28/02/2026
For , we hear from Dr Freedman: Our Deputy Medical Director and Deputy Senior Responsible Officer for the Midlands and East 5 Pathology Network (Bedfordshire Hospitals, Cambridge University Hospital and North West Anglia Hospital Pathology Services):
"Laboratories are essential to screen for, diagnose, and monitor patients with rare diseases. Historically, many rare diseases were considered to affect only children, but increasingly we work with clinicians seeing adult patients, to either diagnose or help manage these conditions.
“Our Pathology laboratory staff work closely with other specialists in our hospitals, along with tertiary centres, to care for patients with rare diseases: when our expert clinicians identify rare diseases as a possible cause of a patient’s symptoms, they identify the right tests needed, provide high quality laboratory testing, and interpret the test results.
“Laboratories will play a critical role in delivery of the NHS England Rare Diseases Action Plan, which focuses on improving diagnosis speeds, coordination of care, access to specialist treatment, and awareness among healthcare professionals.”