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The Secretary’s Advisory Committee on Genetics, Health and Society (SACGHS) has released a report on the US System of Oversight of Genetic Testing. This report follows a year of work, commissioned by the US Department of Health and Human Services (HHS) in March 2007, investigating the adequacy and transparency of the current oversight system for genetic testing.

 

The purpose of oversight for laboratory testing is to maximise the health benefits whilst minimising the risk of harms from testing. The report distinguishes three main elements of oversight that the Committee regards as essential:

(1)   information development and synthesis, i.e. data gathering and interpretation

(2)   standard-setting, for analytical and clinical performance as well as safety and effectiveness

(3)   compliance mechanisms, including mandatory compliance that is legally enforceable under law, incentive-driven compliance that is supported by financial or legal incentives rather than legally mandated, and informal or voluntary compliance such as self-governance.

 

Included amongst the questions considered by the Committee was the issue of what distinguishes genetic tests from other laboratory tests for the purposes of oversight. The Committee concluded that many of the issues surrounding genetic tests are similar to those of other complex laboratory tests, but that recent advances in genetic technology had confirmed and widened some of the gaps and ambiguities already in existence. Therefore, their most of the recommendations are applicable to the oversight of all clinical laboratory tests.

 

The bulk of the report deals with the existing pathways to examine the analytical validity, clinical validity and clinical utility of genetic tests. The Committee identified gaps in five key areas: regulations governing the laboratory quality; oversight and lack of evidence for clinical validity; lack of information regarding clinical utility; transparency of genetic testing; and educational needs of health professionals and the public. In response to these issues, the Committee made a number of recommendations, which echoed conclusions reached in a number of other reports from around the world, including the European Convention on Human Rights and Biomedicine Report (see previous news story) and the PHG Foundation’s own Diagnostics Summit Report.

 

Most notably, the Committee recommended the establishment of a mandatory web-based test registry of all laboratory tests, funded by the HSS, to enhance transparency and address information gaps in test evaluation. This would contain information regarding the analytical validity, clinical validity and clinical utility of tests. The Committee also recommended that the HHS should create and fund a public-private partnership to evaluate the clinical utility of genetic tests and develop a research agenda to address any knowledge gaps. The criteria for risk stratification of tests should also be examined by a multidisciplinary stakeholder group.

 

The Committee acknowledge that “the translation of genetic tests into clinical practice will rely heavily on preanalytical and postanalytical clinical decision support and research into the impact of genetic information on health care delivery, outcomes and costs.” Although there are numerous difficulties regarding the oversight of genetic testing, a consistent picture is beginning to emerge regarding the importance of a formal system of evaluation, not only to improve the quality and transparency of health care services, but also to ensure patient safety.