Ambry Genetics

Danielle Portnik

As an international regional business director at Ambry Genetics, Danielle Portniks’ main focus is on directing the strategy for precision medicine offering's international commercial expansion across a number of continents, including the Americas, Europe, Australia, and New Zealand. In order to promote fully individualized medicine and integrated diagnostics, this requires collaboration among healthcare stakeholders from all over the world and across the sector

In the light of your experience, what are the trends and challenges you’ve witnessed happening with in Biotech space over the years?

The data and technology that are currently supporting the progress of biotech represent one of the biggest potential and difficulties in this field. I believe that we are more data-rich and insight-poor than ever today. We've reached a point where our capacity to think through and regulate how we incorporate this into how we conduct business in this sector has in many ways been overtaken by the data that is available to us. The days of manually analyzing gigabytes and terabytes of data to find trends, outliers, and impacts are long gone.

The use of artificial intelligence (AI) and machine learning technology may help modern businesses expedite market insights, strategic planning, and tactical execution like never before. It's a nice challenge to have to accomplish things legally, morally, and compliantly. It's a challenge and an opportunity all at once, but if done right, biotech and pharmaceutical businesses today have more tools than ever to fundamentally alter how they approach and interact with the market.

What are some of the points of discussion that go on in your leadership panel to mitigate these challenges?

First things to do when you have access to so much information is to appropriately narrow your focus so that you have a very clear idea of where and how you want to play. It enables you to record all of the important factors that will affect how, where, and why you move your business ahead. As a result, you are able to consider the ramifications from a high-quality regulatory, commercial medical viewpoint pretty completely and thoughtfully. The second component isseriously thinking about how you may collaborate with other industry participants who have the knowledge you lack and vice versa.

As we continue to raise the level of complexity of the job, we are moving away from a one-size-fits-all approach towards one in which we are beginning to have a little bit more openness across the sector and are looking to other organizations to bring that level of knowledge. To ensure that you have a clear direction in how you go and go together with involvement across the company, it is imperative that you are not an island and that you are engaging with the appropriate stakeholders both internally and externally.

Making sure you either consult with strong experts in the regulatory and data compliance space is probably the most crucial, especially from the data side of things. This is especially important when we're talking about health information, as it is well protected for good reason and you don't want to end up on the wrong side of that line. 

Hence, ensuring that you take all necessary precautions when thinking about incorporating any kind of higher level data into your tactics will truly help that firm move forward.

How do you see the evolution of the Biotech space a few years from now with regard to some of its potential disruptions and transformations?

I believe the patient population seems to be being targeted or narrowed down more and more. As a result, we are witnessing a transition from trying to care for the majority to concentrating on the few and many people who have been left with no options. We are beginning to see many tactics from the advocacy and government sectors join together to help these groups. It's encouraging to see that a Canadian rare illness strategy is currently receiving a lot of attention in Canada. Global consortia are forming an effort to increase the proportion of patients taking part in this conversation.

We can research the condition more thoroughly and create more effective treatments. We are witnessing a continuous rise in gene therapies and targeted treatments. Hence, we anticipate seeing significant growth in this focused precision or personalized medicine field when we look at the next couple of years and the progress of various sequencing technologies, at least in the genetic domain. By 2032, the market value for rare diseases alone is anticipated to increase by 435 billion, with a compound annual growth rate of almost 8.5%.

Thus, there is a substantial investment being made in this field. The second aspect that will or must be considered seriously with this is the fact that there are still silos between the public and private sectors that affect how these discussions take place and how treatments are introduced to the market. To effectively move these forward and develop strategies that will enable us to do that, regulators, government payers, and the private sector all need to be able to sit down at the same table. This is especially true in markets like Canada where a sizable portion of this may require public funding.

What would be the single piece of advice that you could impart to your fellow peers or upcoming professional in your field?

One is to have a very clear understanding of your goals. From a commercial perspective, I believe that everything else will fall into place if you act morally, have a compelling argument, and want to have a significant impact on the people you hope to serve. And, secondary to that in order to understand what is needed, you have to go and discover that perspective. The perspective you need is typically the one you don't have. You will therefore be far more successful as a partner and trying to find a solution if you can understand how others are viewing an issue or scenario.