Celine Lewis

Project Officer (RAPID)

Since December 2009 I have been working on the RAPID project. RAPID is an NIHR (National Institute for Health Research) funded programme which aims to evaluate all aspects of a new prenatal testing technique called Non Invasive Prenatal Diagnosis.

Currently, couples who know they are at risk of having a child affected by a genetic condition, can opt to take a diagnostic test such as an amniocentesis or CVS during pregnancy, to collect a sample of the fetus's genetic material. These invasive tests carry a small but significant risk of miscarriage (up to 1%) and can only be performed after 11 weeks into pregnancy. During pregnancy, the fetus's DNA circulates in the mother's blood. Non Invasive Prenatal Diagnosis (NIPD) allows us to use a normal blood sample taken from the mother's arm to determine whether the fetus has a particular genetic condition. Because it is a simple blood test, there is no risk of miscarriage and testing will be possible earlier in pregnancy.

NIPD tests to identify specific genetic conditions caused by changes in a single gene such as cystic fibrosis, haemophilia and beta-thalassaemia, or for chromosomal conditions such as Down's syndrome, are being developed. Before NIPD can be introduced into routine clinical practice, it is important to investigate the preferences and information requirements of service users who have used or may consider using this new test in the future.

My role on this project will therefore be to:

• investigate the views, preferences and information needs of those people who are currently using, or may consider using NIPD in the future, through face to face interviews
• develop new patient information materials about NIPD
• trial these materials with users to ensure they are clear, understandable and addresses their needs and concerns feedback the findings to the National Genetics Education and Development Centre and National Screening Committee to inform the development of health professional training materials

For more information on the Rapid project please look at the project website www.rapid.nhs.uk

Email: celinegeneticalliance.org.uk