U.K. Human Genetics Commission Proposes Principles for DTC Genetic Testing Services
Last month, the Human Genetics Commission, the U.K. government’s genetics advisory body, issued for public comment a “Common Framework of Principles” for direct-to-consumer (DTC) genetic testing services. The Principles are derived from earlier reports by the Commission (Genes Direct (2003) (pdf) and More Genes Direct (2007) (pdf)) and seek to:
…promote high standards and consistency in the provision of direct-to-consumer genetic tests among commercial providers at an international level in order to protect the interests of people seeking genetic tests and their families.
The Principles, which are ambitious in scope and detailed in their recommendations, represent an important next step in the ongoing debate over the appropriate level of oversight for the emerging DTC genetic testing industry.
Published in draft form, the Principles provide ample room for analysis, and companies and consumers are invited to provide responses and comments until December 6th, 2009.
In this post we take a close look at the draft Principles and summarize the core values and goals that appear to underlie these recommendations.
The Scientific Foundation for Personal Genomics: Recommendations from the Joint NIH-CDC Workshop
Last December, some of the true heavyweights in the field of personal genomics convened for a two-day workshop cosponsored by the CDC and NIH to review the science and implementation of personal genomics. Participants included scientific luminaries (e.g., Francis Collins, George Church and Bob Green), personal genomics companies (e.g., 23andMe, Knome, Navigenics, deCODE Genetics and DNA Direct) and policy groups (e.g., Genetic Alliance, Personalized Medicine Coalition and Genetics and Public Policy Center). The workshop and its participants’ recommendations were summarized (pdf) late last month in the journal Genetics in Medicine.
The workshop focused on a review of the “scientific foundation for using personal genomics in risk assessment and disease prevention,” developing five specific recommendations for the future development and use of personal genomics.
1. Develop and implement scientific standards for personal genomics. Of primary importance was the development of scientific benchmarks for evaluating personal genomics testing. Heavily emphasized was the need to establish standards for measuring the clinical validity (how well a genetic variant identifies or predicts an individual’s clinical status) and clinical utility (the health and other benefits of a test balanced against its harms or costs) of personal genomics tests. The importance of voluntary industry guidelines (pdf), randomized clinical trials and economic analysis of personal genomics testing were all discussed.
Is the ACCP’s Call for Greater Governmental Regulation of DTC Genetics Premature?
Another player has entered the debate over direct-to-consumer (DTC) genetic testing and come down on the side of greater regulation. In a position statement authored by Barbara Ameer and Norberto Krivoy (pdf), the American College of Clinical Pharmacology (ACCP) proposes greater regulation of laboratory genetic tests generally, DTC advertising of genetic tests, and communication to consumers of genetic test results.
The ACCP’s position paper faults a number of features of the current regime: (i) the FDA does not require premarket review of laboratory-developed tests; (ii) even if conducted in CLIA certified laboratories, the clinical validity of laboratory-developed tests (which includes most DTC genetic testing) is not regulated; (iii) there is no regulatory oversight system for advertising of DTC genetic tests; and (iv) the communication of DTC test results is not mediated through a trained clinician. The ACCP fears that consumers are insufficiently protected in the current unregulated environment, with the result that “at a population level, these collective [negative] experiences may give future genetic testing a poor reputation, and it consequently may not be trusted by consumers.” The ACCP further cautions that the “inequitable regulatory policy regarding laboratory-developed tests [may stifle] innovation in the creation of validated genetic tests.” The position paper does not state, or offer any data suggesting, that any such stigma currently attaches to genetic testing or that innovation is being stifled.
