2007/08 - Promoting genetics in mainstream medicine

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.

New publication - April 2008: 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

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

 

 

Service review for Tay Sachs Disease - New Project

The PHG Foundation is working with Sara Levene of Guy’s Hospital, London, to review the screening programme for Tay Sachs Disease in the UK.

Tay Sachs disease is an inherited neurological disorder that takes several forms, depending on the particular genetic mutation(s) involved. All forms result in progressive disability and, in most cases, it causes death in early childhood. The condition occurs more frequently in some populations than others, and it is more common in people of Ashkenazi Jewish ancestry. The screening programme is largely aimed at identifying carriers of the condition.

Funded by the National Screening Committee, the review will include a wide range of stakeholders from across NHS and other concerned communities. It will involve a thorough needs assessment and review of current screening programmes across the UK. The work will result in a report in Autumn 2008 to the National Screening Committee with recommendations for action based on the epidemiology of the disease, demography of affected individuals and communities, evaluation of the current screening services in the UK and internationally and the needs and wishes of the communities concerned.

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

The Joint Committee on Medical Genetics has commissioned a steering group (including Dr Hilary Burton of the PHG Foundation) to address the use of cell-free fetal nucleic acid testing for medical applications.

Techniques to analyse fetal DNA and RNA present in maternal blood from early pregnancy are becoming available., and provide a potential non-invasive method for the prenatal identification of Rhesus blood group status or fetal sex (for sex-linked genetic disorders), and the diagnosis of single gene disorders and aneuploidies such as Down Syndrome. The benefits of this new technique are the capacity to provide earlier, safer and cheaper testing without the requirement for invasive procedures (amniocentesis or chorionic villus sampling).

The PHG Foundation is working with the Steering Group to convene an expert working group to address the use of the new techniques, with the aim of producing a report with strategic recommendations for the prompt and appropriate implementation of prenatal cell-free nucleic acid testing for different applications within UK clinical services, taking into account:

• the current state of the technology
• its potential uses in clinical services
• ethical, legal, social and regulatory issues
• the potential applications in direct-to-consumer testing

The PHG Foundation will identify the evidence that stakeholders would require before cell-free fetal nucleic acid testing is implemented by the NHS, and the conditions and safeguards that would need to be in place.

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