Course description from ACSC website:
We are pleased to announce the fifth 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 disorders.
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 all the terminology that will be built upon in the course.
The course is suitable for genetic counsellors practising in the UK or internationally. We also welcome applications from nurses delivering genetic healthcare. The course has been designed so that it is relevant for use by genetic counsellors in their GCRB registration. 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.
Middleton A (2019) Designed and co-delivered the yearly Genomic Practice for Genetic Counsellors course. Advanced Courses and Scientific Conferences, Connecting Science, Wellcome Genome Campus. Cambridge UK, 7 February