Journal Article

706 Timely and ethical access to genetic investigations on the neonatal unit: a collaboration between Leeds Centre for Newborn Care and The Yorkshire Regional Genetics Service

Hayes, Alyce, Redman, Melody, Harthill, Verity, Johnson, Kathryn, McTaggart, James

2022

Overview

AimsGenomic testing is often important in the management of neonates in tertiary care. Tests need to be timely, and families need to be adequately counselled to allow informed decision making. Both teams identified several interventions to improve genetics management on the neonatal unit, particularly in response to the Covid pandemic.Our objectives were to improve current practices by focussing on two areas:1. Access to genetics expertise, with an emphasis on virtual working2. Current practices surrounding consent for genetic investigationsMethodsIn response to the Covid pandemic a Neonatal-Genetics virtual MDT was implemented in September 2020. Data was retrospectively collected from the medical notes of all neonates referred to genetics during a fifteen-month period (December 2019-March 2021) to allow for comparison of data before and after this intervention. Data was collected on consent documentation for genetic tests (QF-PCR, microarray) in the neonatal unit. As consent documentation appeared sparse, a survey was disseminated to all clinicians on the unit in February 2021 to assess knowledge of genomic testing and consent-taking. An email survey was sent to 6 neonatal units in Yorkshire and the Humber in August 2021 to explore regional variations in consent processes.ResultsThere was an increase in referral rate from 1.5% to 2.3% after MDT introduction but a 33% reduction in the proportion of babies requiring in-person geneticist reviews. Anecdotally, the MDT was considered a positive change by both teams by facilitating continued communication. Only 11% of neonates (n=2 of 17) had adequate consent documentation for genomic tests by the neonatal team. Of 27 respondents of the staff survey, only 2 (7%) had received formal training in consent for genomic tests and only 22% (n=6 out of 27) felt confident in consenting and explaining genetic testing to parents. All (100%) respondents felt a teaching session on genomic testing would be helpful, and all respondents agreed that it would be beneficial to develop a guideline to aid the consent process. None of the regional neonatal units contacted had a formal education program or standardised guideline in place. In response to this, a teaching programme was devised and a checklist created to facilitate the consent process for genetic testing. The teaching sessions were well-received, attendees scored the sessions an average of 4.8 out of 5 (n=19 respondents) for overall usefulness and quality.ConclusionIntroducing an MDT allowed for streamlined working during the pandemic and facilitated ongoing discussions of neonates with evolving phenotypes, whilst reducing the burden of inpatient reviews for a busy regional genetics service. Our data identified a paucity of genetic test consent documentation and our survey suggested that staff training and confidence around genomic testing/consent was a contributing factor. Therefore, an educational package for clinicians was developed. This was well-received, and a checklist was created to simplify and standardise documentation. A repeat analysis will be undertaken this year to assess the efficacy of these interventions. The intention is to expand the education package and consent checklist to units within our region and beyond.

• Publisher: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health,BMJ Publishing Group LTD
• Subject: Abstracts / Check lists / Consent / Decision making / Documentation / Education / Genetic screening / Genetics / Genomics / Guidelines / Intensive care / Medical ethics / Neonatal care / Neonates / Newborn babies / Pandemics / Pediatrics / Phenotypes / Polls & surveys / Surveys / Training