Genetic Alliance UK's monthly update

Policy Updates

Update on the European Union data protection regulation

The trilogue negotiations between the EU Parliament, Commission and Council have now concluded, with a positive outcome for the scientific research community.

Going in to trilogue negotiations we had concerns that the position of the European Parliament may result in regulation that could stifle research. Whilst there is still a lot to do on this issue, the conclusion of negotiations is a big step in obtaining regulation in line with the needs of research. The final text ensures the need for safeguards whilst putting in place measures that will help researchers using health data to continue to deliver the kinds of discoveries that are needed to treat patients with rare, genetic and undiagnosed conditions.

We have been working as part of a coalition of stakeholders on this issue for some time, and will continue to update you on the progress of the regulation.

If you have any questions or comments about this work, please get in touch using the email

Updates from our blog

Louise’s update from the UK National Screening Committee Conference

In December our Policy Officer, Louise, attended the UK National Screening Committee Conference; “Delivering world-class recommendations”. Population screening programmes are of particular interest to many families that are affected by genetic conditions. The newborn bloodspot screening programme, for instance, can diagnose some specific conditions before they get the chance to cause severe disability. In her blog update Louise highlights some of the points made at the conference and developments that can be welcomed by the genetic disease community.

Read this article here.

The horizon for orphan and ultra-orphan conditions in Wales

Our Development Officer in Wales, Emma, updates us on changes for orphan and ultra-orphan access to medicines after a meeting with the Welsh Health Specialised Services Committee (WHSSC), including the procedure for implementing National Institute for Health and Care Excellence (NICE) Highly Specialised Technologies (HST) programme decisions and the interim funding process for groups of patients without commissioning policies.

Read this article here.

Cancer genomics and the 100K Genomes Project

Our Public Engagement and Project Officer, Angela, talks about our project, set to start in January, which will focus on the views of cancer patients who are eligible for the 100,000 Genomes Project. She talks about the increasing importance of genomics in cancer prediction, diagnosis and treatment, and the consequences of genomic sequencing for data and consent.

Read this article here.

Exciting changes to organ donation in Wales

On the 1st of December changes to organ donation legislation in Wales came into force. These changes present an exciting step forward for families with genetic conditions that cause damage to patient’s organs. Changes also pave the way for similar legislation currently progressing through two other devolved legislative bodies in the UK.

Read about these changes, and what they might mean for you here.

25 years!

It's Genetic Alliance UK's 25th anniversary year. Here we'll be telling you about the milestones that we think have been most noteworthy for us over the last 25 years!

Did you know...

We work all over the UK to give patients with genetic conditions a voice. To help us really represent people across the UK in 2007 we appointed a full time member of staff in Scotland - this post is filled by Natalie, our Development Officer in Scotland.


SWAN UK is a Genetic Alliance UK initiative, supporting families who have children with undiagnosed genetic conditions.

They have a very active blog where parents share their experiences of life without a diagnosis, as well as all things SWAN.

Read their blog here.
Rare Disease UK is a campaign run by Genetic Alliance UK with the aim of implementing the UK Strategy for Rare Diseases to ensure that patients and families living with these conditions have equitable access to effective services.
Here are some recent posts from the Rare Disease UK blog:

I’ve signed up for Cancer Genomics :slight_smile: xB

So many rare diseases.

Great hear you joined up for that Beryl. Will be good to get your feedback.

(pity the 100,000 gene project is England only ! (although there is talk of similar projects, to come elsewhere)

yes 7000 - 8000 rare diseases ! although together they are common. plus so many symptoms "overlap"

As I am on the board for the Patient Empowerment group (GAUK ? RDUK) we come across most of them on a regular basis.

this group feeds into the RD strategy oversight board, so we need to be fairly informed.

due to see Marios H. next week, although it looks like a flying visit as public health Wales and local Health board issues call my attendace....


It’s so easy to forget that there are more rare diseases, Ataxia can be all consuming. As you say, many symptoms can ‘overlap’ and make diagnosis lengthy and frustrating.

I think I’d rather have your schedule on Thursday, I have a date with my dentist, for potential major works.

I hope it’s straightforward with Marios, enjoy the rest of the day:-) xB

Thank You

Pob Lwc / Good Luck with the dentist

maybe of interest to you

Call for members of new Participant Panel