Clinical Genomics - Fundamentals of Variant Interpretation in Clinical Practice

The course focuses on the scientific principles and tools of genomic analysis and interpretation that underpin clinical practice. It’s designed to equip attendees with the skills required to work in the fast-paced, new era of genomic medicine.

The three-day programme will follow a framework of guided interactive sessions covering key areas of general variant interpretation, using the ACMG framework and online tools (DECIPHER). Building upon this foundation, further specialist areas will be explored, including cancer genetics, cardiac genetics, non-coding variation, CNV analysis and a protein view of variants. These sessions will have a strong interactive theme delivered by experts in the respective fields.

Target Audience

This advanced course is suitable for both clinical geneticists (consultants and trainees) and clinical scientists delivering genetic healthcare. Applications from other clinicians who are using genomic data in their everyday practice are also welcome.

This is a residential course. All participants are requested to attend the meeting in-person, so that they receive the full benefit of discussion workshops and networking opportunities.

CPD Accreditation

First held in 2008, this course is endorsed by the Clinical Genetics Society and is relevant for the revalidation of clinical geneticists. Also, the course has been awarded 14 CPD credits by the Royal Colleges of Physicians of the United Kingdom.

After attending the course, participants will be able to:

• Recognize current core tools for genomic variant interpretation
• Perform DECIPHER independently to assess a genomic variant
• Assess the structure and application of the ACMG framework for variant classification
• Implement some of the specific aspects of variant interpretation as applied to cardiac and cancer genetics
• Utilise online tools for CNV interpretation
• Describe and evaluate the nature of the mutational process and the aetiology of mosaicism
• Understand the effects of protein coding variants and assess them from a perspective of protein structure
• Appreciate the nature and assess the variants in non-coding elements of the genome

The course will start at approximately 12.00 on Wednesday 25 January and close at approximately 14.00 on Friday 27 January 2023.

Scientific sessions

• Tools for variant interpretation
• The ACMG framework
• How to use DECIPHER
• Cardiac genetics
• Cancer genetics
• CNVs and SNVs
• Mutation and mosaicism
• A protein view of variants
• Non-coding variation

All participants are requested to attend all of the sessions and participate in networking to benefit fully from discussions and interactions.

Scientific programme committee

Helen Firth
Cambridge University Hospitals, UK

Julia Foreman
EMBL-EBI, UK

Alexander Ross
University of Cambridge, UK

Keynote speaker

Andrew Wilkie
University of Oxford, UK

Confirmed speakers

Leslie Biesecker – NIH/NHGRI, USA
Julia Foreman – EMBL-EBI, UK
Matthew Hurles – Wellcome Sanger Institute, UK
Stefan Mundlos – Max Planck Institute for Molecular Genetics, Germany
Serena Nik-Zainal – University of Cambridge, UK
Elizabeth Radford – University of Cambridge/WSI, UK
Erin R Riggs – Geisinger, USA
Alexander Ross – University of Cambridge, UK
Kaitlin Samocha – Massachusetts General Hospital, USA
Eamonn Sheridan – University of Leeds, UK
Marc Tischkowitz – University of Cambridge, UK
James Ware – Imperial College London, UK
Nicky Whiffin – University of Oxford, UK
Andrew Wilkie – University of Oxford, UK
Caroline Wright – University of Exeter, UK

Organisers – Wellcome Connecting Science

Zoey Willard, Conference & Events Organiser
Nagehan Ramazanoglu Bahadir, Scientific Programme Officer

Application deadline: 22 November 2022

Prerequisites
Applicants should be clinical geneticists (consultants and trainees) or clinical scientists delivering genetic healthcare. Applications from other clinicians who are using genomic data in their everyday practice are also welcome.

How to apply for this course
Please complete the online application form. Places are limited and will be awarded on merit.

If you have any problems with the online application process, please contact the event organiser.

Travel visas

Citizens of many countries can travel to the UK for a course without needing a visa. Please check the UK government website for visitor information:
https://www.gov.uk/standard-visitor.

Confirmed attendees requiring a letter to support a visa application should contact the course organiser.

The fee will be requested once acceptance is confirmed.

Accommodation

Participants who have registered for accommodation will stay at The Hinxton Hall Conference Centre, Cambridge for the nights of 25 and 26 January 2023.

Bursaries

Bursary deadline: 22 November 2022

A limited number of registration bursaries are available to attend this course (up to 50% of the standard registration fee) from Wellcome Connecting Science.

The following documents will need to be provided:

• a letter stating financial need and explaining how you will benefit from attending the course
• a supporting letter from supervisor stating financial need
• CV

To apply, please send the above documents to the event organiser by the bursary deadline. Please ensure you have completed the online application before applying for a bursary.

We will be in contact with the result of your application shortly after the deadline.

Additional funding opportunities
Visit our support page for additional financial support currently available.

Extra accommodation
If you wish to book onsite accommodation either side of the course dates, please contact the Conference Centre directly.

Accommodation services phishing scam – please be vigilant. More information.

Feedback from previous courses

“Excellent combination of science and application in clinical practice. I found the workshop sessions very helpful”

“The hands on computer workshops were of great practical help I also liked the wide range of background in the participants”

“The programme is brilliant and the stage we have got to in genomic medicine/in my own clinical work made everything we did very relevant on a day-to-day basis”

“The workshop on how to use the DECIPHER website was especially useful”

“The experience was outstanding, amazing venue, fantastic support from staff who looked after us very well”