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97 Exploring health professional attitudes towards rapid fetal exome sequencing for prenatal diagnosis: What do we need to do to ensure safe implementation?
  1. Rhiannon Mellis1,
  2. Melissa Hill2,
  3. Lyn Chitty1
  1. 1Great Ormond Street Hospital/UCL GOS Institute of Child Health
  2. 2Great Ormond Street Hospital


Background Fetal exome sequencing (ES) for the diagnosis of fetal abnormalities will soon be implemented in the UK National Health Service. Current guidance for offering fetal ES is limited so research is needed to guide implementation in a manner that maximises benefit for patients. Here we explore health professionals’ views and experiences of fetal ES, to identify perceived benefits, concerns, and support needs of health professionals and families.

Methods Qualitative semi-structured interviews were conducted with 20 health professionals from fetal medicine and genetics (consultants, midwives, genetic counsellors and clinical scientists) involved in delivering rapid fetal ES on a research basis. Interviews were audio recorded, transcribed and analysed thematically. Data collection and analysis are ongoing.

Results Perceived benefits of rapid fetal ES include its potential to increase diagnoses, and inform pregnancy management. Health professionals emphasised that a definitive diagnosis from fetal ES allows more accurate counselling of families about prognosis and how parents value this information for reassurance, preparation for the birth, or to aid decision-making in pregnancy.

Concerns include limitations of our ability to interpret exome data, need for guidance on reporting results, and provision of genetic counselling pre- and post-test. Members of all groups worried that non-genetics health professionals may not be equipped to confidently counsel parents on the complexities of ES, and that fitting a detailed consent conversation into existing obstetric workflows could be challenging.

Conclusions Our findings highlight that fetal ES necessitates expert counselling to support parents to make informed decisions during a stressful and time-pressured period. To achieve this, non-genetics health professionals need further training and fetal medicine and genetics services must work collaboratively. Guidelines are required for referral and reporting results. Implementation is likely to require additional staff trained in prenatal genomics to deliver the counselling and laboratory work required.

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