1. Emma Baple and Dom McMullan 20th February 2018
MDM guidelines
Emma Baple and Dom McMullan
20th February 2018

2. Next generation sequencing is (relatively) straightforward
Variant interpretation is not…

4. Transformation of Genomic MDT meetings
The bioinformatics pipeline was designed to retain rare variants by ……. (highlight MAF)
Does this variant in this gene fit this patient’s phenotype?

5. MDT working group meeting 30th January 2018
Ed Blair, Dom McMullan, David Hunt, Ellen Thomas, Phil Twiss, Frances Elmslie, Julia Baptista, Ana Beleza, Thalia Antoniadi , Emma Baple, Arianna Tucci, Li Chan, Emma Clement, Ian Berry, Helen Brittain, Sandra Hing, Sarah Bowdin , Jo Mason, David Ghokale, Anthony Prudhoe, Wook Ahn, (Christine Patch, Michelle Bishop, Martina Muggenthaler, Kate Thompson, Georgina Hall)

6. MDT working group meeting 30th January 2018
: The CRG and Genomic MDTs (Frances Elmslie)
: Update on the standardised genomic report template (Sian Ellard)
: Experiences of mainstreaming at Toronto Sickkids Hospital (Sarah Bowdin)
: Group work to develop a draft MDT outcome form as an appendix for the standardised report (Emma Baple/Dominic McMullan)
13.30 – 14.30: Group work to develop draft guidelines for Genomic MDTs
With recognition that there will be variability locally, the discussion will be around looking at the role of different types of MDTs, governance, responsibilities and expectations of attendees.
: Future plans

7. Aims
To develop a standardised MDM summary form to be incorporated as an appendix to the standardised report template
To develop MDM guidelines as part of the Rare Disease Validation and Reporting guidelines

8. MDM summary form and guidelines plan
Brief survey about current practice circulated to NHSE validation and reporting working group
Provide examples of current MDM summary forms and guidelines
Meeting of working group
Iterative work on MDM summary form
Incorporate into NHSE Rare Disease Validation and Reporting Guidelines
Iterative work on MDM Guidelines

9. Standard report template

10. Standard report template

11. MDM guideline development
MDM can involve face to face meeting, Webex, telephone, and in the future possibly via CIP/other electronic interface
Avoid multiple bystanders
Clearly defined roles
Different types of MDT: Decision making/Educational and training (record attendee names and roles)
Smaller groups for decision making MDTs
Remember MDTs are expensive
MDM coordinator
MDM chair

12. MDM guideline development
Questions to be answered should be circulated in advance of the MDM
Any relevant publications and collated evidence should be circulated prior to the MDM
Joint clinical scientist and clinician preparation for MDM
Those attending the MDM should come prepared so that informed decisions can be made

13. MDM guideline development
Clinical scientists are responsible for collation and assessment of the scientific aspects of variant classification
Clinician input generally relates to 4 areas:
Does the phenotype fit the gene/variant?
Are there additional family members who could provide a sample for segregation?
Is there further phenotype information for the proband or family members which would provide additional evidence?
Is there an expert who might know more and be willing to help?
Actionable versus not actionable
NHSE are investigating the legal issues around accountability for MDM outcomes

14. MDM guideline development
MDM discussion and outcomes that influence the variant classification for variants included in the report should be documented as part of the appendix summarising the evidence for variant classification
MDM summary form should be held in the laboratory linked to the report as a permanent record and for audit purposes but not circulated with the report
Treatment and management may be discussed as part of the MDM, but any recommendation and decisions should be left to the referring clinician/clinical team

15. MDM summary form

16. MDM summary form

17. Other areas of discussion
Guidelines for incidental findings to enable a consistent approach nationally
Negative cases and additional analyses – indications and timeline
New phenotype or family information, new published evidence for a gene/group of genes
Webex security – NHSE investigating the use of N3 Webex
Guidelines for which cases require more comprehensive MDT
Who should attend the MDT