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Harness genomic data to provide patient-centered care

Simon kos headshotGenomic data provides the foundation for the delivery of personalized medicine, although cost-effective and secure management of this data is challenging. BC Platforms, a Microsoft partner and world leader in genomic data management and analysis solutions, created GeneVision for Precision Medicine, Built on Microsoft Cloud technology. GeneVision is an end-to-end genomic data management and analysis solution empowering physicians with clear, actionable insights, facilitating evidence-based treatment decisions.

We interviewed Simon Kos, Chief Medical Officer and Senior Director of Worldwide Health at Microsoft, to learn more about how digital transformation is enabling the delivery of personalized medicine at scale.

David Turcotte: What led to your transition from a clinical provider to a leader within the healthcare technology industry?
Simon Kos:
It wasn’t intentional. In critical care medicine, having the right information on hand to make patient decisions, and being able to team effectively with other clinicians is essential. I felt that the technology we were using didn’t help, and I saw that as a risk to good quality care. This insight led to an interest, and the hobby eventually became a career as I got more exposure to all the incredible solutions out there that really do improve healthcare.

Given your unique perspective within the healthcare technology industry, how do you see digital transformation progressing in healthcare?

Digitization efforts have been underway for more than thirty years. As an industry, healthcare is moving slower than others. It’s heavily regulated, complex, and there is a large legacy of niche systems. However, the shift is occurring, and it needs to happen. We have a fundamental sustainability issue, with healthcare expenditure climbing around the world, and our model of healthcare needs to change emphasis from treating sick people in hospitals to preventing chronic disease in the community setting. Each day I see new clinical models that can only be achieved by leveraging technology, enabling us to treat patients more effectively at lower cost.

How are you and other healthcare leaders managing the shift from fee-for-service to a value-based care model?

My role in the shift to value-based care is building capability within the Microsoft Partner Network—which is over 12,000 companies in health worldwide—and bringing visibility to those that support value-based care. For healthcare leaders more directly involved in either the provision or reimbursement side, the challenge is more commercial. Delivering the same kind of care won’t be as profitable, but adapting business processes comes with its own set of risks. I think the stories of organizations that have successfully transitioned to value-based care, the processes they use, and the technology they leverage, will be important for those who desire more clarity before progressing with their own journeys

What role does precision medicine play in delivering value-based care?

Right now, precision medicine seems to be narrowly confined to genetic profiling in oncology to determine which chemotherapy agents to use. That’s important since these drugs are expensive, and with cancer it’s imperative to start on a therapy that will work as soon as possible. However, I think the promise of precision medicine is so much broader than this. In understanding an individual’s risk profile through multi-omic analysis (i.e. genomics), we can finally get ahead of disease before it manifests, empower people with more targeted education, screen more diligently, and when patients do get unwell, intervene more effectively. Shifting some of the care burden to the patient, preventing disease, intervening early, and getting therapy right the first time, will drive the return on investment that makes value-based care economically viable.

As genomics continues to become more democratized, how will we continue to see it affect precision medicine?

It’s already scaling out beyond oncology. I expect to see genomics have increasing impact in areas like autoimmune disease, rare disease, and chronic disease. In doing so, I think precision medicine will cease to be something that primary care and specialists refer a patient on to a clinical geneticist or oncologist, instead they will integrate it into their model of care. I also see a role for the patients themselves to get more directly involved. As we continue to understand more about the human genome, the value of having your genome sequenced will increase. I see a day when knowing your genome is as common as knowing your blood type.

What role can technology play in closing the gap between genomics researchers and providers?

I think technology can federate genomics research. Research collaboration would tremendously increase the data researchers have to work with, which will accelerate breakthroughs. The more we understand about the genome, the more relevant it becomes to all providers. I also think machine learning has a role to play. Project Hanover aims to take the grunt work out of aggregating research literature. Finally, I think genomics needs to make its way into the electronic medical records that providers use, ideally with the automated clinical decision support that help them use it effectively.

What challenges are healthcare leaders facing when implementing a long-term, scalable genomics strategy?

On the technical side, compute and storage of genomic information are key considerations. The cloud is quickly becoming the only viable way to solve for this. Using the cloud requires a well-considered security and privacy approach. On the research side, there’s still so much we have to learn about the genome. As we learn more it will open new avenues of care. Finally, on the business side, we have resourcing and reimbursement. The talent pool of genomics today is insufficient for a world where precision medicine is mainstream. These specialized resources are costly, and even with the cost of sequencing coming down, staffing a genomics business is expensive. And then there’s the reality of reimbursement – right now only certain conditions qualify for NGS. So, I think any genomics business needs to start with what will be reimbursed but be ready to expand as the landscape evolves.

How do genomic solutions like BC Platforms’ GeneVision for Precision Medicine have the potential to transform a provider’s approach to patient care?

Providers are busy, and more demands are being placed on them to see more patients, see them faster, but also to personalize their care and deliver excellent outcomes. BC Platforms’ GeneVision allows insights to be surfaced from the system level raw data and delivered to the clinician to assist them in meeting these demands. The clinical reports that can be leveraged through GeneVision enable providers to make critical decisions about therapies and treatment within the context of their existing workflows.

In addition to report generation, GeneVision optimizes usage of stored genomic data so that when it is produced, it can be repeatedly re-utilized by merging it with clinical data as many times as a patient enters the health care system. GeneVision makes this possible through BC Platforms’ unique architecture, the dynamic storage capabilities of Microsoft Azure cloud technology, and Microsoft Genomics services. Together, these capabilities make genomic solutions like GeneVision a key factor in delivering patient-centered care at scale.

What will it take for genomics to become a part of routine patient care?

The initial barrier was cost. I think we are past that, with NGS dipping below $1000 and continuing to fall. Research into the genome is the current challenge. Genomics will eventually touch all aspects of medicine, but given the previous cost constraints we are the most advanced in oncology today. A key benefit of GeneVision is that it supports both whole genome sequencing and genotyping, which is currently the more cost-effective method to generate and store genomic data.  Although the cost of whole genome sequencing is coming down, this flexibility is essential to enabling rapid proliferation of genomics applications in healthcare. The future challenge will be educating the clinical provider workforce and introducing new models of care that leverage genomics. I think the reimbursement restrictions will melt away organically, as it becomes clearly more effective to take a precision approach to patient care.

What future applications of genomics in healthcare are you most excited about?

I’m really excited about the evolution of CRISPR and gene editing. Finding that you have a genetic variant that increases your risk of certain diseases can be helpful of course—it allows you to be aware, to screen, and take preventative steps. The ability to go a step further though and remediate that variant I think is incredibly powerful. At the same time, gene editing opens all sorts of other ethical issues, and I don’t yet think we have a mature approach to considering how we tackle that challenge.


BC Platforms GeneVision for Precision Medicine, Built on Microsoft Cloud technology, is available now on AppSource. Learn how GeneVision equips physicians with the tools they need to improve and accelerate patient outcomes by trying the demo today.