​​​​​Transforming modern medicine through genomics medicine​


Cutting edge progress in the work of genomics was under the spotlight at the recent Achieving Ambitions in Genomics Medicine national conference, organised by the UK Genetic Testing Network, a national organisation, hosted by the South East CSU. 

The continuing advancements in genomics medicine is changing the way medicine is diagnosing diseases, using genetics to understand the cause of diseases, develop tests and improve treatments. 

International experts, eminent professors, academics, medics and representatives from the Department of Health joined with other health workers and representatives from patient organisations for people with rare genetic conditions at the Royal College of Physicians for the event. 

Presentations explored the UK Rare Disease Strategy with updates on the development of plans by each UK country, the work of Genomics England and on the proposals for Public Health England to implement a national rare disease register.

Professor Keith Stone said: "It's exciting to hear about the progress being made thanks to the mapping of the genome. This work will allow modern medicine to transform in the near future as we are able to predict and understand genetic disease better."


"We also heard from two mothers of children affected by rare disease – providing powerful, moving reminders of why this work is so important for patients and their families.

"Going forward, our CCG customers will be able to benefit from the work of the UK Genetic Testing Network team that has a freely available online database showing member laboratories and the genetic tests that they provide."

The UK Genetic Testing Network also launched its fourth biennial report detailing the team's work over the past two years, new genetic tests evaluated and recommended, lists of member laboratories, clinical criteria for testing breast cancer genes (BRCA1 & 2) and more which can be found at www.ukgtn.nhs.uk.​