Banner Default Image

7th January 2019 - A day to celebrate!

7th January 2019 - A day to celebrate!

about 2 years ago by Steve Smith

Celebrating the publication of the NHS 10 year plan

The NHS published its much anticipated Long Term Plan today, Monday 7th January 2019.

"The NHS will be the first health service in the world to offer whole genome sequencing for children with cancer and young people who have a rare genetic disorder, in addition to adults suffering from certain rare conditions or specific cancers."

We still have many hurdles to jump over before we cure the of the big ones in the rare disease world being (early) diagnosis. Low patient numbers creates ripple effects such as lack of KOL knowledge in these low prevalence disease areas, thus leading to patients sometimes going an entire lifetime without ever receiving a diagnosis. As many of these diseases are also genetic, the majority of patients are kids who's life expectancy is often only in single figures. Therefore, the new NHS England's 10-year plan sounds like something to celebrate today. It is to include providing early diagnosis of rare genetic diseases to help select best treatment routes.