Personalized medicine: Where technology and genomic data meet

A paradigm shift in healthcare

Personalized medicine has brought an extra layer of precision and personalization to the medical care for many years, but has yet to be deployed in a wider scale. Imagine a healthcare system where every clinical pathway, treatment, every prescription is tailored to the unique genetic makeup of an individual. This is the promise of personalized medicine, a paradigm shift that has the potential to transform the way we approach healthcare on a global scale. At the forefront of this innovation is Estonia, a nation pioneering a new era in healthcare delivery through the integration of genomic data and cutting-edge technology.

In Estonia, this vision is fast becoming a reality. In 2023, working with a host of partners, Nortal finished laying the foundations to provide large-scale, personalized medicine to Estonian residents. Thanks to new, pioneering healthcare policies and an empowering IT infrastructure, genetic information was connected harmoniously and safely to the healthcare ecosystem, enabling the seamless use of genomic powered algorithms in both prevention programs and everyday healthcare, such as the prescription of medication. Estonian Genome Centre is being entrusted with one of the highest coverage of genome data of population, implying that the people have the trust in nation to create health services that are truly precise and personalized.

Genetics in everyday care

The journey towards personalized medicine in Estonia is characterized by a forward-thinking approach to healthcare infrastructure. The creation of a nationwide IT framework, which is service-legislation agnostic, provides a robust platform for the delivery of a wide range of personalized medical services and an excellent testing ground for the development of new computing models.

This ecosystem seamlessly connects biobanks, healthcare providers, national health records, and genetic algorithm computation services to automate the use of genetic algorithms in everyday care.

An opt-in system by design, Estonians may easily manage consent to include their genetic data in the ecosystem, as well as order available genetic testing on the national patient portal. Alongside other personal health data, they may also manage genetic test results on the portal, and, if needed, book consultations with physicians. If citizens data is not yet included in the national biobank, they may do so by booking appointments at selected laboratories.

Estonia’s computational environment for personalized medicine provides a unique platform to automate the calculation of a variety of genetic risks. Since the environment is safely connected to biobanks and the national heath record, algorithms run in the environment can use a wide array of health and environmental data, such as radiological imaging, diagnoses, and even lifestyle facts. The monitoring and management platform for genetic risk models offers a transparent overview and management of the growing number algorithms included to the platform, providing insights for algorithm creators for product improvement. Also, on this platform the results of the calculations are exported to the healthcare documentation form and sent to National Health Record. From there on, the documents are usable by healthcare providers and decision support systems.

The personalized medicine management platform acts as the heart of the ecosystem. Hosted in the National Health Record, it helps keep track of consent, availability of data needed for calculations, and the status of each calculation, even automatically triggering an order for a calculation, if needed by a connected e-service.

Doctors may order and see results of genetic tests through their local clinical systems, since rapid data exchange between health care provider systems and the national health record provides opportunity to seamlessly integrate the use of genetic algorithms in to clinical processes, minimizing extra steps. Results are also available on the national healthcare record’s doctors’ dashboard (also known as Data Viewer), a separate national information service for clinical doctors, to give optimal access to a patient’s health data in a user-friendly visual form.

This sounds almost too good to be true, but Estonia has invested 20 years in interconnecting healthcare, using national technological building blocks such as the X-road for data exchange and ID numbers for unique patient identification. Since much of the groundwork was already present, it was easier to deploy new genetic-based functionalities in the ecosystem.

Battling breast cancer and depression

The first two services introduced in Estonia are a testament to the transformative potential of personalized medicine. A breast cancer screening program allows women to order genetic testing to assess their risk of developing breast cancer. If a risk is identified, individuals are included in the national screening program at a younger age, facilitating early detection and timely intervention.

Similarly, the decision support system for prescribing antidepressants is poised to revolutionize mental healthcare in Estonia. By leveraging pharmacogenomic testing, doctors can make more informed decisions when prescribing antidepressants, leading to improved treatment outcomes and potentially life-saving interventions.

Personalized medicine’s staggering potential

The smart implementation of personalized medicine on a large scale can have a significant impact on healthcare systems worldwide. In an environment of soaring healthcare costs and a growing deficit of healthcare specialists, personalized medicine can help bring costs under control with better targeted care and a push for preventative care.

Take, for example, the staggering healthcare costs associated with depression. The economic burden of major depressive disorder among U.S. adults only has been estimated to be in hundreds of billions, from treatment costs to indirect costs to the society, caused by the sufferer’s inability to work and function in everyday life. Costs may be reduced by improving the effectiveness of treatment, thus increasing the number of patients who achieve remission. Antidepressants are the first line of treatment, though more than half of patients do not respond to treatment on the first try, and even fewer achieve remission. This results in trial-and-error regimens that lead to treatment failures and side effects of medication. By using pharmacogenetic testing, it is estimated that, in Estonia, the gains are for each life-year gained amount to 30,000 to 50,000 euros saved on healthcare costs. Prescribing an effective medicine on the first try produces results on many levels.

In addition to better targeted care, personalized medicine offers opportunities for prevention and early detection. Breast cancer is the most common malignant tumor in Estonian women. According to current statistics, every 14th woman will get breast cancer during her lifetime. Each year, approximately 800 women are diagnosed with breast cancer, with 38 percent suffering from a spread to lymph nodes or neighboring organs at the time of detection, and 10 percent with a tumor with distant metastases — that is, a poor prognosis due to spread. If the cancer can be detected earlier, the prognosis would be much better. For women under 40 (around 20 percent of cases), it is believed that cancer traced to monogenic predisposition is more prevalent, thus it may be concluded that genome-based screening may prove useful for early detection.

The value proposition of personalized medicine lies in its ability to deliver the right help to people at the right time. Whether with the treatment of cancer, depression, heart disease, or any other number of conditions, personalized medicine offers a targeted approach to healthcare that can significantly improve patient outcomes and reduce healthcare costs.

Policy is a precondition

Despite its obvious benefits, the journey towards personalized medicine is not without its challenges. The healthcare domain is exceptionally sensitive and sophisticated, and the implementation of personalized medical services means careful navigation, as well as legislative- and policy decisions.

Nortal believes that carefully developed service models and clear regulation, accompanied by technology as an enabler, permit big things to happen. In the case of implementing personalized medicine in Estonia, Nortal participated in the entire process, from the business analysis of service models to the technical development of IT infrastructure. This participation in the full service creation lifecycle ensures that agreements and technology go hand in hand, enabling one another, instead of holding the other back.

Personalized medicine represents a paradigm shift in healthcare delivery, offering tailored solutions that promise to revolutionize patient care. Estonia’s pioneering efforts serve as a blueprint for nations around the world, demonstrating the transformative potential of integrating genomics and technology into healthcare delivery. As we look toward the future, personalized medicine offers a glimpse of a world where healthcare can be truly precise and personalized.