Personalized Medicine: What’s in it for Rare Diseases?

Abstract

Personalised Medicine has become a reality over the last years. The emergence of 'omics' and big data has started revolutionizing healthcare. New 'omics' technologies lead to a better molecular characterization of diseases and a new understanding of the complexity of diseases. The approach of PM is already successfully applied in different healthcare areas such as oncology, cardiology, nutrition and for rare diseases. However, health systems across the EU are often still promoting the 'one-size fits all' approach, even if it is known that patients do greatly vary in their molecular characteristics and response to drugs and other interventions. To make use of the full potentials of PM in the next years ahead several challenges need to be addressed such as the integration of big data, patient empowerment, translation of basic to clinical research, bringing the innovation to the market and shaping sustainable healthcare systems.

How to design a national genomic project—a systematic review of active projects

“…Since its onset, one of the main aims of genomics has been to enable personalized and precision medicine, which is the use of diagnostic tools and treatments tailored to the needs of the individual patient [3,8].…”

“…Pioneering projects, such as that of the UK, that has been previously reviewed [16,70]), have focused on determining both the normal and pathological genomic variation (clinical cohorts consisting of rare disease and cancer patient cohorts). Consequently, the fields of rare diseases [3][4][5][6][7] and cancer [71][72][73]) are currently closest to the implementation of personalized medicine.…”

“…Genomic medicine is the use of genetic information to inform medical care or predict the risk of disease and has been importantly influenced by novel technology such as whole-exome sequencing and whole-genome sequencing [1,2]. This has led to a significant improvement of health systems particularly in the diagnosis of rare genetic disorders and cancer [3][4][5][6][7] as well as in the development of precision medicine, which is the use of diagnostic tools and treatments targeted to the needs of the individual patient based on their genomics, epigenomics, proteomics, metabolomics, lipidomics, and other data such as environmental and lifestyle information [3,8].…”

Phenotype-genotype comorbidity analysis of patients with rare disorders provides insight into their pathological and molecular bases

“…To this end multiple personal medicine initiatives have been implemented that obtain and combine patient-related genomic data with environmental and lifestyle information for RDs [4]. Exome sequencing and other forms of genomic diagnostics have greatly accelerated the discovery of novel disease-associated genes and are starting to be used routinely [5,6].…”

Artificial Intelligence (AI) in Rare Diseases: Is the Future Brighter?

“…Despite all of these challenges, the development of new technologies, such as genomic analysis by means of next generation sequencing (NGS) and other "omics technologies" has boosted RDs' diagnosis and molecular understanding [8,9]. Information retrieved from these technologies represents a substantial increase in data that need to be selected, analyzed, and integrated [9]. This "big data" age constitutes a huge opportunity for the progress of therapy R&D in RDs, but also poses significant data management and ethical challenges.…”