We have been asked to share the following by Dr. Alison Kay, Research Genetic Counsellor, MRC Weatherall Institute of Molecular Genetics at the University of Oxford):

Hello, my name is Alison. I am a Research Genetic Counsellor and I am looking for up to 6 individuals to help with the design of a research study.

Has your child been diagnosed with a genetic change that happened for the first time in them but was not found in you or your partner? You might have heard this called a ‘de novo’ variant. If so, and you are based in the UK, would you be interested in contributing to the development of a research study on parents’ views on finding out about how the change happened and whether it might happen again? We are a team of researchers at the University of Oxford who are planning an interview study on this and we would really welcome your input in the design.

When parents have a child with a genetic condition, they often want to know if this can happen to them again. If their child’s condition is caused by a new (de novo) genetic change, the chance of a future child also having the same condition is called the recurrence risk. Clinical Geneticists and Genetic Counsellors typically inform parents that the general chance of it happening again (general recurrence risk) is around 1-2% (1 or 2 in 100), depending on the condition. This estimate is not based on a couple’s particular genetics; it is based on a population average. As an alternative, the PREGCARE study at the University of Oxford have developed a new way of estimating the likelihood of having another child with the same condition for each individual family. This is called a personalised recurrence risk. As this is very new it is not part of routine clinical care. More research is needed before this could happen.

We need to know whether parents who were given general recurrence risk information, which is usually 1-2%, would have rather had a more personalised assessment. We will also be looking at whether those parents who were given a personalised recurrence risk thought it was helpful in deciding what to do when thinking about having more children. The PREGCARE team want to talk to people in the Unique community to help them plan what this interview study should look like.

Please note, no testing is being offered and we are not recruiting to the study at this stage. This is an opportunity to shape and guide research drawing on your own experience.

If you are interested in helping, please contact me and we can arrange a time to speak:

Contact Dr. Alison Kay (Research Genetic Counsellor, MRC Weatherall Institute of Molecular Genetics, University of Oxford): alison.kay@ndcls.ox.ac.uk