Ambry Genetics

Danielle Portnik

Could you talk about your expertise and experience in the field and about your current roles and responsibilities?

I’m the regional business director for Ambry, one of the leading genetics companies in the United States. I lead international business development strategies for Ambry’s precision medicine offerings worldwide, responsible for identifying and developing opportunities to advance personalized medicine by partnering with international healthcare stakeholders.

Before moving to the life science industry, I built my career in the pharmaceutical industry. I focused on rare neonatal cardiopulmonary and autoimmune conditions where patient diagnosis was always a core challenge. Coming to Ambry was a way to bring things full circle, to leverage my academic background in genetics and biotechnology and my pharmaceutical background to bridge these perspectives for truly impactful partnerships.

C-level executives spend a lot of time thinking about commercializing new therapies and developing collaborations using technology and expertise worldwide to better support patients and caregivers. However, developing therapies becomes immaterial if patients cannot reach the necessary therapy due to lack of access or incorrect diagnosis. I came to Ambry to resolve this obstacle and realize how we might improve through cross-industry collaboration to help patients across the care continuum.

Could you provide your views on how data reporting and analytics are instrumental in breaking down data silos between departments and optimizing organizational productivity?

I firmly believe you cannot move what you cannot measure--organizations must create a level of transparency where all departments can measure and view their contribution to the organization's overall success. That level of clarity energizes and continuously aligns individuals and departments to the company’s vision. At the same time, it enables data-driven decisions that drive top-line and bottom-line growth and sustainability, employee retention, and strategic planning.

A critical consideration is how these solutions are brought into the company. One of my favourite quotes is ‘nothing about me without me’ – it comes from patient communities looking to be more involved in the decisions that affect their care – but, frankly, it rings true in anything we do in business. There is good data to show that the highest levels of engagement come through co-creation. So before even considering the ‘what’ solution you want to bring into the company, organizations should consider ‘why’ they are bringing it in and ‘how’ they plan to engage their teams and leaders. With that in mind, I believe that companies should measure three key things amongst the standard ones---one is the idea and insights generation – where does it come from?; the second is, what is the level of employee understanding of the company direction and vision, such that they can guide decisions and investments accurately and appropriately; and third, how do employees rank the level of openness, transparency, inclusion, and belonging in the organization?

Each of these are confidence indicator in the organization – speaking to the ‘safety and welcomeness’ of novel ideas across employees/stakeholders, provide a measure of engagement across departments, and thereafter the opportunity to augment where needed, and create a systemic link between top-down, bottom-up, or bilateral data analysis, interpretation, ideation, and collaboration.

How do rapid technological advancements impact the data generation process and enable organizations to better handle large amounts of data?

Perhaps one of the greatest opportunities and challenges in this space is data and the technology that now supports it. We are more data-rich and insight poor than we’ve ever been. When you consider the technologies in the market today – consider genetic sequencing technologies, for example –we are now sequencing whole exomes and whole genomes in weeks, for what used to take years, and can confirm the presence of a disease-causing mutation with impeccable accuracy. This is incredible for patients, and we are seeing increased usage of genetic testing as a Companion Diagnostic in therapeutic development and delivery. We’re seeing broad-scale national and international programs and consortia collate it. Still, it also means that we are now producing such massive amounts of data that we’re relying on cloud storage to be able to hold it.

Of course – the more data you have, the more insights you can derive from it – so we can create more links within and across the data to identify trends, outliers, and impacts and leverage AI/ML technologies to streamline market insights, strategic planning, and tactical execution like never before. This means better insights for labs, advancing the science for patients and providers, and igniting therapeutic development for pharmaceutical manufacturers like never before. Let's take the example of a rare disease. We are seeing strategies come together across government and advocacy to support these groups, we are seeing global consortia to “make rare a little less rare,” and we are seeing a steady increase in the number of gene therapies and targeted therapies that are coming to the market with a conservatively estimated compound annual growth rate (CAGR) of more than 8.5 percent, GMI expects the market value to reach $435 billion by 2032.

Where do you envision the industry in the coming years regarding the disruptions and transformations that will influence the industry?

For a long time, technology has driven data, but now, data is driving technology, and it will continue to do so. It is a reversal in terms of what we have been doing, and it will put a lot more power into the hands of patients, providers, and advocacy groups. Ultimately, it will drive a dialogue where we begin to see the removal of silos across the industry. We are all in this together and must be at the table if we want to make a difference.

Is there any piece of advice that you’d like to share with leaders within the industry today?

Be infinitely curious, ask questions, and do not accept an opinion or a view just because it resides before you. If something does not make sense, especially at first glance, think about it more. We should avoid getting comfortable and overlooking things that initially shock us. Asking questions will bring a perspective we do not have and reshape our thinking as we move forward.