From The Editor | January 2, 2020

The State Of Genomic Testing In Blood Cancers


By Erin Harris, Editor-In-Chief, Cell & Gene
Follow Me On Twitter @ErinHarris_1


The Leukemia & Lymphoma Society’s Beat AML Master Trial found that patients treated with precision medicine had lower early death rates and improved overall survival compared to the standard of care. In this study, Foundation Medicine’s FoundationOne Heme test enabled the precision medicine approach that led to significantly longer overall survival rates in Beat AML-treated patients compared to those who elected standard therapy. I caught up with Jeffrey Venstrom, MD, SVP, Clinical Development at Foundation Medicine, to learn more about the current status of genomic testing in blood cancers. Here’s what he had to say. 

1. What is the current status of genomic testing in blood cancers? Explain in detail.

Genomic testing in blood cancer is well established and the clinical utility of broad genomic testing is rapidly evolving. For example, in acute myeloid leukemia (AML) multi-gene testing, including next-generation sequencing, is recommended by the National Comprehensive Cancer Network (NCCN) to generate a comprehensive prognostic assessment. In acute lymphocytic leukemia (ALL), testing for gene fusions via genomic testing is also becoming an important part of risk stratification.

In terms of therapeutic implications, it’s been incredibly exciting to see novel therapies finally approved for blood cancers, making genomic testing even more relevant and changing the disease trajectory for many patients. Genomic testing can provide physicians with clinically actionable information to help with diagnostic classification, prognostic assessment, and targeted therapeutic selection. Test results can provide information about clinically relevant alterations, potential targeted therapies, and available clinical trials. As more options for personalized cancer care and personalized clinical trials become available, comprehensive genomic profiling could have the greatest clinical benefit when used to guide therapy decisions early in the treatment process.

2. How will genomic testing positively impact blood cancers in the short term?

Patients already have access to genomic testing for blood cancers. FoundationOne®Heme, for instance, is a clinically available test validated to detect four classes of genomic alterations (including copy number alterations and rearrangements) in more than 400 genes, available since 2013. It has proven particularly valuable for patients with rare alterations that wouldn’t otherwise be detected by conventional hotspot tests. As more targeted medicines become available for blood cancers, the complexity of the treatment landscape means genomic testing can help clarify the right treatment for each patient, based on the alterations present in their tumor.

 3. What are the challenges currently facing genomic testing?

One challenge is education. Many oncologists, pathologists and patients still lack a basic understanding of genomics and the potential value that genomics can bring to clinical practice. As we identify more clinically relevant alterations, a better understanding of genomics and the clinical applications of different biomarker tests is critical.

Another challenge continues to be poor accrual to clinical trials. Genomic testing can be a portal to inform clinical trial enrollment and awareness for both clinicians and patients. There are several umbrella studies ongoing, including the BeatAML Master trial run by the Leukemia and Lymphoma Society, that are helping to advance research and precision medicine options for patients.

As the field of precision oncology rapidly advances, we continue working with partners across industry and academia to understand the biology of blood cancers, differentiate driver from passenger alterations, and create frameworks for actionable decision-making.

 4. What are possible solutions to these challenges?

Clinical trials are critical to advancing precision medicine in blood cancers. With treatment options currently in the pipeline, continued research is vital to move these treatment options forward toward availability for patients. We need to continue awareness of and increased participation in clinical trials so that we can continue to learn from these, and particularly those with uncommon cancers. Broad collaboration is critical for success here. A recent example where we’ve collaborated to deliver better results for AML patients specifically is in the context of a collaboration with the Leukemia and Lymphoma Society on the Beat AML Master trial. Emerging results from this collaboration, presented at the annual ASH meeting this year in Orlando, demonstrate feasibility of implementing broad NGS panels like the FoundationOne®Heme for rapid precision medicine trials enabled by comprehensive genomic profiling in older AML patients.

A commitment to basic research is also steadily advancing our understanding of blood cancers. By studying large patient populations, we can identify genomic patterns and insights that clarify diagnostic and prognostic questions.