At the conference
The morning started with a well-attended and insightful keynote speech from Professor Dame Sue Hill, Chief Scientific Officer, NHS England. The topic was: The NHS Lays the Foundation to Enhance Their Long-Term Strategy. Some of the areas Dame Sue Hill discussed were harnessing technology to address gaps in care quality, inequalities and sustainability; improving outcomes through personalised medicine; the transition to future care; challenges in delivery; the evolution of NHS genomic testing and the ongoing development of NHS genomics.
I also attended a panelled discussion on The Role Patients Play in Controlling Their Own Health and Care. The Moderator was Dr Anna Middleton, Chair, Association of Genetic Counsellors and Nurses.
The panellists were:
The discussion centred on genomics testing and the ethical implications for patients, their families and how data is used and shared. The panellists talked about the importance of empowering patients, that they know how their data is used, and that they understand the risks and benefits of testing.
One of the panellists, Dr Jillian Hastings Ward, was enrolled along with her husband and son in the 100,000 Genomes Project. For the first few months of their son Sam’s life he appeared to be in good health, however his parents noticed he wasn’t making visual contact and they found out that he was blind. They also learnt that he wasn’t progressing intellectually.
After his diagnosis they were told about a pioneering scheme, the 100,000 Genomes Project. The sequencing of 100,000 genomes of individuals affected by rare disorders or cancers. The family took part and their DNA was sampled, each of their genomes, their entire complement of genes were then sequenced. They found that Sam had a fault in the gene Grin-1, which is a rare mutation that causes moderate to severe intellectual disability, low muscle tone, and in some cases seizures.
Hearing from someone in the medical profession with their own personal experience of a rare condition it struck me that so many people in the UK and in deed across the world have been touched in some way by a rare condition. A conference like this brings people together to share their experiences, and through collaboration, knowledge and experience we can empower individuals, making them feel less isolated, in the knowledge that there are others out there, who although do not necessarily have the same condition, are going through similar experiences and frustrations. It also helps to build a healthcare service that better services the patient and advances the care and treatment available to us all.
Rare Revolution Editor