In our ever-evolving health care landscape, where patients’ desire for improved health and researchers’ ability to innovate grow in tandem, the medical industry is becoming more and more equipped to deliver transformational diagnostics and treatments. But there remain gaps in the knowledge of the risk and timing for the development and onset of many diseases.
Boldly embracing the challenge of exploring disease risk, clinical onset and progression, Janssen’s World Without Disease Accelerator (WWDA) joined as an industry partner of FinnGen, a large-scale, academic/industry, genome research project in Finland. The effort is aimed at curating comprehensive genome variant data of half a million Finnish biobank participants with longitudinal, lifetime health data.
Could Janssen and its FinnGen collaborators further inform understanding of disease and its trajectory with a focus of transforming disease care? Joe Hedrick, Ph.D., Global Head, Type 1 Diabetes (T1D) Venture and Patrick Loerch, Ph.D., Global Head, Data Sciences and Prevention Biomarkers, share how the collaboration brings together the strength of data science to intercept disease, and why it has the potential to help reveal disease’s natural history – its progression over time in the absence of treatment – to potentially prevent illness.
First, some important background on Finland.
Joe Hedrick (JH): Looking back about 70 years ago when the infant mortality rate in Finland was dangerously high, Finnish investigators created the “Baby Box” to encourage expectant mothers to engage earlier with health care professionals to support the long-term health of their infants. This innovative program is credited for dramatically lowering infant mortality rate throughout the country, and has inspired Janssen in its work toward the earlier detection of childhood disease, the promotion of child health, and the facilitation of healthy parenting. From a T1D perspective, it’s also important to note that the prevalence of T1D in Finland is very high – about one in 100 are affected – and Finland is home to the longest-standing T1D natural history study in the world.
Patrick Loerch (PL): Finland was also one of the earliest countries to institute electronic health records (EHRs) and therefore has patient records dating back deep into health care’s history. The country has an extremely research-focused government with state-of-the-art biobanking laws that support scientists in following up with patients who have provided bio samples and participated in clinical trials, to uncover answers related to their initial genetic findings. This system offers a fair balance between protecting the rights of citizens and enabling innovative advances in science.
How might FinnGen help advance the WWDA’s mission?
PL: One of the main challenges we face in our work through the WWDA is identifying individuals who are at risk for developing a disease, but who are not yet outwardly manifesting symptoms. In Finland’s population, we see what geneticists call a “founder effect” – a phenomenon that often occurs when a small group of people from a larger population migrate to a new environment, carrying along with them a specific subset of genetic information which, over time, leads to reduced genetic variation in the new, growing population. In Finland’s population, therefore, we see a higher prevalence of certain disease-related mutations, compared with what we might see in the U.S. population. Scientifically, this means there is potential to detect certain diseases with much more accuracy in Finland, thus limiting the number of people required to participate in clinical studies.
The FinnGen collaboration also presents an opportunity to follow up with patients regarding initial genetic findings from their EHRs – a very unusual opportunity in science – that could potentially equip us with the tools necessary to create personalized, tailored intervention solutions for patients.
JH: And along with such valuable data, the Finnish government’s forward-looking approach to health care combined with the efforts it’s progressed with companies like Janssen, truly shows the opportunity to improve the health of their citizens. Collaborations with Finland innovators represent a cohesiveness that makes the potential to deliver on health care goals, and we believe the FinnGen project could be an important building block toward a world without disease.
Where is Janssen focusing its efforts within the FinnGen project?
JH: Our initial interest in the project was driven by a focus in T1D. Despite the disease being well-known among Finnish people, the rate of diabetic ketoacidosis (DKA) at diagnosis is surprisingly high, showing that there is still significantly high unmet need. This presents us with an opportunity to impact T1D in the near- and long-term through the development of prevention and early interception solutions. So, with that goal in mind, we asked ourselves, how can we help parents recognize when their child is at risk for DKA or progression to diabetes? From there we developed a smart diaper that detects possible precursors of disease in urine, prompting parents to engage a health care professional early.
PL: Our approach could also support other solutions we might bring forward in terms of prevention. While the smart diaper is primarily focused on T1D, the technology itself could enable monitoring for other common childhood diseases and provide helpful information related to the health trajectory of children. Even further, while the initial vision translated to a diaper prototype, the technology could be adapted into other devices for older children and even adults.
What are some goals you hope to achieve through the FinnGen study, and what’s next from here?
JH: One of the hopes for T1D is that this high incidence of disease in Finland, coupled with the ability to look back at EHRs, will enable scientists to look at possible genetic associations in people who were diagnosed with T1D as adults and help determine when exactly disease onset occurred. Uncovering this may help the industry to understand the natural history of adult-onset T1D, predict the health trajectory of children with high-risk genetics, and tailor monitoring, screening and treatment accordingly.
We also hope that the Healthy Baby Initiative (HBI), a strategic cross-sector project within the WWDA, will be able to leverage the insights from the FinnGen study, as well as the ongoing biobanking of samples collected from newborns in Finland at the time of delivery, to advance its mission of detecting the risk of childhood disease and intercepting it at an early age – not only for T1D but for many diseases.
PL: Yes, broader applicability is crucial. We believe that the FinnGen data sets may help us identify the clinical age of onset for a number of cancers, metabolic diseases and more. While the FinnGen study is taking place within this select population, it’s important for us to think about how the research applies more broadly to other parts of the world. While there is enriched data in certain Finnish phenotypes, these are phenotypes that are occurring in other countries around the world, and these results could be applied elsewhere where there are genetic similarities in populations. Finland has thought ahead to help us understand these first principles for the future of health care. Because of what they’re doing, there are multiple opportunities to understand how to intercept and prevent disease, and we are thrilled to be partnering with them.
