Precision Medicine and the Future

In recent years, there has been an amplified focus on the use of artificial intelligence [AI] in various domains to resolve complex issues. Likewise, the adoption of artificial intelligence [AI] in healthcare is growing while radically changing the face of healthcare delivery. AI is being employed in a myriad of settings including hospitals, clinical laboratories, and research facilities. AI approaches employing machines to sense and comprehend data like humans has opened up previously unavailable or unrecognized opportunities for clinical practitioners and health service organizations. Some examples include utilizing AI approaches to analyze unstructured data such as photos, videos, physician notes to enable clinical decision making; use of intelligence interfaces to enhance patient engagement and compliance with treatment; and predictive modelling to manage patient flow and hospital capacity/resource allocation.

The continuous improvement in our understanding of the human genome and AI fused is leading to an increasing viable and effective Precision Medicine. Its intention is to provide a personalized solution to any individual health problem. Nevertheless, three main issues must be considered to make Precision Medicine with AI a reality:

  1. The understanding of the huge amount of genomic data, spread out in hundreds of genome data sources, with different formats and contents, whose semantic interoperability is a must;
  2. The development of information systems intended to guide the search of relevant genomic repositories related with a disease, the identification of significant information for its prevention, diagnosis and/or treatment and its management in an efficient software platform;
  3. The high variability in the quality of the publicly available information. by
    1. using a precise conceptual schema of the human genome, and
    2. introducing a method to search, identify, load and adequately interpret the required data, assuring its quality during the entire process

Precision Medicine platform is also a gateway to a new paradigm of prevention, diagnosis and treatment of diseases. The Precision Medicine approach is based on the individuality of each human being. It considers the genetic predisposition, lifestyle and the influence of the environment over the health to take the right decisions for each patient. In order to succeed when applying Precision Medicine in the clinical practice, it is necessary to integrate information coming from diverse areas of knowledge. But they have been traditionally studied independently. They are the so called “omic sciences”, such as Genomics, Proteomics, Epigenomics and Pharmacogenomics. All these sciences have experimented a great progress during the last two decades, especially Genomics.
Nevertheless, to take advantage of it, we must be able to provide mechanisms to enrich this knowledge with information coming from other research areas, such as fMRI, MRI, EEG, EHR, MEG and more. In order to achieve this aim, two main issues must be faced:

  • The available information is heterogeneous and dispersed:hundreds of different genomic data sources are publicly available, allowing biologists and clinicians to tackle complex diseases in a multidisciplinary way. However, they have been commonly developed ad-hoc, focused on addressing specific knowledge requirements and not designed to share information among them.
  • The complexity of biological processes, the noisy nature of experimental data and the diversity of sequencing technologies results in a great variability in the quality of the available information. That is why a huge amount of information is ready to be used, but only part of it is relevant to be applied with clinical purposes.

Personalized genomic medicine [PGM] is only one component of precision medicine, which means, in a broadest sense, it requires clinical care providers to combine genomic information with other types of information, such as fMRI, MRI, EHR, EEG, MEG, biochemical, physiological testing results, neuro-developmental history, environmental exposures, and psychosocial experiences. The most important goal is provide more precise diagnosis, genetic counseling, management, prevention, and therapy. This effort has already got started, but plenty of work still needs to be done before PGM becomes integrated into medicine itself.

Conflict of interest

The author declares no conflict of interest.

Leave a comment