• 10th November 2020

Chair’s update: Autumn 2020

This update comes to you from a very cold and rainy Leeds, which is now in accordance with popular opinion, after the unseasonably warm August of my previous update!

BSGM Officers

I have been chairing of BSGM for a year now, it has not been a very normal year. However, my term of office ends in October 2021, and the society would be very keen to hear from any members who would be interested in taking over the role at that point. I shall stay on as vice-chair for a year to provide any help I can, I promise not to interfere! It is very important that we maintain a unified voice for the community, so applications from all branches of the UK Clinical Genetics community would be welcomed.


Unfortunately, COVID-19 has been the main story of this year, and remains so. I think that most of our colleagues who were re-deployed over the first six months of the year have now come back to Genetics. Unfortunately, we in Yorkshire are joining our other Northern Colleagues in going into Tier 3 lockdown, the conditions for which are similar to the previous lockdown. However quite a lot of activity has continued online over the summer.

Clinical Reference Group (CRG)

As many of you in England will know NHSE have re-established the CRG. The CRG had its first meeting in February and identified as a key item the development of a new service specification for Clinical Genetics Services in England. There were plans for a considerable amount of activity in this arena over the spring of this year, however COVID-19 put paid to those. The second meeting of the group took place online on 22/07/2020. Further meetings of the CRG Service Spec writing group took place over the summer and a draft of the service specification is well advanced. There will be a further meeting of the CRG to finalise the draft Specification before Christmas this year. The CRG has been led by Prof Bill Newman from Manchester during this time, and I think he deserves a great deal of thanks for his patience and skill in driving this process forward.

National Test Directory

As you know the National Genomic Test Directory specifies which genomic tests are commissioned by the NHS in England, the technology by which they are available, and the patients who will be eligible to access to a test. The first iteration was published in August 2018. Amendments and updates were published in October of this year. The process whereby these amendments were arrived at for the 2020/2021 iteration was somewhat informal and ad hoc. The CRG signed those updates off in the Summer, but stressed that a much more transparent process for arriving at such amendments was needed. This was agreed with the NHSE Genomics Unit. NHS England and NHS Improvement have launched a consultation in relation to the management and updating of the National Genomic Test Directory for the NHS Genomic Medicine Service (GMS). This consultation will seek feedback on the proposed process for updating the National Genomic Test Directory to ensure that it is kept up to date with current testing and technologies to get the best possible diagnostic and clinical outcomes for patients, and to ensure testing is available for all patients for whom it would be of clinical benefit.

Feedback received via the consultation will be evaluated by NHS England and NHS Improvement and used to inform any changes required to the approach to updating the National Genomic Test Directory. You should all have received and email outlining the process, a link to the website is available here:

I know that this is an NHSE document, but it may well have an influence on developments in the devolved nations, so responses from all parts of the clinical community will be valuable. If you are representing the devolved Nations and don’t feel that a direct response to NHSE is the correct one, you can of course reply via the society. I would like the society as a whole to respond to this consultation process if possible. You can respond directly to the consultation, or submit comments to myself to BSGM (membership@bsgm.org.uk) using the subject line Genomics Consultation. This would allow the BSGM to respond as an organisation, serving to maintain our role as a voice for our whole community.


A further point to mention is the annual BSGM conference and meeting which was planned for October 8th this year had to be cancelled. However, we are excited to announce that the intention is to hold a joint BSGM and ACGS Conference from Tuesday January 19th- Wednesday January 20th 2021. The event will be held virtually and “live from your living room”. Outline details are available on the BSGM website here. Abstract submissions opened on Tuesday 13th October 2020 and closed on Sunday 8th November at 17.00hrs. You can access details of the meeting via the mysociety page on the website here 

We are very fortunate in having Mary Claire King to speak this year, she is a very distinguished member of the US Clinical Genetics Community, but has many, many strings to her bow including a long-term commitment to human rights issues, and the use of Genetic analysis to further that end. There is a fascinating interview with her available on the Genetics Unzipped site here.

The AGNC, CGG and CGS will also be holding their own independent conferences as well as being part of this larger joint event. This will be an opportunity for us to come together and to hopefully celebrate coming out of the COVID-19 crisis at last. Another event on the horizon is the European Human Genetics Conference 2021, which is scheduled for Glasgow, next year and will run from June 12-15, 2021. Details will be available from the ESHG website in due course.