IPREGCARE: impact of personalised genetic counselling for couples
Research type
Research Study
Full title
iPREGCARE: Impact of personalised genetic counselling for couples with a child affected by a disorder caused by a de novo mutation.
IRAS ID
302395
Contact name
Anne E Goriely
Contact email
Sponsor organisation
University of Oxford / Research Governance, Ethics and Assurance
Duration of Study in the UK
1 years, 9 months, 27 days
Research summary
Sometimes, a child is born with a serious health issue because of a genetic change in their DNA code. When their parents don't appear to have this genetic change themselves, it is called a de novo or ‘new’ mutation. This unexpected situation can be difficult for families, and many parents want to know how likely it is to happen again in another pregnancy (the 'recurrence risk').
Each couple is generally told that there's a 1-2% chance of having the same issue in their next pregnancy. In reality, for most couples, the chance of recurrence is actually much lower than 1-2%. However, for a few families, the risk is much higher because the genetic change is in some of the mother's eggs or some of the father's sperm (gonadal mosaicism). Our Public Advisory Group (PAG) told us that the general 1-2% risk isn't very reassuring, saying things like, “Population risk information was not enough for me, it’s not personal. If it’s happened once to me, it can happen again”.
In our previous study, PREGCARE, we used new ways to give a personalised recurrence risk to each couple before they decide on another pregnancy, by looking at samples like blood, saliva, and the father's sperm. Now we will talk to couples who received this assessment and those who were given the general 1-2% risk. We want to understand how personalised risk information could impact couples and how best to explain the test and possible outcomes to support informed choices. We will use this information to inform healthcare professionals via articles / talks and will design an illustrated guide (infographic) with our PAG to help people understand the risk of these genetic issues happening again. Longer-term, we hope PREGCARE will become a routine NHS test and provide families with a personalised risk assessment.
REC name
London - South East Research Ethics Committee
REC reference
25/PR/0105
Date of REC Opinion
5 Feb 2025
REC opinion
Favourable Opinion