Rare Disease Day 2014: 6 key questions about rare diseases

February 28 is International Rare Disease Day for 2014. To mark the day we offer answers here to 6 key questions about rare diseases and their treatment in the UK

1) What is a rare disease?

The UK’s Department of Health define a ‘rare’ disease as one which:

  1. has an incidence of less than 1 in 2000 people
  2. and is a life-threatening or chronically debilitating disease
  3. and requires special combined efforts to enable patients to be treated effectively. Continue reading

Your views wanted on genetics and genomics occupational standards

Stakeholder consultation on review of occupational standards for genetics and genomics for non-genetics health professionals

Following the completion of the first phase of revising the workforce competences – where we obtained input from experts in various healthcare sectors including oncology, cardiology, diabetes, ophthalmology, general practice and public health ­– the National Genetics and Genomics Education Centre (NGGEC) has revised the current suite of National Occupational Standards (NOS) developed in 2007. The revisions have been undertaken to reflect advances in genetics and genomics since then.

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Should genomics be incorporated into the National Occupational Standards for Genetics?

In conjunction with Skills for Health, the Centre is reviewing and revising the National Occupational Standards for Genetics. These form the framework of genomics and genetics knowledge required by non-genetics healthcare staff http://www.geneticseducation.nhs.uk/for-service-developers-126/workforce-competences/competence-framework.

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