Using the Electronic Health Record to identify patients with rare diseases and to support clinicians with diagnosis
My Topol fellowship problem / project:
As a Clinical Geneticist I diagnose patients with rare diseases. Although individually rare, collectively, 1 in 17 people have a rare disease, making them a significant population. However, each patient faces a long diagnostic odyssey before they are confirmed to have a genetic condition because:
- Clinical diagnosis is difficult.
- Symptoms can be multi-system and non-specific.
- There is a lack of knowledge amongst health professionals about rare diseases – both of symptom diagnosis but also of the correct test to order.
- Even once a diagnosis is made, most clinicians are not aware of the resources available for them and their patients to understand and manage the condition better.
Genomic testing is now widely available through the NHSE National Genomic Test Directory, but there is inequity of access to these tests due to lack of recognition and awareness. My project aims to harness the potential of our Electronic Patient Record (EPR) and use it in a more automated way to identify patients with potential genetic conditions. Once identified, I want to help clinicians navigate the next steps to make a diagnosis, and following this, to direct them to further resources both for themselves and their patients, all via the EPR.
I am a Consultant in Clinical Genetics and Specialty Lead for the East Anglian region. I am also lead for the Cardiac Genetics service and joint lead for the Prenatal service. I have always had an interest in implementing new genetic testing technologies and broadening access for better patient care. I am a keen proponent of using new technological decision aids to help in genetic diagnosis and in the interpretation of genetic test results.
I have worked with other departments to ‘mainstream’ genetic testing.
In 2018 I went to Australia for a year to understand differences in healthcare systems and delivery of a service over a broad geographical area, where I learned to use Telehealth which has come in useful since being back in the UK.