Fostering Collaboration and Sharing Know-How in Precision Medicine

An interview with Umberto Malapelle

Why should we foster precision medicine? 
Precision medicine represents the most relevant “break in the wall” of the 20th century – paving the way to improving diagnosis and treatment in a plethora of different pathology settings. Only by fostering the spread of precision medicine and predictive molecular pathology – our key weapons in the fight against cancer and other diseases – can we make a “quantum leap” in our treatment strategies for patients. To scale up precision medicine approaches around the world, we need to address three important points.

1. Boost investment in specific training programs for physicians. 
2. Support and accelerate the adoption of next-generation technologies. 
3. Foster the molecular tumor board as the new standard of care, rather than an exception to the rule. 

How do you envision the molecular pathologist’s role in shaping the present and the future of precision medicine?

Predictive molecular pathology is the linchpin of an effective precision medicine approach in routine clinical diagnostics. In this “new world,” molecular pathology will play a central role in diagnosis and treatment decision making. True tailored treatment can only be achieved by starting from a specific morpho-molecular characterization of the patient’s lesions aimed at identifying actionable (“druggable”) alterations. In this fascinating landscape, I like to think of the molecular pathologist as the “midfielder” of the medical care team.

Can we expect increased collaboration on molecular pathology between Europe and emerging markets? 
That would greatly benefit the medical community and, eventually, our patients! I recently had the opportunity to share my personal experiences in predictive molecular pathology with a number of outstanding colleagues from different emerging markets. Nonetheless, the lack of adequate molecular diagnostic infrastructure combined with reduced access to specific training programs – for example regarding next-generation sequencing (NGS) in routine clinical settings – truly struck me, especially considering that NGS platforms are at the heart of predictive molecular pathology today. But I see great opportunities for increasing the mutual exchange of knowledge. We have a lot to learn from each other!

If NGS is at the heart of predictive pathology, why do we still struggle to see wider adoption in the field? 
That’s a question I have asked myself many times.

In my opinion, we need to take into account the fact that is difficult to leave one’s “comfort zone.” Conventional technologies, such as Sanger sequencing and real-time PCR, represent simple, robust tools for identifying different types of gene alterations. These are established technologies that have been mainstays in molecular laboratories worldwide for many years. Nonetheless, considering labs’ needs in the new era of molecular medicine, the main limitations of such technologies lies in their reduced multiplexing power and low limits of detection. A move from this “comfort zone” to NGS requires infrastructure upgrades (such as data storage), validation experiments, and specific training (with particular attention to data interpretation). These latter represent the main challenges that my team faced while implementing NGS in our clinical practice a few years ago. But it was worth the hard work – overcoming those challenges has led to gains we could not have imagined!

What are the “must-have” features in an NGS platform to simplify the sequencing process? 

This is a straightforward answer: speed, simplicity, and automation! Ideally, all of these features would be available in a fully enclosed, fully integrated platform. It pleases me very much to know that, nowadays, such a solution is finally available.

Does the existence of such a solution mean that predictive pathology implementation in emerging markets can now begin to move faster? 
Yes; in fact, this is exactly the right way to speed up adoption! By implementing a streamlined, easy-to-use NGS approach, we can flatten the learning curve regarding the “wet” part of the NGS workflow and the time saved can be used to train personnel in data management and interpretation, improving the quality of clinical reports. In my opinion, this is the best path forward!

How are you assisting with the adoption of NGS technology in other pathology labs? 
We have “opened the doors” of our lab by sharing our experience and know-how. We work with our colleagues in other laboratories to identify local problems and find the local solutions. For many years now, our department has offered a master’s degree focused on this topic and, thanks to that degree, we have had the opportunity to support a number of laboratories in implementing NGS.

We treasure this experience – and I think we can apply the same model to fostering collaboration, exchanging clinical knowledge, and sharing technical experiences. In addition, we are working with the International Society of Liquid Biopsy to organize an educational program focused on the minimum lab requirements for boosting NGS utilization for liquid biopsy testing. So, in other words I am fully open for collaborations!


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