12 patient groups selected for whole genome sequencing

Published 05-02-2021

Over the next four years, up to 60,000 genomes from patients will be sequenced via the Danish National Genome Center's infrastructure.

Now the first patient groups have been selected among 72 proposals and in total 34 proposals are grouped into 12 overall patient groups.  CEO of the Danish National Genome Center Bettina Lundgren says:

 ”I would like to acknowledge that we can tick off that an extensive involvement effort among professionals and decision-makers has borne fruit – we have now selected 12 new patient groups for whole genome sequencing (genetic analysis). Now we need to initiate thorough clinical preparatory work so that the new patient groups can be included in the national infrastructure. This will be done by setting up a number of national, advisory specialist networks, which among other things will work with clinical delimitation of the selected patient groups.

The 12 selected patient groups are:

  1. Children and young people with cancer (up to 18 years) and hereditary cancer
  2. Hereditary haematological diseases, including children and young people with unresolved cytopenia (patients with blood diseases, e.g. leukaemia)
  3. Endocrinological patients (e.g. patients with diabetes, goitre and metabolic diseases etc.)
  4. Primary immune deficiency diseases (e.g. patients, who suffer from recurrent infections)
  5. Hereditary heart diseases
  6. Psychiatry (Children and young people)
  7. Kidney failure
  8. Rare diseases in adults
  9. Neurogenetic patients (e.g. patients who suffer from paralysis)
  10. Haematological cancer (e.g. lymphoma)
  11. Fetal medicine (e.g. fetal diagnostics)
  12. Incurable cancer

Before the patient groups can be offered whole genome sequencing at national level, a number of national, advisory specialist networks must be set up with members appointed by the regions and the Danish Medical Societies as well as representatives from the Danish Clinical Quality Program – National Clinical Registries (RKKP) and Danish Patients.

All have been notified directly of the result of their proposals. There will be a new round of proposals starting in the first half of 2021.