Day 3 – Creating connections with patients

Part of #GenomicsConversation Week: 3 to 7 November

Today’s focus is on creating connections with patients.

Not only does the right test at the right time start with the right conversation, but connecting with the public and patients with lived experience throughout healthcare delivery is essential to creating meaningful change within the NHS.

Many people with rare conditions face a long and challenging journey to diagnosis. This is often referred to as the ‘Diagnostic Odyssey’.

When a patient presents at clinic, they may have already gone through referral loops and seen multiple healthcare professionals across different specialities. Genomics has helped many patients with rare conditions to get a diagnosis, but it’s essential we recognise the physical and mental effects of living with an as of yet undiagnosed condition.

This Genomics Conversation Week, we’re asking healthcare professionals to think of their patient’s journey as a whole. To stop and question: Could my patient have a genetic condition and should I consider testing? Their journey could end with you.

To find out more on the Diagnostic Odyssey, listen to Genomics England’s bitesize podcast by clicking here.

If you need any support, your regional Genomic Medicine Service is here to help you with signposting, education, and guidance on how to order tests.

To help celebrate today’s theme, we have three patient stories to share!

Alison’s story

Alison Fielding is chair of our Patient & Public Voice Committee. For several years, Alison has been sharing her lived experience of inherited cardiomyopathy to advocate for policy and practice changes.

In honour of Genomics Conversation Week, Alison shared with us why it’s so important to connect with patients throughout healthcare delivery to create meaningful change within the system.

Lisa’s story

Lisa’s life changed significantly when two of her sisters passed away from a hereditary aortic dissection.

Their deaths have encouraged Lisa to bring attention to the importance of genetic testing for inherited conditions and help other families affected by an aortic dissection.

David and Eleanor’s story

When Eleanor gave birth to David, she had no idea that their diagnostic odyssey was just beginning or that genomics would one day give them an answer.

David is one of only a few hundred people in the world diagnosed with Okur-Chung Neurodevelopmental Syndrome (OCNDS).

Genomics Conversation Week Themes