Implementing a rapid fetal exome sequencing service: What do parents and health professionals think?

• Published in: Prenatal diagnosis Vol. 42; no. 6; pp. 783 - 795
• Main Authors: Mellis, Rhiannon, Tapon, Dagmar, Shannon, Nora, Dempsey, Esther, Pandya, Pranav, Chitty, Lyn S., Hill, Melissa
• Format: Journal Article
• Language: English
• Published: England Wiley Subscription Services, Inc 01.05.2022; John Wiley and Sons Inc
• Subjects: Abnormalities; Diagnosis; Exome; Exome Sequencing; Female; Fetal Sequencing: Progress, Challenges and the Future (Part 1); Fetuses; Genetics; Health Personnel; Health services; Humans; Medical personnel; Medicine; Original; Parents; Parents - psychology; Phenotyping; Pregnancy; Qualitative Research; State Medicine; Training
• ISSN: 0197-3851; 1097-0223
• DOI: 10.1002/pd.6140

Objectives Prenatal exome sequencing (pES) for the diagnosis of fetal abnormalities is being introduced more widely in clinical practice. Here we explore parents' and professionals' views and experiences of pES, to identify perceived benefits, concerns, and support needs. Methods Semi‐structured interviews were conducted with 11 parents and 20 health professionals (fetal medicine and clinical genetics) with experience of rapid pES prior to implementation in the English National Health Service. Interviews were transcribed verbatim and analysed thematically. Results Parents and professionals were largely positive about pES, emphasising clinical and psychosocial benefits of a timely, definitive diagnosis in pregnancy. Concerns included parental anxiety related to the timing of pES results or uncertain findings, a need for guidelines for case selection and reporting, and ensuring sufficient capacity for counselling, phenotyping and variant interpretation. Professionals were concerned non‐genetics professionals may not be equipped to counsel parents on the complexities of pES. Conclusion These findings highlight important issues for clinical implementation of pES. Expert counselling is required to enable parents to make informed decisions during a stressful time. To achieve this, professionals need further education and training, and fetal medicine and genetics services must work closely together to ensure parental understanding and appropriate support. Key points What's already known about this topic? Prenatal exome sequencing (pES) increases genetic diagnoses in structurally abnormal fetuses. Health professionals (HPs) anticipate clinical utility from pES and recognise the need for expert counselling, informed consent and clinical guidelines. What does this study add? UK HPs delivering rapid pES felt positive about pES but worried about variants of uncertain significance and incidental findings (IFs). Parents welcomed the offer of pES, provided they had sufficient time, support and opportunities to ask questions, both for decision making and after receiving results. Recommendations for successful clinical implementation of pES based on parent and HP feedback include improved multidisciplinary working, increased parental support and HP education.