Our reports

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.


2013 Reports
By Alison Hall, Dr Nina Hallowell and Dr Ron Zimmern
By Dr Louise Aston and Dr Mark Kroese
2012 Reports
By Dr Hilary Burton, Dr Trevor Cole and Prof Peter Farndon
2011 Reports
By Dr Alex Broadbent
By Dr Caroline Wright, Dr Hilary Burton, Alison Hall, Dr Sowmiya Moorthie, Dr Anna Pokorska-Bocci, Dr Gurdeep Sagoo, Dr Simon Sanderson and Dr Rosalind Skinner
By Dr Caroline Wright and Tom Dent
By Dr Hilary Burton
2010 Reports
By Alison Hall
By Dr Hilary Burton and Dr Sowmiya Moorthie
By Corinna Alberg, Dr Hilary Burton, Alison Hall, Dr Caroline Wright and Dr Ron Zimmern
By Tom Dent
2009 Reports
A review of our work during 2009 and our vision for the future.
By Dr Hilary Burton, Sara Levene, Corinna Alberg and Dr Alison Stewart
A needs assessment and review of current services.
By Dr Hilary Burton, Corinna Alberg and Dr Alison Stewart
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.
By Dr Caroline Wright, Alison Hall, Adam Bostanci and Dr Stephen John
Report of the UK expert working group.
2008 Reports
By Professor David Melzer, Stuart Hogarth, Dr Kathy Liddell, Professor Tom Ling, Dr Simon Sanderson and Dr Ron Zimmern
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.
By Dr Hilary Burton and Tony Moore
A needs assessment and review of specialist services for genetic eye disorders.
By Professor Peter Furness, Dr Ron Zimmern, Dr Caroline Wright and Dr Maria Adams
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.
2007 Reports
By Dr Mark Kroese, Dr Rob Elles and Dr Ron Zimmern
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.
By Dr Adam Butterworth
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.
By Dr Wylie Burke and Dr Ron Zimmern
This paper proposes an approach to the evaluation of genetic tests that expands on and moves beyond the ACCE framework.
2006 Reports
By Alison Hall, Anneke Lucassen, Gail Norbury, Heather Skirton, Alastair Kent and John Crolla
An assessment of the 2004 Act, and its implications for the specialties of clinical and laboratory genetics.
By Dr Hilary Burton, Dr Philippa Brice, Dr Simon Sanderson and Dr Gurdeep Sagoo
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.
By Dr Hilary Burton
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.
By Dr Philippa Brice
Report and recommendations of an expert workshop held on 14 February 2006.
A briefing paper outlining the ethical and regulatory issues around stem cell research and therapy, and summarising the current UK policy postion.
2005 Reports
By Dr Hilary Burton
A UK-wide needs assessment and service review for inherited metabolic disease.
2004 Reports
By Dr Ron Zimmern, Dr Mark Kroese and Dr Simon Sanderson
By Dr Philippa Brice
Report of a workshop on genomic approaches to cancer care held in London on 9th March 2004.
2003 Reports
By Dr Hilary Burton
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.
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.
2001 Reports
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.
2000 Reports
Genetics and health - Nuffield Trust Genetics Scenario Project report - Published in May 2000.