In May 2004 the Joint Committee on Medical Genetics commissioned this UK-wide needs assessment and service review for inherited metabolic disease. The work was supported with a grant from the Department of Health and was a major part of the Public Health Genetics Unit 2004/05 work programme. It was lead by Hilary Burton, Consultant in Public Health at the Public Health Genetics Unit, Cambridge and involved a stakeholder group of specialists in the inherited metabolic disease services, commissioners, and voluntary organisations.
Documents
The report is available both as an overview with recommendations, and as a full report including the evidence chapter and appendices. Individual chapters and appendices are also available as follows:
Overview and recommendations
Epidemiology
Effectiveness and quality
Review of laboratory services
Survey of inherited metabolic disease services
Services for patients with porphyria
Nursing services
Dietitian services
Voluntary organisations
Specialist commissioning
Conclusion: quality revisited
Appendices
The work is also supported by a slideshow. A set of powerpoint slides can be made available on request.
Please address all further requests for the document, use of slides and further questions to Dr Hilary Burton
Beginning in January 2004 , this programme brought together a Steering Group of professionals from a wide sphere with a particular interest in learning disability. The Steering Group included experts in laboratory testing, clinical management in the genetics department and in paediatric and adult learning disability settings, leaders from voluntary organisations, together with PHGU epidemiology, public health in paediatrics laboratory testing, and clinical genetics.
Documents
List of participants:
Learning disability Steering Group
Background paper:
A descriptive summary of the epidemiological and molecular characteristics of learning disability
Technology report:
Summary of the technology development aspects of the learning disability project
Parents as Partners report:
A report and guidelines on the investigation of children with developmental delay; by parents, for professionals
Information leaflet:
Parents' guide to the investigation of children with developmental delay
Investigative guidelines for professionals:
A guide to the investigation of children with developmental delay in East Anglia (guidelines)
Evidence document:
A guide to the investigation of children with developmental delay in East Anglia (evidence)
Contact for this work: Dr Hilary Burton
The main objective of this expert workshop held in London on 14th February 2006 was to bring together professionals with an interest in the diagnosis of HNPCC (including molecular and clinical geneticists, pathologists, colorectal surgeons and policy experts), in order to evaluate current evidence for and against different approaches, and move towards development of a consensus optimal strategy for national implementation. The report includes ten key recommendations developed by the workshop steering group based on these proceedings that can be used to create new UK health service guidance on molecular screening of tumours for familial colorectal cancer.
Documents
Brice P. Executive summary of the above report
Together with clinical and laboratory colleagues, we undertook a project to evaluate the use of array CGH in the determination of chromosomal abnormalities in clinical practice, using learning disability as an initial paradigm. As part of the work we performed a systematic evaluation of the use of array CGH for the diagnosis of previously known and unknown abnormalities.
Documents
Burton S, Brice P, Sanderson S, Iyer S, Higgins J, Sagoo G. Evaluation of the use of array comparative genomic hybridisation in the diagnosis of learning disability
Contacts for this work: Hilary Burton, Simon Sanderson, Philippa Brice
A workshop was held in London on 9th March 2004 to evaluate the current status of the cancer genomics field, to identify those areas closest to clinical implementation and to consider progress and potential barriers to the successful translation of this technology into clinical practice in the NHS. The workshop brought together scientific and clinical experts in cancer genomics and oncology with policy makers and others including representatives from the Department of Health and other funding bodies, and the UK Genetics Knowledge Parks.
Cancer therapeutics in the 'omics' era (Executive summary - PDF)Cancer therapeutics in the 'omics' era (Full workshop report - PDF)
In collaboration with colleagues at Southampton University, we were awarded a grant by the NHS Health Technology Assessment programme to evaluate the use of genetic tests in haemochromatosis. This project includes both a systematic review and an economic model for comparing different options for testing.
Documents
Sanderson S, Zimmern R, Kroese M, Higgins J, Patch C, Emery J. How can the evaluation of genetic tests be enhanced? Lessons learned from the ACCE framework and evaluating genetic tests in the United Kingdom. Genetics in Medicine 2005; 7: 495-500
Kroese, M., Zimmern, R. and Sanderson, S. (2004) Genetic tests and their evaluation: can we answer the key questions? Genetics in Medicine 6, 475-80
Burke, W and Zimmern, R (2004) Ensuring the appropriate use of genetic tests. Nat Rev Genet 5, 955-8
Contacts for this work: Ron Zimmern, Mark Kroese, Simon Sanderson