An upcoming update to the national genomic test directory aims to increase the clinical utility of inherited cancer testing for conditions that largely present in children.
The changes are part of the upcoming annual update to the national genomic test directory (NGTD). To stay up to date on these and future changes, register here (opens in a new tab).
In total three clinical indications will be removed (R220, R358, R359) and two new ones added (R456, R457). There are also eligibility changes to R89. Further inherited cancer changes are also included in our general update.
Restructuring clinical indications to increase clinical utility
The update will remove the following clinical indications, which have been found to rarely produce actionable results:
- R220 Wilms tumour with features suggestive of predisposition (small gene panel, methylation testing)
- R358 Familial rhabdoid tumours (small gene panel)
These clinical indications will be replaced with:
- R456 Embryonal tumour of possible germline origin (medium gene panel, methylation testing)
- R457 Sarcoma of possible germline origin (small gene panel)
What test to order
Reminder: These clinical indications should be used to assess inherited cancer predisposition from peripheral blood, they are not suitable for somatic testing of tumours.
Alongside others, patients previously eligible for R220 or R358 should now be eligible for testing under R456.
Always check current eligibility criteria in the NGTD before ordering.
Eligibility for R456
The eligibility criteria for embryonal tumour of possible germline origin (R456) include certain:
- Wilms tumours (replacing R220)
- Neuroblastomas
- Medulloblastomas
- Atypical teratoid/rhabdoid tumour OR Small cell carcinoma of the ovary, hypercalcaemic type (SCCOHT) (replacing R358)
- Testing of samples from deceased individuals with relevant family history
Eligibility for R457
The eligibility criteria for sarcomas of possible germline origin (R457) include certain:
- Sarcomas
- Chordomas
In the short term, tests that have already been ordered using R220 or R358 will be reallocated to R456.
Accessing whole genome sequencing for inherited cancers
Certain cases of childhood solid cancers may now be eligible for testing under R89 Ultra-rare and atypical monogenic disorders. Requests for testing through this route must first receive delegate approval to proceed from the UKCGG/CanGene-CanVar National Multidisciplinary team.
This replaces R359 Childhood solid tumours (medium gene panel/ whole exome sequencing, which will be withdrawn in the NGTD update.
There are a number of other changes to the eligibility criteria for inherited cancer tests, which are summarised in our general post on the NGTD updates.
If you have any questions, please contact us.