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Applied Health Genetics Research Group

Read our latest news items

Current Studies:

Views of carriers about a new test in pregnancy

What is the study about?

The study is being done to find out the views and information needs of people who may be offered a new type of test called non-invasive prenatal diagnosis (NIPD) in future pregnancies. NIPD is done on a sample of the motherís blood that is taken from the arm like a normal blood test. The motherís blood contains some of the babyís DNA and this can be used for genetic testing to see if the baby has inherited a particular condition.

Currently, there is very little information about what people think of this test. Therefore we would like to speak to people who might be offered this test in the future, should it become available. The findings from this study will be reported back to the NHS so that they can have a better understanding of what people think of this test. It will also help us to develop well informed and useful educational materials for people who are thinking about taking this test in the future.

This test may in the future be offered to women during pregnancy who are at an increased risk of having children affected by certain genetic conditions including sickle cell disease, cystic fibrosis and thalassaemia. If you are a carrier of sickle cell disease, we would therefore like to speak to you to find out what your thoughts are about this new test, should it become available.

For further information please read the participant information sheet.

If you are interesting in participating in this study or would like to discuss it, please contact Heather Skirton, the researcher on this study by doing one of the following:
Email Heather Skirton (Plymouth University researcher) at:  

Unexpected results from genetic testing

If you are a healthcare professional specialising in genetics, a scientific researcher using genome-wide technologies, an NHS research ethics committee member or a member of the public, please take a moment to read about our current study and we would be delighted if you would consider taking part.

What is this study about?

As we understand more about our genes, it is possible to find the genetic cause of many diseases.  Sometimes when we do a genetic test, we may accidentally find out some information about the person we are testing that is not connected to the original reason for the test. The aim of this study is to find out the views of healthcare professionals, genetic researchers, ethics committee members and members of the public with or without experience of the genetic testing process regarding how doctors and other healthcare professionals should deal with these unexpected results. 

Further information:

Healthcare professionals  
NHS ethics committee members  
Genetic researcher  
Members of the public - with experience of genetic testing

- without experience of genetic testing

For further information about this study or to register your interest in participating, please contact:

Leigh Jackson,
Room 300,
Hepworth House,
Drake Circus,
Plymouth University,

Telephone: 01752 586558

Exploration of the experiences of pregnant women of advanced maternal age and their attitudes to genetic screening and testing.

What is this study about?

While technical progress has brought greater opportunities for antenatal screening and testing, there is still evidence that women and their partners do not make informed choices when they accept or decline screening.  In the UK, the introduction of universal screening has shifted attention away from mothers of advanced maternal age and as yet there are no studies that focus on this group to ascertain whether their needs are currently being met by midwives.
The aim of the study is to explore womenís experience of childbearing and genetic risk, genetic testing and screening, in the context of advanced maternal age.

Study poster    

If you are aged 35 and over and would like further information about the study, a Participant Information Sheet  is available here or you can watch the short video above.

To register to take part in this study, please contact either the principal researcher:

Professor Heather Skirton
School of Nursing and Midwifery
Plymouth University
Telephone: 01823 366911  

Or alternatively you can contact the research assistant:

Anita OíConnor
School of Nursing and Midwifery
8 Portland Villas (room 010)
Plymouth University