US report calls for increased oversight of genetic testing

8 November 2007

The US Secretary’s Advisory Committee on Genetics, Health, and Society (SACGHS) has released a draft report for the Secretary of Health and Human Services (HHS) on the assessment and regulation of genetic testing, and is inviting public comments on the report.

The report is the result of an enquiry that began in March 2007 to determine “the steps needed for evidence development and oversight for genetic and genomic tests, with improvement of health quality as the primary goal”, in particular to assess how far the validity, interpretation and utility of such tests for clinical and personal decision-making was being checked, and to assess whether there were gaps in the current system of oversight that might result in harms to public health. At the same time, the HHS launched the Personalized Health Care Initiative, a scheme intended to advance the integration of genomic technologies that are capable of tailoring preventative strategies and interventions to “each patient’s unique genetic characteristics and individual needs into general”.

The main recommendation of the report is that the HHS should “enhance interagency coordination of the activities associated with the oversight of genetic testing, including policy and resource development, education, regulation, and knowledge generation”.

The enquiry found that current oversight of genetic testing in the US is patchy, provided by different government agencies, professional associations, health insurers and other groups (or not at all) for different sorts of test. The report notes the increasing levels of direct-to-consumer advertising of genetic tests, combined with very limited access to genetics expertise for patients as well as consumers in general, calling for increased provision of trained genetics advisers. The report also noted a lack of evidence on the clinical utility of genetic tests, and called for the HHS to fund such assessments and develop clinical guidelines for the use of such tests, building on the CDC’s Evaluation of Genomic Applications in Practice and Prevention (EGAPP) initiative (see previous news). Insurance companies were noted to typically require such evidence before agreeing to cover the cost of testing.

The draft report concludes that increased regulation of genetic testing is required, especially since more recent applications such as nutrigenomic tests and fetal gender testing are "skirting the boundaries" of current regulation; it calls for expansion of the Clinical Laboratories Improvement Amendments of 1988 to include more provision of expert assessment and proficiency testing for genetic tests. It also says that other government agencies including the Centers for Disease Control and Prevention and the Food and Drug Administration should increase scrutiny of laboratories, working in partnership with private companies, and take action against any that make misleading claims for genetic tests. A voluntary system of genetic test registration through a public-private partnership is proposed, expanding the current GeneTests system (a publicly funded medical genetics information resource for healthcare providers) to include broader genomic applications such as pharmacogenomic tests, with ongoing assessment of compliance with this system and a move to mandatory registration if necessary.

Comments on the report can be made at a SACGHS meeting on November 19-20 or submitted via email; the consultation period closes on 21 December. Input is specifically requested on whether the draft report adequately fulfils the committee’s original brief, whether it proposes adequate measures to improve the current regulatory system for genetic tests, and whether it adequately anticipates future developments in genetics and genomics.

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