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Diagnostics Genetics and epigenetics, Oncology, Omics

Revisiting the Real Impact

sponsored by Thermo Fisher Scientific

After its launch in Baltimore at the Association for Molecular Pathology (AMP)’s 2019 annual meeting, the Ion TorrentTM GenexusTM System from Thermo Fisher Scientific is catalyzing conversations in the precision medicine community. The system features a unique automated specimen-to-report workflow that delivers results economically in a single day and, in my opinion, holds unprecedented potential to advance precision medicine. Its unmatched turnaround time – as little as 14 hours to final results – is extremely appealing for clinician-scientists who are confronted with the need to make decisions fast.

To learn more about the new system’s advantages from an oncologist’s point of view, Luca Quagliata, Global Head of Medical Affairs at Thermo Fisher Scientific, sat down with Elena Garralda, Principal Investigator at the Vall d’Hebron Institute of Oncology (VHIO) Early Clinical Drug Development Group and Director of the Research Unit for Molecular Therapy of Cancer (UITM) “la Caixa.” Garralda shares her thoughts on the benefits of obtaining a complete molecular profile of a tumor sample within a single day – both for clinical research and, in the future, for routine management of cancer patients.

What do you think of the single-day molecular testing turnaround time?

Should this claim be confirmed in a fully controlled study, it might have huge implications for clinical studies. In my experience, when sending off cases for testing, you are often confronted with long waiting times to get a full molecular report.

Waiting for results places a heavy burden on many patients, because once they have heard the word ‘cancer,’ they would like to start treatment as quickly as possible.

Unfortunately, this means that, for late-stage cancer patients, you may have to make a therapeutic decision and move forward with only partial molecular information. And, sadly, it’s possible that – once the full results arrive – you may discover that the first-line treatment you have already initiated is not the most appropriate therapy for that particular patient. But even beyond the implications that has on the potential outcome of treatment, I think it’s important tohighlight that there is also an  emotional component to be considered. Waiting for results places a heavy burden on many patients, because once they have heard the word “cancer,” they would like to start treatment as quickly as possible. Delays cause understandable anxiety and impatience.

What advantages would such a system bring to your clinical research practice?

From a clinical researcher’s standpoint, one of the most challenging aspects of the work lies in handling patients’ emotions when referring them to clinical trials. Another challenge is to pick the most appropriate trial for each patient. Having a full molecular profile in a timely manner would help with both. The oncologist’s difficulties are alleviated by the ability to make rapid, appropriate treatment decisions, whereas the patient’s emotional stress is reduced because the long and often excruciating wait for treatment can be significantly abbreviated.

As an oncologist, and thus the end user of the data generated by such systems, what result-reporting features would you expect?

First of all, I expect such a system to be extremely solid and reproducible in terms of data analysis reliability – that is an absolute must. In addition, I would like it to offer a great deal of flexibility in terms of content and granularity of the information. Above all, I expect it to allow the generation of a compelling, comprehensive, and plainly understandable report. Those are the features that make it easy-to-use.

For example, an ideal report would clearly display the pathogenic alterations necessary to make a timely decision – but, at the same time, it would support the visualization of genomic variants that are currently of unknown significance. Why? Because, although these variants don’t currently inform treatment selection, they are often relevant for enrollment in clinical studies.

Should your institution choose to have a next-generation sequencing (NGS) system, what advantages would it have for your interactions with your pathologist colleagues?

In our multidisciplinary meetings – also known as molecular tumor boards – we sit alongside pathologists, biologists, and bioinformaticians to make decisions about patient care. I foresee that NGS systems, especially coupled with rapid turnaround times, will allow us more decision-making flexibility when discussing patients’ results. Instead of selecting treatments based on partial information, we will have all of the necessary data available at once, which will make us more efficient and effective overall.

An important aspect of today’s NGS-based molecular profiling is the percentage of failed tests – for instance, due to low sample quality. The Ion TorrentTM GenexusTM System holds the promise of reducing that percentage.

How could this affect your work?

From my perspective as an oncologist, it is extremely frustrating when we are told that not enough tumor content or DNA is available to generate a molecular report. This is especially true because we should avoid having patients re-biopsied to do molecular profiling; like any medical procedure, biopsies are not free from complications.

The less [biopsy] material you need up front, the better for everybody.

Furthermore, in my role as a clinical researcher, I am acutely aware of the value of biological samples in the context of clinical trials and beyond. The less material you need up front, the better for everybody. If the sample is entirely used up in pre-screening, you have nothing left for downstream testing – and then you have to decide between putting the patient through another invasive procedure (if, indeed, a repeat biopsy is possible) or working with insufficient material to gather the necessary information. In clinical trials, it is especially important to use material wisely, because there is often a need to test additional biomarkers at a later stage of the study – so conservation is key.

How important is it for you that a platform is CE-IVD approved?

The quality assurance and robustness of the generated results, along with the trust you place in your colleagues in the laboratory, are vital to ensuring that all treatment decisions are made with full information and in the best interests of the patient.

The Ion TorrentTM GenexusTM System is for research use only.

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