Whole genome sequencing (WGS) data analysis and reporting will be facilitated by the INTREPID project team.
The entire process, from patient consent to a result being reported to that patient, will take approximately 9 – 12 months.
Whilst the WGS analysis and multidisciplinary team (MDT) process follow national and internation guidelines the pipeline is not accredited which means that the reports issued are ‘research reports’ and any findings classed as being diagnostic must be confimed in an NHS laboratory prior to being reported to a patient.
MDT Process
INTREPID MDT meetings will be held monthly via Microsoft Teams. Participants for MDT review will be grouped according to centre (referring hospital) with 1-2 centres discussed per meeting. Referring clinicians will be invited to join an INTREPID MDT meeting if their patient is going to be discussed by email at least 7 days prior to an MDT meeting.
INTREPID MDT team:
| Name | Specialisation | Role in MDT |
| Professor Siobhan Burns | Consultant Immunologist | Chair |
| Dr Sinisa Savic | Consultant Immunologist | Co-chair |
| Dr Helen Baxendale | Consultant Immunologist | Co-chair |
| Professor Adrian Thrasher | Consultant Immunologist | Co-chair |
| Professor Matthew Cook | Consultant Immunologist | Co-chair |
| Dr Émeline Favreau | Bioinformatician | Feedback lead |
| Dr Jes Maimaris | Clinical Fellow | Feedback team member |
| Dr Luiza De Campos | Clinical Fellow | Feedback team member |
| Stewart Fuller | MDT meeting coordinator | Feedback team member |
WGS results are quality controlled, variants are identified and the common ones removed by filtering. The INTREPID MDT evaluates the variants of each participant and, following the latest guidelines, assigns pathogenicity and contribution to phenotype to causal variant(s).
The INTREPID MDT will request the input of the the referring clinician for assessment in the context of Human Phenotype Ontogeny (HPO) terms. A negative report will be issued if no ‘clearly pathogenic’ or ‘likely pathogenic’ variants are identified and a positive report will be issued if ‘clearly pathogenic’ or ‘likely pathogenic’ variants are identified. Reports will be issued to the referring clinician
‘Clearly pathogenic’ and ‘likely pathogenic’ variants will be submitted to publicly accessible databases linked to the HPO terms to improve the accuracy of future reporting if the same variant is observed in another genetically independent patient. By submitting your patient’s sample for testing you are agreeing for variants identified to be anonymously submitted to publicly assessible databases and used in publications to improve the accuracy of future testing for patients with similar disorders.
INTREPID MDT Guidelines
The INTREPID-MDT Guidelines document outlines the analysis and reporting pipeline carried out by the INTREPID MDT team. The Gene List document outlines gives details of the gene panel that used to analyse WGS data