Updates to the National Genomic Test Directory: October 2022
Update
Updates to the National Genomic Test Directory: October 2022
An updated version of the National Genomic Test Directory, which specifies which genomic tests are commissioned by the NHS in England, was published on the 31st October 2022. A number of changes have been made which impact the genomic tests for Cancer and Rare and Inherited Diseases. Please find a list of the core changes here.
The North Thames GLH delivers these tests for patients across North London and much of Essex and Hertfordshire. Please visit the section for healthcare professionals if you need further information about ordering a genetic test and ordering whole genome sequencing for your patients.
Updates to the National Genomic Test Directory for Cancer
New Clinical Indications
Group
Test and Indication
Changes made
Haematological Tumours and Solid tumours
M242 Patient receiving solid organ transplantation
CITT M242.1 and M242.2 available for any patient receiving solid organ transplantation (only in cases where passenger lymphocyte syndrome is suspected)
Solid Tumours
M243 Thymic Carcinoma
CITT M243.1 available for patients with Thymic Carcinoma with KIT as target gene
M244 All solid tumours for NTRK1/2/3 testing
CITT M244.1 available for All solid tumours for NTRK1/2/3 testing by FISH
New indications for Cancer WGS
Group
Test and indication
Solid Tumour
M226 Cancer of Unknown Primary by WGS. In both adult and paediatric population. Can be performed at any stage of presentation (e.g., diagnosis, progression, relapse).
Changes to directory
Group
Test and Indication
Change made
Haematological
M80 Acute Myeloid Leukaemia
BCR-ABL1 TKD sequencing test method changed from Sanger to NGS panel
M84 Chronic Myeloid Leukaemia
BCR-ABL1 TKD sequencing test method changed from Sanger to NGS panel
M89 Acute Leukaemia Other
BCR-ABL1 TKD sequencing test method changed from Sanger to NGS panel
M91 Acute Lymphoblastic Leukaemia
BCR-ABL1 TKD sequencing test method changed from Sanger to NGS panel Added IKZF1 SNV testing Added TMPT & NUDT15 genotyping
M85 Myeloproliferative Neoplasm
CHEK2 gene target removed
M224 MDS/MPN
CHEK2 gene target removed
M88 Juvenile Myelomonocytic Leukaemia
CHEK2 gene target removed
M94 Chronic Lymphocytic Leukaemia
SNP Array added as an alternative technology for CNV detection
Neurological
M26 Ependymomas- paediatric
Clinical indication name changed from ‘Ependymomas Paediatric’ to ‘Ependymomas Adult’ Methylation profiling permissive to support testing where anatomical position of the ependymoma indicates posterior fossa ependymoma
M25 Ependymomas supratentorial- adult
Methylation profiling permissive to support testing where anatomical position of the ependymoma indicates posterior fossa ependymoma
Paediatric
M152 Neuroblastoma
Added TERT promoter rearrangements by FISH technology
Sarcoma
M67 Myxoid/Round Cell Liposarcoma
Added MDM2 amplification in patients with suspected myxoid pleomorphic liposarcoma
M79 Well Differentiated/Dedifferentiated Liposarcoma
Typological error corrected which supports MDM2 amplification testing by FISH
Solid Tumours
M4 Non-Small Cell Lung Cancer
Eligibility criteria updated
Updates to the National Genomic Test Directory for Rare and Inherited conditions
New Clinical Indications
Speciality
Test and Indication
Tests available
Respiratory
R426 Pulmonary alveolar microlithiasis
For target gene SLC34A2, single gene sequencing >=10 amplicons or exon level CNV detection by MLPA or equivalent
Organ transplantation
R428 Patient receiving solid organ transplantation (only in cases where passenger lymphocyte syndrome is suspected)
STR testing for relevant gene(s) or loci FISH testing for sex chromosome testing
Changes to directory
Speciality
Test and Indication
Change made
Skin
R110 Segmental overgrowth disorders
Moved to deep sequencing; Amended eligibility criteria; Opened sample pathways to facilitate tissue sample testing; Added requesting specialities: clinical genetics and plastic surgery.
R227 Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
Added new test targets: GTF2E2; RNF113A; CARS1
Neurology
R222 Neurofibromatosis Type 1
Added new gene target SPRED1; Added paediatrics as requesting speciality
R82 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Changed eligibility criteria to: “Clinical features that indicate a likely limb girdle muscular dystrophy or a genetic condition with overlapping phenotype such as distal myopathy or myofibrillar myopathy”
Renal
R257 Unexplained young onset end-stage renal disease
Increased age of eligible patient from 18 to 36
Mitochondrial
R42 Leber hereditary optic neuropathy
Removed R42.4. DNAJC30 added to R41 optic neuropathy panel
Ophthalmology
R41 Optic neuropathy
Included test type R41.3 three common LHON variants targeted mutation testing.
Haematology Core
R96 Iron metabolism disorders – NOT common HFE mutations
Amended eligibility criteria to “Iron overload (with raised transferrin saturation and/or raised serum ferritin) or features of other disorders of iron metabolism in which common HFE mutations have been excluded or are unlikely”
Iron overload – hereditary haemochromatosis testing
Amended eligibility criteria to: “Unexplained iron overload (with raised transferrin saturation and/or raised serum ferritin) suggestive of hereditary haemochromatosis”
Inherited cancer
R208 Inherited breast cancer and ovarian cancer
Added new gene targets: RAD51C and RAD51D; Amended eligibility criteria: Criteria 1f. Amend to using either a combined pathology adjusted Manchester score of ≥15, or single gene pathology adjusted score of ≥ 10 or BOADICEA/CanRisk score of ≥ 10. Criteria 4 Living unaffected relative change criteria 4b to combined pathology adjusted Manchester score of ≥20, or BOADICEA/CanRisk score of ≥20% for affected relative or BOADICEA/CanRisk score of ≥10% for unaffected relative. Criteria 4 add a phrase following criteria a-d stating that “where more than one family member may be eligible for unaffected testing, consideration of the residual probability of a causative pathogenic variant in the family taking into account prior normal unaffected tests should be undertaken”
Inherited MMR deficiency (Lynch syndrome)
Added prostate, gastric and pancreas cancers as types of lynch cancers
Paediatrics
Acutely unwell children with a likely monogenic disorder