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Whole genome sequencing

Whole genome sequencing (WGS) has been launched across all seven GLHs to test for the rare disease, solid tumour and haematological malignancy indications that are listed in the National Genomic Test Directory.

WGS tests currently include
  • Sarcoma
  • Solid tumours and haematological malignancies in the young
  • Acute leukaemia
  • Eligible rare diseases (NGTD Identification code - R code braacketed in following list)
  • Congenital malformation and dysmorphism syndromes (R27)
  • Intellectual disability (R29)
  • Hereditary ataxia with onset in adulthood (R54)
  • Early onset or syndromic epilepsy (R59)
  • Childhood onset hereditary spastic paraplegia (R61)
  • Hypotonic infant with a likely central cause (R69)
  • Arthrogryposis (R83)
  • Cerebellar anomalies (R84)
  • Holoprosencephaly (not chromosomal) (R85)
  • Hydrocephalus (R86)
  • Cerebral malformation (R87)
  • Severe microcephaly (R88)
  • Ultra-rare and atypical monogenic disorders (R89)
  • Likely inborn error of metabolism- targeted testing not possible (R98)
  • Rare syndromic craniosynostosis or isolated multisuture synostosis (R100)
  • Skeletal dysplasia (R104)
  • Childhood onset leukodystrophy (R109)
  • Neonatal diabetes (R143)
  • Cystic renal disease (R193)
  • Other rare neuromuscular disorders (R381)

More information on WGS for Rare and Inherited Disease can be found here.

Genomic Medicine Service WGS Portal

The GMS WGS Portal can be used to search for available clinical indications and eligibility criteria. You must be using an NHS computer to use this portal.

Patient choice and consent

Whole genome sequencing (WGS) in the NHS involves a patient choice consent model, which covers both the clinical implications of a test as well as an offer to participate in the National Genomic Research Library, within the clinical pathway.​ This enables the patient (or their family) to make an informed decision about the testing.

WGS testing therefore requires special considerations for discussion with patients and families and a specific WGS test request form for most indications. Each patient’s (and family members’ where relevant) choices are captured via a nationally standardised record of discussion (RoD) form and additional forms where relevant. In order for WGS results to be released to the GLH, an RoD must be received by the GLH for each individual undergoing WGS. Further detail can be found here.

The Record of Discussion form is available in a number of languages. These are available here.

Please ensure the correct order form is used. There is one for rare and inherited disease tests and a separate one for cancer.