Clinical Genomics - Fundamentals of Variant Interpretation in Clinical Practice

The course, first held in 2008, 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.

Over the course of three days, participants will engage in a framework of guided interactive sessions covering key areas of general variant interpretation, utilising the updated ACMG framework and essential online tools like DECIPHER. Building upon this foundation, the programme will delve into specialist areas such as cancer genetics, cardiac genetics, non-coding variation, CNV analysis, and a protein-centric view of variants. These sessions will include highly interactive workshops, allowing you to learn directly from the experts who are pioneering advancements in these fields.

In addition to the rich educational content, this course also offers a rare opportunity to network and collaborate with some of the most distinguished leaders in clinical genetics. The in-person format ensures that you’ll benefit fully from the discussion workshops and networking opportunities, which are integral to the experience.

Target Audience

This advanced course is designed for clinical geneticists (both consultants and trainees). We also welcome applications from other clinicians and clinical scientists who integrate genomic data into their daily practice.

This is a residential course, and all participants are requested to attend in person. By doing so, you’ll maximise the benefits of the immersive discussions and gain unique networking opportunities with both peers and field leaders.

The course has been awarded 14 CPD credits by the Royal Colleges of Physicians of the United Kingdom.

After attending this course, you 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 and correlate genotype with phenotype
• Understand the effects of protein coding variants and assess them from a perspective of protein structure
• Assess the variants in non-coding elements of the genome
• Explain the potential of nucleic acid therapies in genomic medicine

The course will start at approximately 12.00 on Monday, 3 February and close at approximately 13.00 on Wednesday, 5 February 2025. All times are in GMT.

Discussions and interactive workshops will focus on a variety of topics, including:

• Tools for variant interpretation
• ACMG framework
• Introduction to DECIPHER
• Cardiac variant interpretation
• Cancer variant interpretation
• Copy number variation (CNV)
• Non-coding variation
• A protein view of variants
• Therapies for genomic disorders
• Penetrance

Scientific programme committee

James Fasham
University of Exeter, UK

Helen Firth 
Cambridge University Hospitals, UK

Julia Foreman
EMBL-EBI, UK

Confirmed speakers

Manohar Bance
University of Cambridge, UK

Diana Baralle
University of Southampton, UK

Leslie G. Biesecker
National Human Genome Research Institute, USA

Isabelle Delon
Cambridge University Hospitals, UK

Helen Firth
Cambridge University Hospitals, UK

Julia Foreman
EMBL-EBI, UK

Alice Garrett
The Institute of Cancer Research, UK

Julie Lecarpentier-Guillou-Keredan
EMBL-EBI, UK

Joe Marsh
University of Edinburgh, UK

Elizabeth Radford
University of Cambridge, UK

Raheleh Rahbari
Wellcome Sanger Institute, UK

Mina Ryten
University College London, UK

Kaitlin Samocha
Massachusetts General Hospital, USA

Stephan Sanders
University of Oxford, UK

Eamonn Sheridan
University of Leeds, UK

Clare Turnbull
The Institute of Cancer Research, UK

James Ware
Imperial College London, UK

Nicky Whiffin
University of Oxford, UK

Caroline Wright (keynote)
University of Exeter, UK

Michael Yates
University of Edinburgh

Organisers – Wellcome Connecting Science

Scarlett Storr, Event organiser
Nagehan Ramazanoglu Bahadir, Programme developer

Prerequisites
This course is suitable for clinical geneticists (both consultants and trainees). Applications from other clinicians and clinical scientists who integrate genomic data into their daily practice are also welcome.

How to Apply
Please complete the online application form. You will need to provide the following:

1. Your CV
2. A short statement (maximum 300 words) explaining why you would like to attend the course, including the following details:

• An outline of your current position
• A summary of your previous experience in variant interpretation
• Why you want to attend the course and how you will benefit from it
• How you plan to share the knowledge and skills gained from the course with your colleagues and peers

Places are limited and will be awarded on merit. If you have any problems with the online application process, please contact us.

Application and bursary deadline: 26 November 2024 at 23.59 GMT

Participants are encouraged to stay onsite as networking and informal discussion are an important part of this training.

The fee will be requested once acceptance is confirmed.

Bursaries

Wellcome Connecting Science offers registration bursaries (usually 50% of the registration fee) to those who would benefit from training but face financial barriers to attending events.

Bursary applications need to be completed in the online course application form before the deadline.

Please be prepared to:

• explain why you would benefit from funding
• answer questions about your work.

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
Booked accommodation is for the nights of 3 and 4 February 2025. If you wish to book onsite accommodation either side of the course dates, please contact the Conference Centre directly.

Travel visas
Citizens of many countries can travel to the UK to attend a course or conference 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 event organiser.

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

Feedback from the previous course participants

“The sessions were all fantastic. Using worked examples in DECIPHER was very helpful. Having the talk on ACMG guidelines was so insightful. It was lovely to be able to stay on site and get to know others.”

“I have improved my understanding of variant interpretation and decipher platform – both will greatly benefit my clinical practice and ongoing patient care.”

“We felt we had an ahead start with the new ACMG guidance that is due to be released. Most of the lectures and the workshop were relevant to my clinical work as well my research project.”

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