Enhancing community genetic literacy

Funded by Genetic Disorders UK and CLAHRC Yorkshire & Humber

 What are the aims of this project?

This project aims to develop materials and approaches for enhancing genetic literacy at community level with a focus on the genetic risk associated with customary consanguineous marriage.

 Why is this important?

Populations that practice customary consanguineous marriage have higher rates of infant mortality and lifelong disability due to a heightened risk of autosomal recessive genetic conditions. WHO recommends: training health professionals, raising genetic literacy at population level, and focused services for families at risk. However, UK service responses are in their infancy and most people at risk have little or no understanding on which to make informed decisions. The need to increase understanding and develop appropriate services has been identified in Sheffield at both community and professional levels.

This project links to our wider programme of work on developing an appropriate service response to genetic risk associated with customary consanguineous marriage.

 How will the research be carried out?

A participatory, action research project has been adopted with the goal of developing, delivering and evaluating a community-based genetic literacy and support model. Working closely with community researchers, we undertook an iterative process of generating insight, developing materials and testing our approach.  Follow on work is now underway to evaluate more rigorously an informational video that has been developed.

Timeframe:

March 2013 – March 2016

Who is undertaking the research?

Professor Sarah Salway, Dr Parveen Ali, Saima Ahmed (Pakistan Advice & Community Association), Dr Liz Such

 How are stakeholders being engaged?

The project involves close collaboration between university researchers, public health practitioners and community based organisations. The participatory approach involved community researchers who were trained and supported to gather and analyse data in their communities. An advisory group was convened to provide critical commentary on the initial research, involving lay and professional members. The project now reports regularly to the Sheffield Community Genetics Working Group. Findings and progress are shared regularly across the region with stakeholders.

What will be the outputs from the study?

A video has been developed and is available on request s.salway@sheffield.ac.uk

A presentation on the project was delivered by Sarah Salway at the Lancet/UCL Public Health Science conference in Glasgow in November, 2014.Towards enhanced community genetic literacy among a minority ethnic community: a participatory action research project


Cascading genetic information within families

Funded by Sheffield Children’s Hospital Charity 

 What are the aims of this project?

This research aims to understand in detail patients’ and providers’ perspectives on the issue of cascading genetic information and services within families.

 Why is this important?

The inherited nature of genetic health conditions makes them a family concern. When one person is diagnosed with a genetic condition, this raises questions about the risk of illness for related individuals, including children yet to be born. However, sharing information among family members may not be straightforward, raising a host of personal, ethical and practical issues. This is particularly so for conditions where individuals can be healthy carriers, living life unaware of the genetic risk that they carry. As genetic technologies develop and testing for even very rare conditions expands, there is a growing need to develop effective and appropriate approaches to offering genetic services to wider family members. Furthermore, increasing ethnic and religious diversity of the population makes it important that such approaches are adequately responsive to diverse patient needs. Indeed, advances in genetic services must be made as accessible to all groups of people as possible. Currently we know little about the factors that encourage or discourage genetics service users – particularly those from minority ethnic groups – from sharing information with other family members (we call this ‘cascading’). This gap in understanding makes it difficult for service providers to know how to approach this issue effectively.

This project links to our wider programme of work on developing an appropriate service response to genetic risk associated with customary consanguineous marriage.

 How will the research be carried out?

We will carry out detailed interviews with service users from a range of ethnic and religious backgrounds, and also with genetic counsellors working within the Regional Genetics Service at Sheffield Children’s Hospital. Initial findings will be shared in a participatory workshop with stakeholders to explore possible modifications to current practice.

Timeframe:

March 2014 – December 2016

Who is undertaking the research?

Professor Sarah Salway, Dr Oliver Quarrell (Sheffield Children’s Hospital), Dr Parveen Ali.

 How are stakeholders being engaged?

The project involves close collaboration between university researchers, clinicians and healthcare professionals and Sheffield Children’s Hospital. An advisory group has been convened to provide critical commentary on the research, involving lay and professional members.

What will be the outputs from the study?

Findings will be used to inform the development of improved approaches to cascading with the aim of testing in a follow on study.

Presentations and papers will be prepared for both professional and lay audiences.