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  • UK Practice Guidelines for Variant Classification 2019

    posted on 17th April 2019  |  0 Comments  |  Not tagged.

    Posted from: ACGS

    The latest draft version of the ACGS UK Practice Guidelines for Variant Classification are available for review.

    Any comments/ammendments should be sent directly to Professor Sian Ellard: by the 23rd April 2019.

  • In remembrance of Una Maye 08/11/1968 – 28/03/2019

    In remembrance of Una Maye 08/11/1968 – 28/03/2019

    posted on 8th April 2019  |  0 Comments  |  Not tagged.

    Posted from: ACGS

    Una first came into the Genetics Profession as a fresh faced graduate, straight from University, having graduated with a 2:1 (Hons) BSc in Applied Biology, from the University of Hull in June 1991, Una was eager to learn, from that first interview we knew she was special and she didn't let us down. Una joined the Christie Hospital Oncology Genetics Service the same month she graduated and became one of the first Trainees to undertake the ACC Grade A Trainee Clinical Cytogenetics Programme, spending time training at both the Christie Hospital and St Mary's in Manchester. She passed her assessments with flying colours and became a Registered Clinical Scientist in 1993. She worked as a Clinical Cytogeneticist at the Christie Hospital until 1999, where she very quickly developed into a competent Scientist and was involved in making the Oncology Service a centre of excellence for Haematological Malignancy Diagnostics - Una called the Team 'The Dream Team'!

    Una joined the Genetics department at Liverpool Women's Hospital in 1999, initially as a Principal Scientist, but more recently as a Consultant Clinical Scientist. Una worked across Constitutional and Oncology disciplines, managing teams and supervising the safe and efficient delivery of the service. Writing and authorising reports, with an attention to detail like no other, and always with the patient at the centre of everything she did. Una always made time to discuss complex results with colleagues and clinicians, she had such an incredible depth and breadth of knowledge and the patience to explain things methodically and with clarity.

    Una was known across the UK for her expertise in Array CGH technology having implemented the use of arrays in Liverpool from 2008. She was fundamental to the successful transition of arrays to frontline testing and onward mainstreaming of this service in the North West. She was often called upon to take up national roles; Una was the local PI for the EACH Study and was invited to join a 'national review' panel, to discuss difficult cases to guide the management of complex pregnancies. The impact of this study resulted in a safer service to patients with more informed choice.  Una was also part of the Clinical Review Panel for the PAGE study, whose role it was to assess the analytical and clinical validity of candidate pathogenic variants. More recently, Una was invited to join a European Rare Disease Working Group, as a UK Array CGH expert, in collaboration with a commercial partner and four other European Genetic Centres, in a joint initiative to look at the clinical testing pathways of patients undergoing SNP array and clinical exome testing. Consequently, Una was involved in many scientific publications and called on to talk at national and international conferences. In addition, Una was a member of the National Genetics Specialist Advisory Group, and the Scientific Sub Committee of the ACGS. Una was involved as part of a small team of experts across Liverpool Health Partners (LHP) in putting together a successful bid for the NHS Genomic Medicine Centre for the NW Coast, delivering the 100,000 Genome Project, and helped to write the successful tender bid, in collaboration with Manchester University (MAHSE), to deliver the MSc component of the Genomics STP program in the NW.

    Una was passionate about training and developing others and had significant responsibility for training within the department and across the NW Coast, organising joint training meetings across the Liverpool laboratories and providing genomic training across the GMC and to its local delivery partners.  Una dedicated her life to the NHS, the Clinicians she worked with and their patients, but most of all she gave her time endlessly to her 'work family', each and every one of us. The legacy Una leaves behind is the great Scientists that she has trained, nurtured and inspired, and the best way we can honour her memory, is to ensure her investment in us, is not wasted, and that we all become the very best versions of ourselves, so that she would be proud.

    Angela Douglas

  • ACGS Summer Meeting 2019 Registration

    ACGS Summer Meeting 2019 Registration

    posted on 2nd April 2019  |  0 Comments  |  Not tagged.

    Posted from: ACGS

    We're delighted to announce that registration for the ACGS Summer meeting, taking place at the ICC on the 10th-11th June 2019, Birmingham, is now live.

    You can view full, updated, details of the meeting, along with rates to register, by clicking here.

    You can book by logging into mySociety then clicking on "events and conferences" at the top of the screen. You can also submit an abstract this way using the "submit an abstract" button and directly uploading an abstract.

    Please include in the abstract submission (these will not contribute to the word count):

    • Title

    • Authors and affiliations (for the presenting author please include job title, band and whether you are a member of the ACGS)

    • Contact email address

    • Type of abstract submission: Poster presentation / oral presentation / don't mind

    • Word count for the abstract

    Please note - the word count limit for abstracts is 250 words - any submissions over this word count limit will not be accepted.



    Day 1: £100 ACGS/BSGM member (£150 non-member)

    Day 2: £100 ACGS/BSGM member (£150 non-member)

    Both days: £150 members (£250 non-members)


    The deadline to submit an abstract is the 14th of April 2019


    We look forward to seeing you at the conference.

  • Updated Standardised report templates for 100,000 Genomes Project

    posted on 2nd April 2019  |  0 Comments  |  Not tagged.

    Posted from: ACGS

    A revised set of templates (v1.1) has been uploaded to the ACGS Members' area together with updated Explanatory Notes (2019) for their use.

    In response to user feedback the changes are:

    1)      Title is now "GENOMIC LABORATORY REPORT"

    2)      The authorising clinical scientist name is included (with their qualifications)

    3)      A sentence has been added to the result section for heterozygous parents to describe their variant and state that they are a carrier of the disorder

    4)      Minor grammatical corections

    5)      Use of PMID numbers for references

    Development of report templates for non-100,000 Genomes Project results is in progress. If you'd like to contribute to this work please e-mail one of us.

    Sian Morgan (ACGS QSC Chair) and Sian Ellard (NHSE Rare Disease Validation & Reporting Group)

  • Genetic Technologist/Healthcare Science Practitioner Training Day 2019

    posted on 10th January 2019  |  0 Comments  |  Not tagged.

    Posted from: ACGS

    THE Association for Clinical Genomic Science (ACGS) and the Exeter Molecular Genetics Laboratory are pleased to announce that the next Genetic Technologist Training Day will be held on Monday 11th March 2019 in Cardiff.

    The meeting is free to attend. Registration is open to 2 people per laboratory in the first instance. If you would like to attend, please complete the registration form and return by the 31st January 2019 to:

    The venue is close to the Cardiff city centre and therefore easily accessible from Cardiff Central station by either public transport or taxi. There is plenty of parking available in Cardiff Bay too if you decide to drive.

    We are looking for volunteers to present on technical topics, technical developments, challenges, lab reorganisations or anything else that can be educational to wider community. Please email Anna-Marie with the topic you would like to present on as soon as you can. There will be 15mins allocated for each presentation.

    If there are spare places available, it will get opened up to more people. This is to ensure fair representation from labs across the UK. Make sure you tell us which topic you would like to discuss in an afternoon focus group so that everyone can benefit from the day as much as possible.

    If you have any questions or need any further information, please contact Anne-Marie by email (see above).