s biological data set.”

The legislative findings of the bill indicate an intent to remove regulatory barriers to operation for companies providing personal genome services: “By defining and regulating the distinct role of postproduction data interpretation, the state intends to promote flexibility and innovation in the development of methods to interpret individuals’ biological profiles in the context of personalized medicine.” The findings state that allowing individuals to access their personal biological data “can also offer research and educational opportunities, since an active, personal stake can promote scientific literacy and a new research model that actively engages with consumers.” In order to achieve these goals, the findings continue, “it is necessary for entities providing postproduction interpretation of biological data to be regulated in a different way than are those entities providing traditional laboratory functions.”

If enacted, the bill clearly would exempt companies providing post-CLIA bioinformatics services from state licensing laws and other requirements applicable to clinical laboratories. In particular, the law would exempt such entities from state restrictions on DTC laboratory testing. Under existing law, DTC laboratory services may be provided only for a limited number of tests, such as glucose and pregnancy tests. Otherwise, a laboratory may perform a test only if ordered by an authorized health care provider and may return results only to the provider.

The bill also would, for the first time, set operating standards for an emerging type of service provider that currently is subject to minimal oversight by federal and most state regulators. The bill would require companies providing post-CLIA bioinformatics services to use a licensed clinical laboratory for analysis of customer samples, and to disclose the CLIA status of any laboratories with which it has a contractual relationship to its customers. The bill would also require such entities to employ an individual to approve algorithms and associated documentation used in providing interpretive services and to answer questions about the algorithms. This individual would have to have a Ph.D. or master’s degree in bioinformatics, statistical genetics, biostatistics, or statistics with a biological or medical specialization. The company also would be required annually to provide to the CDPH a “transparent description of the validity of biological data sets and how to perform the algorithm on biological data sets.” As is the case currently, no government regulatory body would be required to review the algorithm before it could be used to provide interpretive services to consumers.

The bill also would set standards relating to privacy of consumer information. It would require entities providing post-CLIA bioinformatics services to delete all links between the customer’s biological data and his or her individually identifiable data if requested by the customer. It also would require entities to “take all reasonable steps to prevent the release of individually identifiable information without explicit consent from a customer.”

In addition, the bill would require companies to obtain informed consent before performing services, including consent to use customers’ de-identified data sets for research purposes. Customers must consent to participate in research as a condition of receiving 23andMe’s services. As is the case currently, companies would not be required to obtain the approval of Institutional Review Board (IRB) before carrying out research using consumers’ biological data.

A number of consumer and privacy groups, including the World Privacy Forum, the Privacy Rights Clearinghouse, and the American Civil Liberties Union, have raised concerns about SB 482, including whether the bill adequately will protect the privacy of genetic and other health-related information that customers provide to the companies, whether it is ethical to require participation in research as a condition of receiving personal genome services, and whether the claims made by such companies regarding the relationship between individual genetic variations and disease risk are subject to adequate review to ensure they are supported by adequate scientific evidence.

The bill has been referred to the Senate Judiciary Committee.