Personalized Medicine: Opportunities are abundant and extend beyond Whole Genome Sequencing

If the ambition is to develop personalized medicine as an integrated part of our future healthcare offerings, we should carefully consider the advantages and disadvantages of public-private partnership structures.

Date: February 9, 2023

Author: Jonas Hink

Published: Dagens Medicin

Personalized, individualized, tailored or precision medicine is a broad concept but is generally understood as any intervention aimed at preventing or treating disease in individuals with specific genetic, molecular, physiological, and/or clinical characteristics.

It represents a shift away from the “one-size-fits-many” approach.

Overall, personalized medicine is about optimizing preventive and treatment measures on an individual level, preventing unnecessary resource use, and minimizing the extent of undesirable effects.

An essential element is the use of diagnostic analyses to determine the best prevention or treatment for each individual, with a particular focus on exploring opportunities within genetic profiling.

Not just whole genome sequencing

In Denmark, many people associate personalized medicine with whole-genome sequencing, partly because the updated national strategy for personalized medicine for 2021-2022 included a steering group for the implementation of personalized medicine with a special focus on the use of whole-genome sequencing under the National Genome Center.

However, personalized medicine does not only encompass whole-genome sequencing. Individualized treatment pathways are being implemented in the country’s hospitals using fast and decentralized analyses, particularly the interpretation of selected gene panels and tumor markers based on the relevant disease history.

In isolation, whole-genome sequencing does not necessarily create added value in terms of health economics. However, it represents a significant research resource that, in combination with other knowledge and information, can accelerate development and unlock the vast potential of personalized medicine.

The combination of different types of data creates unique conditions for individualization and optimization of prevention and treatment.

Economics should be included in a new strategy

The updated national strategy for 2021-2022 also included an analysis of the possibility of including more data sources in the infrastructure for personalized medicine, as the ambition is to expand efforts to include technologies other than whole-genome sequencing.

However, it is not clear what the analysis has concluded.

According to the new government agreement, the current government plans to present a new ambitious national strategy for personalized medicine during this term.

In this context, it would be appropriate to consider an approach that incorporates complementary inputs to whole-genome sequencing and addresses health economics and commercial aspects without favoring specific technologies and their implementation.

Many types of data sources

There are many types of health data and data sources that can be used for personalized prevention and treatment.

For example, the study of the human microbiome can lead to new ways of diagnosing and targeting medical treatments for non-communicable diseases, including oncological, autoimmune, and neurodegenerative disorders, based on the presence, composition, and changes in various microorganisms, their metabolites, and interactions.

Advanced imaging data also offer many opportunities in relation to artificial intelligence and machine learning, such as using retinal images in ophthalmology and neurology. Radiomics and digital pathology also hold tremendous potential for cancer screening and diagnosis or other conditions requiring specific treatments.

Other examples include real-time measurements collected through wearable sensor technology to predict and detect disease patterns and developments rapidly for timely, accurate, and individual intervention.

Need for human competences

Common to all these types of health data is that they are extensive, complex, and require a lot of computer capacity for collection, analysis, and storage.

Furthermore, there is a need for human skills in data management, organization, and integration, as well as insight into the respective disease areas, in order to make use of the continually growing amount of information for personalized medicine.

This requires a willingness to allocate sufficient resources.

The implementation and execution of the first 60,000 whole-genome sequencings via the National Genome Center have been funded by the Novo Nordisk Foundation, but the grant expires in 2024, and the ongoing operation is expected to be financed by the regions thereafter.

Therefore, it is important to establish a sufficient data foundation for the evaluation of diagnostic yield and clinical effectiveness.

What can be done here and now?

Even though the health economic benefit of various forms of personalized medicine is insufficiently understood, it makes sense to focus on what can be done in the short term within the existing organization and structures of the healthcare system and what requires more fundamental changes and investments in the long term.

If the ambition is to develop personalized medicine as an integral part of our future healthcare offerings, we should carefully consider the advantages and disadvantages of public-private partnership structures.

The development, validation, and scaling of new diagnostic solutions and associated treatments are time- and resource-intensive and involve significant uncertainty and risk, which can be challenging to handle solely within public frameworks.

The question, therefore, is not only whether the implementation plan for whole-genome sequencing would have been initiated without the DKK 1 billion in funding from the Novo Nordisk Foundation but also whether the future integration of personalized medicine can be achieved without the use of commercial incentives and the involvement of industrial partners.