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Research

 

This page is hoped to help genetic counsellors communicate about their research. If you are looking for collaboration in your research or you would like to invite a discussion about your research with any other interested professionals, you can place information on this webpage.

Please email us by clicking here and send the following details:

  • name,
  • contact email address
  • information about your research
  • how long you would like your information to remain on the website


     

 

Incidental Findings from Genetic Tests : exploring the ethical issues and implications for practice

 

This project aims to gain an empirical and ethical insight into the experiences and attitudes of healthcare users and professionals towards Incidental Findings (IFs) from genetic testing, using both qualitative and quantitative research methods. This together with a systematic review of relevant literature will provide novel insights into the practical and ethical issues surrounding IFs in genetic practice and allow the development of guidance on how practice should evolve as advancing technology increases the likelihood of IFs.

 

For further information about the study please contact Gill Crawford on 02380 796841 or gc@soton.ac.uk

 

 

 

NEW! Translation of non-invasive prenatal diagnosis (NIPD) for DMD/BMD into a clinical setting . (NIPSIGEN)

 

The aim of this study is to develop and translate into clinical practice non invasive prenatal diagnosis for Duchene Muscular Dystrophy and  Becker Muscular Dystrophy (DMD/BMD) in pregnancy. As  ff DNA testing is utilised to determine fetal sex when a fetus is at risk of being affected with DMD/BMD-the next logical step is to test for the mutation in a male pregnancy, thus avoiding invasive prenatal diagnosis. The host site, West Midlands Regional Genetics Centre has commenced recruitment and all Regional Genetics Centre's across the UK are being contacted to be ask for the help to recruit women who present in pregnancy who are at an increased risk of having a baby affected with DMD/BMD.

The participant will be asked to gift two samples of blood, one when blood is taken for fetal sexing the second when the invasive test is undertaken. All samples will be anonymised and no results will be available.

 

For further information if you would like to participate in the study please contact Julie Hewitt Genetic Counsellor Julie.hewitt@covwarkpt.nhs.uk of 07958702724