In recent years, the genetic causes of JGD have been identified; accurate diagnostic and screening tests created; and some effective treatments developed. Although the opportunity now exists to reduce the prevalence and negative impact of JGD, there has been no effective, co-ordinated effort in the UK to capitalise on these advances.
In March 2009, a report reviewing the needs and current services for Tay Sachs Disease (TSD) carrier screening among UK Ashkenazi Jews concluded that much work is needed to improve service delivery and community awareness. TSD is currently the only JGD for which screening is available on the NHS and for which a community approach to education exists. For the other JGD, many of which are more prevalent and others which are as serious as TSD, there is no state funded testing programmes or organised educational initiatives.
The need to better understand and address Jewish genetic disorder-related education and service needs has been raised in a variety of forums. In response, Jnetics is carrying out a ‘state-of-the-nation’ research project to assess the gap in JGD understanding, to provide a tool to help raise awareness and to effectively direct efforts to better support the needs of those at risk and affected in the UK.
The primary objectives of the research are:
- To provide an accurate, up-to-date review of the current status of JGD understanding, education, services and support in the UK.
- To identify the core issues and key challenges for improving the prevention, diagnosis and treatment of JGD in the UK.
- To present recommendations for positive action to raise awareness and improve access to the best available information, services and support for JGD in the UK.
The qualitative research will be carried out over a six-month period by Jnetics researchers, under the guidance of our scientific and medical advisory board and trustees.
Information will be collated from a range of sources and analysed to identify key themes and issues. Findings will be published in a professional report that will be disseminated to help raise awareness and promote positive action.
In addition to the primary research objectives, the report will serve as a guidance document for the strategic development of Jnetics to ensure that our resources are used to address priority project and service needs.
It is hoped that the report will also provide a tool for geneticists, clinicians, patient groups, Jewish community leaders and others able to raise awareness and promote initiatives to better address the JGD education, service and support needs identified.
If you are interested in learning more about this ‘state-of-the-nation’ research project, please contact us on firstname.lastname@example.org.