Beginner's guide to genomic testing: Who, what and how - webinar recording

In March 2023, we invited Dr Harry Leitch to speak about genomic testing for paediatricians. He shared insights from his own experiences in the NHS, followed by an interactive Q&A session.

In this webinar, Dr Harry Leitch provided an introduction to ordering genomic tests in the NHS, with a particular focus on Whole Genome Sequencing (WGS). He also covered how to interpret the results of genomic tests and offered tips on the consenting process and speaking with families.

Identifying eligible patients

Dr Leitch started with an overview of the different types of genomic tests available such as microarray, WGS, etc and when to use each of them. He noted how patients with developmental delays or congenital abnormalities, or with a relevant family history may be eligible for WGS testing on the NHS.

The National Genomics Test Directory

He introduced this Directory, along with an explanation of how the Genomic Laboratory Hubs work as part of the Genomic Medicine Service. Practical considerations for paediatricians such as ordering the appropriate sample types and filling in the forms correctly were discussed. Dr Leitch stressed the importance of providing the right clinical information including selecting the right panels, in order to get the best possible result from the lab.

A more detailed discussion on the R14 test followed, on which Dr Leitch spoke about its diagnostic utility as a gene-agnostic test and focused on the importance of sending trio tests wherever possible.

Consent and reporting results

Dr Leitch then moved on to how variants are classified, and what each of them means for the paediatrician. Tips for breaking distressing news to parents were also shared, with recommendations to prepare families as early on in the consenting process as possible.

He spoke about which tests can be ordered by paediatricians themselves and which ones would need referral to Clinical Genetics, noting that there could be considerable regional variation in practice. At this time he also mentioned briefly the challenges and constraints of genomic testing.

Delegates' questions

A lively Q&A session followed, covering topics such as timelines, the best way to explain to families what the results mean for them, resequencing/reanalysis of data, and how to handle variants of uncertain significance in the clinic.

Dr Ngozi Edi-Osagie, RCPCH's Clinical Officer for Genomics thanked the audience and Dr Leitch, drawing the session to a close.