Diagnosis
➤ Laboratories that require send out of tests for treatment predictive
biomarkers should process and send colorectal carcinoma specimens to
reference molecular laboratories in a timely manner. (EC-Ina/Ins-B/H-L)
Note: It is suggested that a benchmark of 90% of specimens should be sent out within 3
working days.
➤ Pathologists must evaluate candidate specimens for biomarker testing to
ensure specimen adequacy taking into account tissue quality, quantity,
and malignant tumor cell fraction. Specimen adequacy findings should be
documented in the patient report. (EC-Ina/Ins-B/H-L)
➤ Laboratories should use colorectal carcinoma molecular biomarker testing
methods that are able to detect mutations in specimens with at least 5%
mutant allele frequency, taking into account the analytical sensitivity of the
assay (limit of detection or LOD) and tumor enrichment (e.g. microdissection).
(EC-Ina/Ins-B/H-L)
Note: It is recommended that the operational minimal neoplastic carcinoma cell content
tested should be set at least 2 times the assay's LOD.
➤ Colorectal carcinoma molecular biomarker results should be made available
as promptly as feasible in order to inform therapeutic
decision-making, both prognostic and predictive. (EC-Ina/Ins-B/H-L)
Note: It is suggested that a benchmark of 90% of reports be available within 10 working
days from date of receipt in the molecular diagnostics laboratory.
➤ Colorectal carcinoma molecular biomarker testing reports should include
a results and interpretation section readily understandable by oncologists
and pathologists. Appropriate Human Genome Variation Society (HGVS)
and Human Genome Organisation (HUGO) nomenclature must be used in
conjunction with any historical genetic designations. (EC-Ina/Ins-B/H-L)
➤ Laboratories must incorporate colorectal carcinoma molecular biomarker
testing methods into their overall laboratory quality improvement program,
establishing appropriate quality improvement monitors as needed to assure
consistent performance in all steps of
the testing and reporting process. In particular, laboratories performing
colorectal carcinoma molecular biomarker testing must participate in formal
proficiency testing programs, if available, or an alternative proficiency
assurance activity. (S-C/A-B-H/I)
