Our Work

Promoting genetics in mainstream medicine


New publication - June 2009: Heart to Heart: Inherited Cardiovascular Conditions Services

Heart to Heart: Inherited Cardiovascular Conditions Services is 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. It was funded and produced by the PHG Foundation, in partnership with an expert Working Group that included cardiologists, geneticists, and representatives of patient organizations the Cardiomyopathy Association, CRY, the Marfan Association UK, SADS UK and the British Heart Foundation.

How to reference this report: Heart to Heart: Inherited Cardiovascular Conditions Services - A Needs Assessment and Service Review. Burton H, Alberg C, Stewart A. PHG Foundation (2009). ISBN 978-1-907198-01-4

For further information about the report, please contact Dr Philippa Brice.

For members of the media, quotations and contact details for authors and relevant experts are available; please contact the PHG Foundation press office on 07505092081



Tay Sachs Disease carrier screening in the Ashkenazi Jewish population

Tay Sachs Disease carrier screening in the Ashkenazi Jewish population is the final report from a needs assessment and review of current clinical services in the UK. It was commissioned by the UK Newborn Screening Programme Centre, and produced jointly by staff from the PHG Foundation and the Guy’s and St Thomas’ NHS Trust Clinical Genetics Service, working with a steering group of other experts and patient representatives.

How to reference this report: Tay Sachs Disease carrier screening in the Ashkenazi Jewish population: A needs assessment and review of current services. Burton H, Levene S, Alberg C, Stewart A. PHG Foundation (2009). ISBN 978-1-907198-00-7

For further information about the report, please contact Dr Philippa Brice.

For members of the media, quotations and contact details for authors and relevant experts are available; please contact the PHG Foundation press office on 07505092081.



Cell-free fetal nucleic acids for non-invasive prenatal diagnosis

Cell-free fetal nucleic acids for non-invasive prenatal diagnosis is the result of a project funded and led by the PHG Foundation. An expert Working Group including GPs, obstetricians, midwives, geneticists, NHS commissioners, public health experts, ethicists and patient representatives met over the course of 2008 to consider the use of cell-free fetal nucleic acid technology for non-invasive prenatal diagnosis (NIPD). In addition to the current scientific and clinical status of the technology, they also looked at ethical, social and legal implications, and key issues associated with implementation in the NHS.

This report was presented to the Joint Committee on Medical Genetics (JCMG) of the Royal College of Physicians in January 2009.

How to reference this report: Wright, C. Cell-free fetal nucleic acids for non-invasive prenatal diagnosis, Report of the UK expert working group, PHG Foundation (2009)

Report appendix III: Ethical, legal and social issues associated with the use of cell-free fetal nucleic acids for non-invasive prenatal diagnosis

For further information about the report, please contact Dr Philippa Brice.

For members of the media, full quotes about the report and contact details for selected key members of the working group are available; please contact the PHG Foundation press office on 07505092081.


Genetics in ophthalmology

In 2006 the UK Genetic Testing Network (UKGTN) asked us to participate in a Working Group on Genetics in Ophthalmology to undertake a needs assessment for genetic testing for diseases of the eye.

The work included a review of genetic testing, a service review and consideration of the clinical utility and prioritisation of genetic tests in the context of ophthalmology, in order to provide a concrete example through which generic questions about genetics in mainstream medicine might be addressed.

In addition to the report 'Genetic ophthalmology in focus' we will also be publishing papers on clinical utility in ophthalmology and prioritisation.


Genetic ophthalmology in focus: a needs assessment and review of specialist services for genetic eye disorders

A needs assessment and review of specialist services for genetic eye disorders by Tony Moore and Hilary Burton
Ophthalmology report

This report provides a practical illustration of the opportunities offered both now and in the near future, the ways in which health services need to adapt and develop in order to take advantage of the new science, the opportunities and barriers they face and some of the policy options that will be important in shaping future services.

Although the body of the report is specific to ophthalmology, many general concepts, such as those of clinical utility in genetic testing, problems in developing genetic tests and the work on new technologies are applicable in most clinical areas.

Click on the image or on this link to download a pdf of the full report

Click here for a summary of the report and its conclusions and recommendations

 

Cardiovascular disease - Flagship project

We were approached by clinical geneticists who are concerned about service inequalities, requesting a needs assessment and service review to assist in making recommendations for service development.

The area of cardiovascular disease was chosen because the current Coronary Heart Disease National Service Framework requires cardiac genetics to be delivered across the UK.

This project will focus on the role of genetics in cardiovascular disease and the opportunity will be taken to consider genetic associations in common complex disorders and their public health implications. Cardiovascular genetics will also be used as a test area for development of further regulatory work on consent and access to data. In addition, through the project we will explicitly engage with a wide range of stakeholders including the pharmaceutical industry to enhance our understanding of the general issues concerning them and ways of working with them. Finally, the project will be used to develop exemplars for our educational work.

The project will include:

  • Review of epidemiological evidence
  • Science review and needs assessment for genetics in cardiology
  • Stakeholder engagement
  • Development of clinical guidelines and local networks
  • Social and regulatory work including work on consent, access to data
  • Development of educational resources
Resources
PDF colour leaflet summarising this project: Cardiac Genetics Service Review
Last Updated: 6 March 2009