2007/08 - Evaluation and regulation of genetic tests and molecular biomarkers
This project builds on our substantial expertise and international reputation as leaders in the area of evaluation and regulation of genetic tests. It includes a number of strands through which we can address all strategic objectives and engage staff and stakeholders from a wide variety of disciplines. It will build on the work of the ophthalmology project and will be linked to the cardiovascular project by contributing understanding on evaluation and regulation of genetics tests in that clinical area.
Project description
- Conceptual issues in the definitions of genetic test and biomarker
- Methodologies for systematic review and meta-analysis of genetic association studies
- Methodologies and frameworks for the evaluation of genetic tests and molecular biomarkers
- Liaison with UKGTN and prioritisation of genetic test evaluation
- International and European regulatory framework and their implications for genetic testing
- Ethical and legal issues in the clinical use of genetic tests and other predictive molecular biomarkers
- Production of e-learning modules for genetic testing
- Working with industrial partners on addressing the second gap in translation for molecular biomarkers
Reports published under this work theme
New publication - 10 March 2008: The evaluation of diagnostic laboratory tests and complex biomarkers
Summary of a diagnostic summit, 14-15 January 2008 by Professor Peter Furness, Ron Zimmern, Caroline Wright and Maria AdamsA Diagnostics Summit was held at the Genome Campus in Hinxton, Cambridge on the 14-15th January 2008, organised by the Royal College of Pathologists (RCPath) and the Foundation for Genomics and Population Health (PHG Foundation). The meeting consisted of invited participants, primarily from the UK, with expertise in diagnostic test evaluation, health technology assessment, healthcare policy and research.
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Presentations from the summit
These are all PDF files: left-click to open in Adobe, or right-click and choose 'Save as' to save to your computer- Diagnostic tests and biomarkers: The public health perspective - Dr Ron Zimmern, Executive Director of the PHG Foundation
- New laboratory investigations: The pathologist's perspective - Professor Peter Furness, Vice-President of the Royal College of Pathology
- Evaluating new laboratory tests in the context of NHS commissioning - Dr Christopher Price, Department of Clinical Biochemistry, University of Oxford
- Lab Tests Online UK ...and the informed patient ...and the informed Dr? - Stephen Halloran, Managing Editor, Lab Tests Online UK
- Evaluation of genetic tests: The experience of the UK Genetic Testing Network - Dr Mark Kroese, Public Health Advisor, UK Genetic Testing Network
- Blood in; Knowledge out - Sir Muir Gray, Chief Knowledge Officer, National Health Service
- NHS pathology IT projects - Dr Rick Jones, Department of Health
New publication - February 2008: Evidence and evaluation: Building public trust in genetic tests for common diseases
Research report by Professor David Melzer, Stuart Hogarth, Kathy Liddell, Professor Tom Ling, Simon Sanderson and Ron ZimmernThis independent academic research report focuses on the factors influencing how new genetic tests for common disease susceptibility enter routine clinical practice, and at the need for appropriate clinical evaluation. It looks in detail at: the generation of evidence on test performance, including incentives for test developers to undertake clinical studies; the evaluation of evidence, including the roles of regulators, reimbursers and professionals; and the dissemination of evidence on each test.
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New publication - 4 December 2007: The evaluation of clinical validity and clinical utility of genetic tests
Summary of an expert workshop, 26 and 27 June 2006 by Mark Kroese, Rob Elles and Ron ZimmernThis report presents a summary of an international expert meeting, The Evaluation of Clinical Validity and Clinical Utility of Genetic Tests, which was held at the Nowgen Centre in Manchester on the 26-27th June 2006, under the auspices of the Organisation for Economic Cooperation and Development (OECD). It was organised in the United Kingdom by the National Genetics Reference Laboratory (Manchester) and the Public Health Genetics Unit. The meeting consisted of invited participants from OECD member countries with experience of genetic test evaluation, health technology assessment, healthcare policy and research. Representatives from a total of 17 member countries were present to share international experience of genetic test evaluation and review current frameworks, mechanisms, and practice. Major methodological and operational issues regarding genetic test evaluations were also identified and explored. The meeting concluded with the development of considerations for policy action
The opinions expressed in this report are the sole responsibility of the authors and do not necessarily reflect those of the OECD or of the governments of its member countries.
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New publication - 19 September 2007: Moving Beyond ACCE: An Expanded Framework for Genetic Test Evaluation
A paper for the United Kingdom Genetic Testing Network by Wylie Burke and Ron Zimmern
This paper proposes an approach to the evaluation of genetic tests that expands on and moves beyond the ACCE framework. It clarifies certain concepts key to the evaluation process, and proposes the use of measures of health quality in the evaluation of a genetic test and associated services. This report is the result of work funded through a Department of Health Visiting Fellowship in Genetics in Healthcare granted to Dr Wylie Burke to work with the Public Health Genetics Unit. It was endorsed by the Steering Group of the UK Genetic Testing Network (UKGTN) at their September 2007 meeting
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New publication - 31 July 2007: HER2 status in breast cancer - an example of pharmacogenetic testing
An overview of HER2 testing for trastuzumab (Herceptin) treatment in breast cancer cases by Mark Kroese, Ron Zimmern and Sarah Pinder: Go to Entrez PubMed referenceAbstract: The development of new drugs and associated pharmacogenetic tests will provide an increasing number of challenges to health care systems. In particular, how to evaluate their benefits, prioritize for commissioning purposes and implement a service to provide them in a timely manner. This paper presents an overview of HER2 testing for trastuzumab (Herceptin) treatment in breast cancer cases. Immunohistochemistry and fluorescence in situ hybridization laboratory techniques are described and their HER2 testing performances are compared. Future options for the national provision of HER2 testing by the National Health Service in the UK are also discussed.
New publication - 5 June 2007: The evaluation of genetic tests
A new review of current practice in genetic test evaluation by PHG Foundation team members Ron Zimmern and Mark Kroese: Go to Entrez PubMed reference
Abstract: Scientific advances in genetics and molecular biology have been very successful in advancing our knowledge of biological mechanisms in health and disease, and in catalysing a variety of technological innovations. The number of genetic tests available has consequently increased exponentially over the last few years. Their development has not been accompanied by processes and systems to evaluate these tests in a proper and formal manner to establish their clinical validity and utility. A framework for the evaluation of genetic tests has been developed. This paper reviews the current practice of genetic test evaluation, highlighting the limitations and future challenges in this area of public health.