With the completion of the 100,000 Genomes Project, genomic medicine has been put in the spotlight. With over 80% of rare diseases having a genetic basis, it is more important than ever that patients really understand the processes and outcomes of genetic testing, sequencing, and diagnosis. However, this is a complex scientific area, and for many receiving a diagnosis can be an isolating and overwhelming time.
In this RareChat, we want to discuss your feelings and experiences on receiving a genetic diagnosis and the gene-focused future of medicine. We are interested to know whether this is an area that the community feels it needs support with, as well as any knowledge gaps or problems you are facing in this area.
If you, like many, have ever felt confused or lost after coming across genetic jargon or even your own diagnosis, this is your chance to share your thoughts, fears, and questions with others in the same position. You’ll also be helping to inform speaker choice and content for our future educational series on this topic.

Join us to discuss
- Does the community need support and training on genetic diagnoses?
- What do you feel are the issues patient groups face around genetic diagnoses?
- What are your experiences of accessing and receiving a genetic diagnosis? Do you know your rights around whole genome sequencing?
- Are the resources offered at the point of genetic diagnosis good enough or clear enough for genetic diagnosis? Have you had experience with genetic counselling?
- What do you see as the future for genomics and genetics and their impact on the rare disease community?
Come along to share your opinions and hear from your fellow patient group leaders. Spaces are limited so sign up now!
Please note, this is a discussion, not a training event, which will go to inform Beacon’s plans for later trainings. Register to express your views and hear what your fellow leaders feel and have experienced in the field of genetic diagnosis.

What is RareChat?
RareChat is a chance to connect informally with other patient group leaders and advocates in the rare disease community. Each session will have a carefully selected theme and a Beacon team member to chair the discussion.
The sessions are designed to provide a space for the rare community to connect, share experiences and ideas informally, as opposed to recieving training on the topic.
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