An updated version of the 2021/22 National Genomic Test Directory released in England

On April 21, 2022, NHS England and NHS Improvement updated the 2021/22 National Genomic Test Directory (version 3), which lists genomic tests commissioned by NHS England via Genomic Laboratory Hubs. All three documents within the Directory were updated, specifying tests codes, clinical indications, the technology by which tests are available, and eligibility criteria for patients:

• National Genomic Test Directory for cancer;
• National Genomic Test Directory for rare and inherited diseases;
• Rare and inherited disease eligibility criteria.

Forty-two new codes (test-indication combinations) were introduced, and ten codes were removed in the cancer field. Some examples are presented below:

• M233.1 – Whole-genome sequencing (WGS) Germline and Tumour for high grade serous ovarian carcinoma;
• M215.5 - Multi-target NGS panel-small variant detection POLE for endometrial cancer;
• M234.1 - WGS Germline and Tumour for triple-negative breast cancer;
• M7.5 - MYB & 6cen for melanoma in adults;
• M7.10 - Copy number variant detection to genomewide resolution for melanoma in adults;
• M241.2 - RREB1 (6p25) for conjunctival melanoma;
• M9.6 - TERT promoter hotspot for thyroid papillary carcinoma in adults;
• M240.1 - Multi-target NGS panel - small variant (BRAF, HRAS, NRAS, KRAS) for non-invasive follicular thyroid neoplasm with papillary like Nuclei;
• M220.6 - Multi-target NGS panel -small variant (IDH1) for cholangiocarcinoma;
• M236.2 - DPYD hotspot for oesophageal cancer;
• M232.1 - WGS Germline and Tumour for solid tumor exhausted all standards of care testing and treatment in adults;
• M53.7 - ZC3H7B-BCOR rearrangement FISH/RT-PCR for endometrial stromal sarcoma;
• M79.7 - DDIT3 copy number RT-PCR/ddPCR for well-differentiated/dedifferentiated liposarcoma;
• M235.1 – WGS Germline and Tumour for proven or suspected hematological tumors exhausted all standard of care testing and treatment.

Fourteen new codes (test-indication combinations) were introduced for rare and inherited diseases. Some examples are presented below:

• R417.1 - Multi Locus Imprinting Disorder (Multiplex ligation-dependent probe amplification (MLPA), PLAGL1, GRB10, MEST, H19, KCNQ1, GTL2, SNRPN, PEG3, GNAS);
• R417.2 - Multi Locus Imprinting Disorder (small panel, NLRP5, NLRP7, NLRP2, PAD16, KHDC3L);
• R420.2 - Pseudoxanthoma elasticum (exon-level copy number variations (CNV) detection by MLPA or equivalent, ABCC6, ENPP1);
• R423.1 - NIPD for retinoblastoma (RB1);
• R422.2 - BAP1 associated tumor predisposition syndrome (exon-level CNV detection by MLPA or equivalent);
• R299.3 - Possible mitochondrial disorder - mitochondrial DNA rearrangement testing (breakpoint mapping);
• R419.2 - Acute rhabdomyolysis (exon-level CNV detection by MLPA or equivalent, 65 gene target panel to be created on PanelApp);
• R421.1 - Pulmonary fibrosis, familial (medium panel, 25 gene target panel to be created on PanelApp);
• R424.1 - Subcutaneous panniculitis T-cell lymphoma (single-gene sequencing <=10 amplicons, HAVCR2).

Other amendments in the Directory for rare and inherited diseases include adding new target genes to existing codes, merging codes, changes in clinical indications names, and changing the test methods.

See the full details here.

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