England’s first Rare Diseases Action Plan published.

The plan sets out actions to tackle the Framework’s four priority areas of:

-helping people get a diagnosis faster

-increasing awareness among health care professionals

-better coordination of care

-improved access to specialist care, treatment and drugs.

The plan’s action points include a focus on newborn screening so diagnosis can be made earlier, with a new research pilot using whole genome sequencing to screen for rare genetic conditions in healthy newborns, along with improvements to the way the UK national screening committee makes decisions on rare diseases.

They also include developing a toolkit for virtual consultations to increase the effectiveness of video conference and telephone clinic calls, making it easier to coordinate care between different specialists without the need to travel long distances.