Complications and considerations for adoption of new technologies in a specialised integrated haematological malignancy diagnostic service

Abstract

Background: The easy access to fresh cells and high-quality DNA derived from bone marrow aspirate and peripheral blood mean that the molecular pathology of haematological malignancies is being rapidly and progressively determined. Structural genomic variations have been well described by cytogenetics and FISH testing overall several decades of research. However, a range of small molecular variants including, single nucleotide variants (SNVs), and small insertions or deletions (INDELS), have more recently been described through research studies and have importance for con?rming certain speci?c diagnoses, determining prognosis and enabling appropriate use of targeted therapy. Purpose: The talk emphasises that these tests, though now readily available, are still relatively expensive and can be provided by a number of test systems with important di?erences in performance characteristics. Clinicians need to be aware and keep updated on test performance, sensitivity and speci?city, limits of detection and impact of DNA input quality on results.Methods: The talk will share some of the recent experience of the NW-Genomic Laboratory Hub team introducing NGS gene panel tests linked to the Greater Manchester Haematological Cancer Diagnostic Partnership.Conclusion: Guidelines for use at initial diagnosis are in place for a number of diseases, but there is less mature advice on follow up testing and possible use for assessing and measuring residual disease. Close laboratory links with local clinicians, attention to detail in providing necessary clinical information with test requests, and on-going audit and research are necessary to ensure optimal usage of this valuable test resource. The expansion of testing to include whole genome sequencing for certain indications this year is also discussed.