Genomic testing and clinical decision making in CLL courses: exploring why and how to test

As therapeutic strategies for chronic lymphocytic leukemia (CLL) increasingly consider the patients’ genomic landscape, implementing and interpreting appropriate tests is key to improving patient outcomes. Therefore, healthcare professionals must be aware of not only the impact of specific genomic aberrations on treatment selection, but also the methods used to detect these key biomarkers. 

To support global healthcare professionals in applying genomic testing, VJAcademy has developed a series of free-access CME accredited e-learning activities: 

Genomic Testing and Clinical Decision Making in CLL graphic with DNA strand

Why conduct genomic testing?


In the first course, Toby Eyre, MBChB (Hons), MRCP (UK), FRCPath (UK), MD, of the Oxford University Hospitals NHS Foundation Trust, Oxford, UK, leads Module 1: Why is genomic testing important in CLL and what does it mean for patients? 

In this module, Dr Eyre emphasizes the importance of genomics in treatment selection by highlighting the predictive and prognostic value of recurrent genomic features in CLL. He particularly focuses on tumor protein p53 (TP53) and immunoglobulin heavy chain variable region (IGHV) mutation status: “Patients who do have a TP53 deletion or mutation are known to benefit substantially more from targeted inhibitors such as ibrutinib or venetoclax.” 

Dr Eyre adds: “IGHV mutation status is also important… patients who receive immunochemotherapy have a substantially worse outcome if they have IGHV-unmutated disease and they derive substantially more benefit from targeted inhibitors.” 



Toby Eyre

Toby Eyre, MBChB (Hons), MRCP (UK), FRCPath (UK), MD
Oxford University Hospitals NHS Foundation Trust



Prioty Islam

Prioty Islam, MD, MSc
Memorial Sloan Kettering Cancer Center


Prioty Islam, MD, MSc, of the Memorial Sloan Kettering Cancer Center, New York City, NY, further emphasizes the importance of implementing genomic testing in CLL by discussing the results of the informCLL registry in Module 2: Real-world utilization of genomics-driven treatment selection in CLL. This study found that despite guidelines recommending that all patients with CLL receive genomic testing before treatment “only 28% of all patients [received] fluorescence in-situ hybridization (FISH) testing, 11% and 12% receiving TP53 mutational testing and IGHV mutational testing, respectively.” 

Through discussing the real-world utilization of genomic testing, and how those results impact treatment selection, Dr Islam concludes: “The most important thing to glean from registries such as informCLL, is that further education and outreach is needed, especially as the treatment of CLL becomes increasingly genomics-driven,” and the introduction of novel agents continues to increase the complexity of care. 



How is testing performed?


In Module 1: How can genomic testing in CLL be implemented in practice? Methods and challenges of the second course, Matthew Davids, MD, MMSc, of the Dana-Farber Cancer Institute, Boston, MA, examines the appropriate methods for biomarker testing in CLL, as well as how to analyze, and interpret the results. 

Dr Davids discusses the role of a range of testing methods from flow cytometry in diagnosis to cytogenetic and sequencing methods for identifying genomic aberrations. For example, he describes how TP53 “can be measured in a couple of different ways; one is by cytogenetics, typically done by FISH, and the other is through sequencing evaluations to look for mutations in the TP53 gene.” 

He concludes: “As we put all these [techniques] together, we are able to understand the biology of an individual’s CLL… by doing that we can hopefully optimize the therapies that we provide to them.” 



Matthew Davids

Matthew Davids, MD, MMSc
Dana-Farber Cancer Institute


Applying genomic testing in therapy selection


Lydia Scarfo

Lydia Scarfò, MD
Università Vita-Salute San Raffaele


In both courses, Dr Eyre, Dr Davids and Dr Islam are joined by Lydia Scarfò, MD, of the Università Vita-Salute San Raffaele, Milan, Italy, to discuss case studies which illustrate how genomic testing is used to inform treatment decisions for patients with CLL. 

Through these examples, the expert panel highlights how clinical developments and areas requiring further investigation impact treatment selection, as well as how they approach genomic testing, and engage their patients in treatment selection. 

Want to learn more about the importance of genomic testing when selecting treatments for patients with CLL? Explore our Genomic testing and clinical decision making in CLL disease education feature. 



Written by Hannah Balfour

This course is supported by medical educational support from Janssen Pharmaceuticals (a Johnson & Johnson Company) and AstraZeneca. The supporter has no influence over the production of the content. 

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