Reports
You can access all of our work below. Use the tabs to view our: Published reports, Academic papers and Consultation responses.
Click on the title of an item to go to the page for that piece of work, where you can read a description of the work, download a free PDF or order a print copy where available.
The work listed here includes both PHG Foundation work and the key outputs from the ten years of the Public Health Genetics Unit (PHGU), the publicly-funded organisation that the PHG Foundation grew out of (for more information about our history see here).
For highlights of our recent work click here.
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2011
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Reports
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2010
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Reports
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2009
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Reports
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A review of our work during 2009 and our vision for the future.
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A needs assessment and review of current services.
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The final report from a needs assessment and review of current clinical services in the UK for patients with inherited cardiovascular conditions and their families.
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Report of the UK expert working group.
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2008
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Reports
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This 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.
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A needs assessment and review of specialist services for genetic eye disorders.
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Summary of a diagnostic summit, 14-15 January 2008. The objective of the meeting was to agree a set of recommendations for the evaluation and regulation of clinical laboratory tests and complex biomarkers.
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2007
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Reports
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This 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 OECD.
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This report, produced by the Public Health Genetics Unit (now the PHG Foundation), is the result of an independent, epidemiological project designed to investigate the risks associated with having a family history of a number of common diseases.
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This paper proposes an approach to the evaluation of genetic tests that expands on and moves beyond the ACCE framework.
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2006
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Reports
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An assessment of the 2004 Act, and its implications for the specialties of clinical and laboratory genetics.
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Using learning disability as an initial paradigm. Includes a systematic evaluation of the use of array CGH for the diagnosis of previously known and unknown abnormalities.
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This project includes a survey of the epidemiological and molecular characteristics of learning disability and guidelines for both parents and clinicians on the investigation of children with developmental delay.
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Report and recommendations of an expert workshop held on 14 February 2006.
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A briefing paper outlining the ethical and regulatory issues around stem cell research and therapy, and summarising the current UK policy postion.
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2005
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Reports
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A UK-wide needs assessment and service review for inherited metabolic disease.
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2004
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Reports
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Report of a workshop on genomic approaches to cancer care held in London on 9th March 2004.
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2003
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Reports
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The report, published in July 2003, outlines then-current IPR legislation, discusses other relevant issues such as human rights, looks at the balance between industry and the healthcare sector and identifies the main issues of contention.
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Information policy for pharmacogenetics. There is a page devoted to this report on the University of Cambridge's Department of Public Health and Primary Care website.
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2001
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Reports
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Report of a workshop held in London on 27 April 2001 to discuss research on the health-economic consequences of advances in genetic science, and the implications for the planning and development of health services.
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2000
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Reports
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Genetics and health - Nuffield Trust Genetics Scenario Project report - Published in May 2000.
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