Parent views and experiences of prenatal exome sequencing
Research type
Research Study
Full title
Parental views and experiences of prenatal exome sequencing: A sub-study of the Optimising EXome PREnatal Sequencing Services (EXPRESS) project
IRAS ID
261431
Contact name
Melissa Hill
Contact email
Sponsor organisation
Great Ormond Street Hospital NHS Foundation Trust
Clinicaltrials.gov Identifier
researchregistry6138, Research Registry
Duration of Study in the UK
2 years, 0 months, 25 days
Research summary
Summary of Research
Every cell in our bodies has a set of instructions for making us, just like a recipe book. This set of instructions is called our genome and is made of DNA (deoxyribonucleic acid) that has four chemical 'letters' (A, C, G and T) arranged in different sequences. Exomes are the part of our genomes that hold the information for making proteins that are important for our development. Changes in our DNA sequence can cause genetic conditions that can be diagnosed by sequencing tests that look in detail at our DNA.A new national NHS Genomic Medicine Service will offer prenatal exome sequencing to pregnant women when ultrasound scans suggest the baby may have a genetic condition that cannot be diagnosed using standard tests. If a genetic condition is diagnosed this can give parents important information about the outlook for their baby. It can also help with decisions about whether to continue or end the pregnancy, pregnancy management, post-birth care and future pregnancies. The EXPRESS study (Optimising EXome PREnatal Sequencing Services) will evaluate this new service.
As part of EXPRESS we want to understand parental views and experiences of prenatal exome sequencing. To do this we will conduct interviews with parents to ask what they think of exome sequencing, what they understand about the test, and what support and information is needed. We will speak to; 1) parents offered prenatal exome sequencing and 2) parents whose baby was suspected to have a possible genetic condition during pregnancy before exome sequencing was available. We will also look at the costs of exome sequencing to the NHS and to parents. Parents who have been offered prenatal exome sequencing will be asked to complete a short survey on costs. Our findings will be used to make recommendations for best practice.
Summary of Results
Prenatal tests are offered to parents to identify information about their baby’s health. Prenatal exome sequencing is a test that has been offered by the NHS since October 2020. It is offered to pregnant women when ultrasound scans suggest their baby may have a genetic condition. Prenatal exome sequencing can diagnose genetic conditions by looking closely at the genome, which is the body’s ‘instruction manual’. The exome is the part of the genome where the changes that explain genetic conditions are most often found.Our research has looked at how the prenatal exome sequencing test has been offered across England to find out what information and support parents need, whether all parents can access the test, the usefulness of results and what further training healthcare professionals might need. To do this, we spoke with 48 parents - 42 women and 6 male partners. Overall views about prenatal exome sequencing were positive and parents were grateful to be offered the test. Results were helpful for informing parents’ decision making around termination of pregnancy. Parents needed expert support and counselling as there is a lot of information to take in at a very stressful time. They also needed emotional support across their testing journey, including access to support after being told their results. Directing parents to reliable online sources of information will also improve their experiences of care.
As part of the research we worked with a PPI Advisory Group and clinicians to develop an animation that described prenatal exome sequencing. The animation was tested with 428 parents who had been pregnant, or whose partner had been pregnant, in the past two years using an online survey. We found that the animation was viewed positively and improved parents’ understanding of prenatal sequencing tests.
The final part of our research was to conduct focus groups with parents from Black and South Asian backgrounds to improve our understating of their attitudes towards prenatal testing. This work is important as Black and Asian women in the UK face disproportionately worse pregnancy and maternal outcomes but are underrepresented in research. Twelve Black and 15 South Asian parents participated in four focus groups. Black and South Asian parents were open to prenatal screening tests, valuing the information about their baby's health. However, most opposed invasive testing due to risks of harm to the baby. Wanting to be prepared, trust in healthcare, family influence and understanding of genetics shaped attitudes. Faith played a significant and varied role, with Muslim and Christian beliefs influencing decision-making. This research highlights the need for culturally respectful prenatal care and the importance of building trust between healthcare services and Black and South Asian communities.
REC name
East of Scotland Research Ethics Service REC 1
REC reference
21/ES/0073
Date of REC Opinion
9 Aug 2021
REC opinion
Further Information Favourable Opinion