List of completed projects and reports

• Genetic ophthalmology in focus
  A needs assessment and review of specialist services for genetic eye disorders by Tony Moore and Hilary Burton
  
  
  
• The evaluation of diagnostic laboratory tests and complex biomarkers
  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.
  
  
  
• Evidence and evaluation: Building public trust in genetic tests for common diseases
  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.
  

• The evaluation of clinical validity and clinical utility of genetic tests
  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 26-27^th June 2006, under the auspices of the Organisation for Economic Cooperation and Development (OECD).
  
  
  
• Family history as a risk factor for common, complex disease
  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.
  Click here for further information on this report, or to download an Executive Summary
  
  

• Moving Beyond ACCE: An Expanded Framework for Genetic Test Evaluation
  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..
  

• Assessment of the Human Tissue Act
  An assessment of the 2004 Act, and its implications for the specialties of clinical and laboratory genetics.
  
  

• Evaluation of array-CGH for chromosomal abnormalities in clinical practice
  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.

  
  
• Learning disability: the interface with genetics
  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.
  
  
• Biomarkers in familial colorectal cancer screening
  Report and recommendations of an expert workshop held on 14 February 2006
  
  
• Ethical legal and social issues in stem cell research and therapy - 2nd edition
  A briefing paper outlining the ethical and regulatory issues around stem cell research and therapy, and summarising the current UK policy postion.

• Metabolic Pathways: Networks of Care
  A UK-wide needs assessment and service review for inherited metabolic disease.

• Cancer therapeutics in the 'omics' era: moving towards practical application in the NHS
  Report of a workshop on genomic approaches to cancer care held in London on 9th March 2004.
  
  
• An evaluation of genetic testing
  This project includes both a systematic review and an economic model for comparing different options for testing.

• Education in genetics for health professionals - Addressing Genetics, Delivering Health
  This project was commissioned by the Department of Health and The Wellcome Trust in order to develop a national strategy for the education of health professionals in genetics.
  
  
• Intellectual property rights and genetics
  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.
  
  
• Pharmacogenetics - My Very Own Medicine
  
  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 here: http://www.phpc.cam.ac.uk/epg/IPP.html.

• Genetics and health economics workshops
  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.