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VUS MDT Meetings Part 2: Good communication

VUS MDT Meetings Part 2 - Good communication

In this video, our clinicians and scientists have another go at discussing Grace’s NSD1 c.5685C>G p.(Cys1895Trp) variant.

Here we see a better outcome to the discussion, with a proforma summarising what the outcome would have been available here.


As well as seeing a proforma, the participants in this meeting are told to review the ACMG guidelines and are also shown an image of Grace.

As Grace was a fabricated patient for this course we do not have a photo of her to share, instead a placeholder of a different child with Sotos syndrome has bene used to help you familiarise yourself with the characteristic features.

In practice, it is very helpful to share photos of patients to consider how well the phenotype fits.

Our communications expert, Dr Katherine Joekes, has given us her observations of how the communication was improved in this MDT.

Take some time to identify what was different in this second MDT.
Beth, the Genetic Counsellor, took on the role of Chair, and ensured that everyone was introduced, that the case was introduced, and everyone was able to contribute.
The variant classification was explained, which meant that Dr Walker, the paediatrician in this MDT, was aware of the process. She was explicitly invited to query any jargon she did not understand.
As the MDT was more structured, it allowed more detail to emerge from the paediatrician, the scientist, and the clinical geneticist. This enabled a more comprehensive sharing of information.
Jargon was explained, where necessary. A conclusion was drawn, and the paediatrician was able to leave the MDT with a clear message to feedback to the parents.
A brief note about time. You will have noticed that the second meeting took longer. It is important to accept that more effective meetings require more time on the day. However, in the long run they ensure better outcomes for the patient, and less time is wasted down the line for the family and for (other) healthcare professionals.

To summarise the good practice:

  • An effective Chair manages the meeting.
  • Jargon is reduced and/or explained
  • Dr Walker is invited to summarise what she will relay to the family. This allows all members of the MDT to check that the information is understood and will be relayed accurately.
  • Reference is made to up-to-date guidance
  • Adequate time is taken for a comprehensive discussion

For those taking part in the external course evaluation please follow this link to provide feedback for the step.

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Interpreting Genomic Variation: Fundamental Principles

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