Genomic Practice for Genetic Counsellors

6–8 February 2018

Wellcome Genome Campus, Hinxton, UK


We are pleased to announce the fourth in our series of courses for
genetic counsellors. This course aims to meet the training needs of
genetic counsellors as they upskill in response to the introduction of
genomic sequencing in the clinic.

The programme will provide an introduction to the fundamental aspects of
genomics and bioinformatics that underpin clinical practice. It will
focus on the use of sequencing in relation to diagnostics and has been
designed specifically by genetic counsellors for genetic counsellors.
There will be a particular focus on learning how to do variant
interpretation.  For example, workshops will focus on the use of the
DECIPHER database, and the identification of variants in cancer and eye

Attendees will have the opportunity to work with sequence data and
explore how it is created, analysed and delivered. The programme begins
with a refresher session on molecular genetics, which will offer an
overview of the terminology and concepts that will be built upon in the

The course is suitable for practising genetic counsellors both in the UK
and internationally. The course has been designed so that it is relevant
for use by genetic counsellors in their GCRB registration. We also
welcome applications from nurses delivering genetic healthcare. To
optimize discussions and interactions, numbers are limited; therefore,
early application 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.


Following attendance of this course, participants will be able to:

  • Describe genomic terms
    including: reference sequence, EXAC, synonymous, transcript,
    haploinsufficiency .
  • Explain and discuss the
    basic principles of how genomic sequencing is done.
  • Anticipate issues that might
    arise around informed consent for an exploratory sequence.
  • Make judgments about
    appropriateness of single gene, targeted panel or whole sequence analysis,
    based upon clinical questions.
  • Assess and critique the use
    of a variety of visualization tools and databases, such as DECIPHER.
  • Contribute effectively to discussions
    on variant interpretation during multidisciplinary team meetings.
  • Describe and critically
    evaluate the current role of genomics in healthcare.


The course will start at 11.00 on Tuesday 6 February and close at
approximately 15.00 on Thursday 8 February 2018.

Topics will include:

  • Refresher on molecular genetics
  • The role of genomics in healthcare
  • Sequencing and bioinformatics – what does the genetic counsellor need to know?
  • Choosing what to test for and taking consent
  • Sequencing and analysis
  • Variant interpretation
  • Visualising and reporting genomic data

There will also be a guided tour of the sequencing facilities and data
centre at the Wellcome Trust Sanger Institute.

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

A draft programme will be available shortly.

Instructors and speakers

Scientific programme committee
Anna Middleton Wellcome Genome Campus,
Georgie Hall
St Mary’s Hospital Manchester, UK
Marion McAllister
Cardiff University, UK
Christine Patch
King’s College London/Genomics England, UK

Confirmed tutors
Gemma Chandratillake University of Cambridge, UK
Julia Foreman Wellcome Trust Sanger Institute, UK
Georgie Hall St Mary’s Hospital Manchester,
Sue Kenwrick Cambridge University Hospitals, UK
Marion McAllister Cardiff University, UK
Anna Middleton Wellcome Genome Campus, UK
Chris Patch King’s College London/Genomics England,
Simon Ramsden St Mary’s Hospital Manchester, UK
Andrew Read University of Manchester, UK
Steve Scott Wellcome Genome Campus, UK

Event organiser
Laura Hubbard Wellcome Genome Campus, UK

How to apply


Registration with Twin Accommodation £239
Registration with Single Accommodation £304

The fees include accommodation, meals and lectures for the duration of
the course. The fee will be requested once acceptance is confirmed.

This is a residential course. All participants will stay at The Wellcome
Genome Campus Conference Centre, Hinxton, Cambridge, for the nights of 6
and 7 February 2018. For twin accommodation,  roommates will be
allocated on a gender basis.

If you wish to book onsite accommodation either side of the summer
school/course dates, please contact the Conference

Application deadline: 21 November 2017
Travel visas
Please contact the event organiser if you require a letter to support a
travel visa application. Note that letters will be provided to confirmed

Non-European Economic Area or Swiss nationals may be required to have a
visa to enter the UK.
Early application is strongly advised, as this process can take 6-8 weeks
or longer.

Please visit the following websites for further information:
UK Border Agency website or view
information for general visitor visas.


A limited number of registration bursaries are
available to attend this course (up to 50% of the

The following documents will need to be provided:

  • CV
  • Covering letter
  • Letter from supervisor

To apply, please contact the event organiser.

Bursary deadline: 21 November 2017

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