| answer text |
<p>The United Kingdom National Screening Committee (UK NSC) regularly reviews over
100 conditions, including some rare diseases, to ensure that we continue to offer
a world class screening programme. In the Newborn Screening Programme, the UK NSC
has recently reviewed Adrenoleukodystrophy and is in the process of reviewing 22q11.2
Deletion Syndrome to assess its suitability for a population-based screening programme.
It is important that the addition of any new conditions to the newborn blood spot
programme or any population screening programme, is supported by robust peer-reviewed
evidence.</p><p>The UK Rare Diseases Framework provides the high-level direction for
rare diseases including improving diagnosis rates. The Framework’s priorities will
be implemented through nation-specific action plans which will outline the specific
commitments from each UK nation.</p>
|
 |
