Survey to inform a new research study

Are you a parent or carer of a child with a genetic, rare or undiagnosed condition? Genetic Alliance are collaborating with researchers at Great Ormond Street Hospital, and others, on a research study evaluating rapid exome sequencing for critically ill children.

For further information and to access the survey: RGS Study

Information about the study

WHAT IS RAPID EXOME SEQUENCING?

Rapid exome sequencing is a new test that is being offered by the NHS. This test is offered when a baby or child is seriously ill, in need of a rapid diagnosis, and has symptoms that suggest they may have a genetic condition. Rapid exome sequencing will look for a genetic cause for the child’s medical condition.

WHY IS THIS STUDY IMPORTANT?

The technology used in rapid exome sequencing is new and until now, the test has not been offered routinely in a national healthcare system. Our research is needed to make sure that the new NHS service benefits patients, supports parents and can be accessed equally by everyone. Our study will evaluate the current service and provide feedback about how it is being delivered across England.

HOW CAN I GET INVOLVED?

You can help us to shape our research study by completing a survey. As part of the study, we are collecting the views of people with experience of being a parent or carer of a child with a rare, genetic or undiagnosed condition. This will help us to focus on the most relevant issues in our study and improve our understanding of how people feel about rapid exome sequencing.

The survey will take 15-20 minutes to complete and will help us find out;

• Your views on this new test
• Whether the research questions we are asking are important to you
• If we have missed any research topics that you think are important.

WHO CAN TAKE PART IN THE SURVEY?

You can complete the survey if you are the parent or carer of a child with a genetic, rare and/or undiagnosed condition. Bereaved parents can also take part. You must be 18 or over and live in the UK.