Understanding the barriers to genetic counselling for carriers of inherited conditions

Why is this research needed?

Genetic eye diseases are due to changes in the genetic code and are highly likely to be passed from an affected parent to a child. Through preimplantation genetic diagnosis (PGD) it is possible to ensure that the condition is not passed on to the unborn child.    

In PGD an embryo is produced by in vitro fertilization and it is tested for the disease causing genetic change found in the parent.  Only embryos which do not contain the genetic change are implanted into the mother’s womb.  This results in the birth of a child without the genetic eye disease.  There are clear benefits for families affected by genetic eye disease using PGD, yet few people with genetic eye disease take advantage of it.    

What is the aim of the project?

This study will carry out interviews with people affected by genetic eye diseases to better understand why PGD is used so infrequently.  The study’s qualitative interview approach will allow patients to express their views on healthcare and uncover any barriers to seeking PGD in a free and safe environment, unencumbered by the researcher’s own opinions.

How will this research help?

We already know from other fields of medicine that accessible information sources (for example leaflets) are vital to help patients make healthcare decisions.  The researchers believe that lack of accessible information on PGD for people with visual impairment will continue to contribute to the low uptake of PGD by people with genetic eye disease.  

Since information resources are formatted for people without visual impairment, the study will ask patients with genetic eye disease how they would like to access information on PGD. 

Based on the patients’ feedback, the group will create a range of accessible information leaflets and a pilot website to provide information on PGD for genetic eye disease.  These resources will be further optimised through additional patients’ feedback to ensure that the information resources are adapted to their needs and are fit for purpose. This goal is to create a range of clinically useful resources for patients with genetic eye diseases to aid their decision making around using PGD.

Further information

Read about our funded research for inherited eye conditions here.