This course type is lecture

Clinical Genomics: Fundamentals of Variant Interpretation in Clinical Practice

29 - 31 January 2020Wellcome Genome Campus, UK
Deadlines (at 23:59 UTC):
  • Application and bursary deadline 27 November 2019

Registration opens soon.
Add me to the mailing list for updates.

Enabeling better interpretation of genetic variants

  • Summary

    This re-vamped course, previously called Fundamentals of Clinical Genomics, will address the scientific aspects of human genetics and genomics that underpin genetic diagnostics and clinical practice, focusing on the latest technological and bioinformatics developments to enable better interpretation of genetic variants.

    The course is aimed at both clinical geneticists and clinical scientists delivering genetic healthcare, and is designed to equip attendees with the skills required to work in the era of genomic medicine.

    The programme aims to understand the origin of mutations, the concepts of germline and somatic mutation and their fundamental implications in development and disease. We will review the resources used in filtering and interpretation of data from genome-wide assays; focus on the pathways and pipelines from DNA sequencing to variant interpretation; and learn how to best integrate phenotype and genotype for safe practice in genomics medicine.

    This year’s course will also include two practical workshops: The first will equip attendees with the skills to interrogate and interpret variant data using assessment tools in DECIPHER. The second will enable participants to bring along their own cases/data for analysis and further discussion in an MDT-like session, with input from fellow clinical scientists and clinical geneticists, and expert speakers.

    First held in 2008, this course is endorsed by the Clinical Genetics Society and the Royal College of Physicians, London, for continuing professional development of clinical geneticists and is relevant for revalidation. This course has been awarded 18 CPD credits by the Royal College of Physicians.

    To optimize discussions and interactions, numbers are limited; therefore, early registration is advised. Please note that we may need to limit the number of places allocated to each centre/institute to increase diversity on the course.

  • Programme

    The course will begin at 10.00 on Wednesday 29 January and finish at ~16.00 on Friday 31 January 2020.

    The following topics will be covered:

    • Molecular mechanisms of disease
    • Risk estimation & penetrance
    • Resources for genomic medicine
    • ACMG variant classification
    • Tools used in DECIPHER
    • Variant interpretation workshop
    • Cancer and cardiac genetics
    • Integrating phenotype and genotype for safe practice in genomic medicine
    • Multidisciplinary meetings


    • Variant interpretation
    • Phenotype entry and variant interpretation – bring your own cases/data to work on (in rare disease, cardiac and germline cancer)

    Please bring your labtop to the couse.

    This is a residential course. All participants are requested to stay onsite for the full duration to benefit fully from discussions and interactions with speakers and other participants.



  • Learning outcomes

    After attending the course, participants will be able to:

    • Describe the current concepts in genomics
    • Consider the sensitivity and specificity of various approaches to genomic analysis (e.g. filtering strategies, virtual panels, whole exome sequencing/whole genome sequencing, proband only and trio analysis).
    • Select appropriate resources (e.g. ExAC, gnomAD) to evaluate variants.
    • Conduct varient interepration analysis on your cases/data
    • Evaluate phenotype and genotype using DECIPHER ACMG variant classifier, citation tool and clinical fit tool
    • Appraise the principles and practice of MDMs, so that you are cognisant of the challenges and risks of evolving the pathway for genetic diagnosis
  • Instructors and speakers

    Scientific programme committee

    Kate Tatton-Brown,

    Kate Tatton-Brown,
    St George’s Hospital, UK

    Sarah Bowdin

    Sarah Bowdin
    Cambridge University Hospitals, UK

    Helen Firth

    Helen Firth
    Cambridge University Hospitals, UK

    Confirmed speakers

    A full list of tutors/speakers will be available shortly


    Advanced Courses and Scientific Conferences Team

    Zoey Willard – Conference & Events Organiser
    Treasa Creavin – Scientific Programme Manager

  • Cost and bursaries
    Cost Accommodation / meals
    *Course fee £TBC This is a residential course and the fee includes all accommodation and meals.

    *The course fee is subsidised by Wellcome Genome Campus Advanced Courses and Scientific Conferences and applies to non-commercial applicants.


    A limited number of registration bursaries for trainees are available to attend this course (up to 50% of the standard fee) from Wellcome Genome Campus Scientific Conferences.

    The following documents will need to be provided:

    • CV
    • A justification letter (explain how you will benefit from attending the course)
    • A supporting letter from supervisor stating financial need

    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.

    Bursary deadline: 27 November 2019

    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.


  • How to apply

    Applicants should be clinical geneticists or clinical scientists delivering genetic healthcare.

    How to Apply
    Please click on the application link and follow the instructions. Places are limited and will be awarded on merit.  The bursary and application deadline is 27 November

    Travel visas
    Successful applicants will be provided with a support letter for their visa application, if required.

    Please visit the following websites for further information on visiting the UK:

  • Testimonials

    Feedback from the previous course:

    “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”