National Genetic Technologist Training Day 2017

National Genetic Technologist Training Day 2017


Life Sciences Hub, Cardiff

Wednesday, 22nd November 2017

Programme available. Please click on the hyperlinks within the table for the available presentations.

Please note that the ACGS is not responsible for and has not peer reviewed the contents of the presentations from this meeting.

10.00 - 10.30                      Registration and tea & coffee

10.30 - 10.35                      Welcome, Justyna Tull (Cardiff)



Presented by

10.35 - 10.50          

Update from ACGS and WDC & Registration routes

Michelle Fenlon, Birmingham

10.50 - 11.05          

Reorganisation of genetic services

Emma Clark, Sheffield

11.05 - 11.20

Exeter's experience of trying to keep up with demand for NGS

Anna Bussell, Exeter

11.20 - 11.35          

Interpretation of novel variants

Lewis Pang, Exeter

11.35 - 11.50

Electronic stock control system to meet UKAS requirements

Fiona Byrne, St George's

11.50 - 12.05

Review of recent automation improvements and ideas for the future

Catherine James and Jennifer Stobbs, Newcastle

12.05 - 12.20

Organisational challenges faced by Bristol's Genetics Laboratory in the last 18 months

Stuart Cook, Bristol

12.20 - 12.35

Droplet digital PCR for low level ctDNA detection in Non-Small Cell Lung Cancer

Robert Beer, Cardiff

12.35 - 12.50

Running the MLPA service in Cardiff

Hoi Weeks, Cardiff

12.50 - 13.05

Sheffield's experience of the GMC project

Sarah Hart & Rebecca Sheppard, Sheffield

13.05 - 13.20

Non-Invasive Prenatal Diagnosis (NIPD) of Single Gene Disorders

Samantha Court, Birmingham


13.30 - 14.30                      LUNCH (kindly sponsored by Hamilton Robotics and Illumina)

14.40 - 16.00                      FOCUS GROUP discussions

16.00 - 16.15                      Summary and good bye

    Latest News

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    posted 5th February 2018  |  0 Comments

    Association for Clinical Genomic Science (ACGS) has entered into a formal affiliation with the ClinGen Inherited Cardiomyopathy Expert Panel (CMP-EP). We will be working jointly to adapt the ACMG/AMP variant classification guidelines for genes associated with hypertrophic cardiomyopathy (HCM). This work is an extension of the ClinGen CMP-EP's recommendations for MYH7 variant classification. ClinGen and ACGS have a shared goal of developing standardised genomic variant interpretation guidelines for improved patient care. The contribution of genomic and phenotypic data from both groups, as well as collaboration in the decision-making process, represents a first step in global development, acceptance, and use of a common set of specified guidelines.

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