The Genomics and Pharmacogenomics Working Group aims to undertake and coordinate research projects that will facilitate the integration of genomics applications and pharmacogenomics into healthcare. This Working Group activities span into three different fields:

1. Pharmacogenomics

2. Rare Diseases,

3. Cancer Genomics.


1. Pharmacogenomics

This Working Group has undertaken a project to provide proof-of-principle of the use of whole-genome sequencing for pharmacogenomic testing, by resequencing with high coverage, of almost 500 human genomes, mostly from Caucasian populations. This project indicated that not only a vast number of novel potentially functional variants in a total of 231 pharmacogenes was identified but also demonstrated the value of whole-genome sequencing for pharmacogenomic testing by capturing over 18,000 variants per individual in these pharmacogenes. These efforts are expected to yield important results with very positive implications for public health as it can improve the quality of life, as well as help towards reducing healthcare costs.

Also, this Working Group has completed the first Pan-European study to determine the prevalence of PGx biomarkers in several European populations. Results of this study has shown that there is a significant inter-population variability, as far as pharmacogenomic biomarker allele frequency is concerned, which has a direct impact on the rationalization of drug use at a population level. This project is currently being replicated in Southeast Asia, in close cooperation with the SEAPharm Consortium and the Global Genomic Medicine Collaborative.



Mizzi C, et al. (2014). Personalized pharmacogenomics profiling using whole genome sequencing. Pharmacogenomics, 15(9): 1223-1234. 

Mizzi C, et al. (2016). A European spectrum of pharmacogenomic biomarkers: Implications for clinical pharmacogenomicsPLoS One. 11(9): e0162866. 


2. Rare Diseases

Rare diseases (RD) has been estimated to be more than 7.000; whilst individual conditions can be very infrequent. RD overall affect millions of citizens at global level and are considered a significant issue. RD are not a neglected topic anymore. In the last decade, several targeted actions at international, European and national level, have tackled both public health and research aspects.

However, a lot remain to be performed mainly at diagnostic and treatment level. In particular, about 30% of patients are still undiagnosed; moreover, only symptomatic therapy is still available for the majority of persons with RD. 

Work in this Working Group is conducted in close collaboration with other scientific bodies (IRDiRC, ICORD) and institutions (RD at NCATS, UDP at NIH, ISS) active in the field of Rare Diseases and focuses on:

a. Rare undiagnosed diseases

b. Rare phenotypes within rare conditions

c. Rare pharmacogenomic-related adverse drug reactions

Members of this Working Group aim to steer the development of research on RD in developing countries, by transferring and sharing scientific expertise, models and best practices as well as by seeking contacts with Universities, scientific associations, institutions and patient organizations.


Selected links:


3. Cancer Genomics

Over the past decade due to the deep-sequencing technologies, we have studied the characterization of nucleic acid alterations in a wide range of cancers generating a large body of information on how cancer develops and evolves. Likewise, genomic testing has moved from a limited research activity to specialized institutes, to a clinical test available in dozens of academic and commercial laboratories.

Members of this Working Group have undertaken a study to identify cancer predisposition (germline) variants in apparently healthy individuals with no cancer history in the family using a next-generation sequencing strategy.

Such an approach aimed to intentify genomic, particularly novel variants that might predispose to various types of cancer so that such information could help in the assessment of personalized cancer-susceptibility risk from genome sequence data.



Karageorgos Ι, et al. (2015). Identification of cancer predisposition variants using a next generation sequencing-based family genomics approach. Hum Genomics. 9: 12.


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