As promised last week, we are publishing the Part 2 interview with Professor George P. Patrinos about the Genomic Medicine Alliance. Look what more he shared with us.

Enjoy the read and stay tuned for our next interviews that are coming soon.

George Patrinos

Professor George P. Patrinos (University of Patras Department of Pharmacy, Patras, Greece) Member of the Scientific Advisory Committee and Co-Chair of the Genome Informatics Working Group at GMA

4. What is your role in the organisation and how does your personal background support it?

I currently serve the GMA as Member of the Scientific Advisory Committee and recently appointed as Co-Chair of the Genome Informatics Working Group, supervising related projects. This role is supported by our academic activities within my research group at the University of Patras, Department of Pharmacy in Patras, Greece and with close collaboration with other colleagues from the University of Patras and other academic institutions in Greece and abroad.


5. The Genomic Medicine Alliance activities are divided into distinct Working Groups. Could you list them for us and briefly describe what they are about and their main aims?

GMA research activities span 7 different Working Groups:

  1. Genome Informatics,
  2. Pharmacogenomics,
  3. Cancer Genomics,
  4. Rare Diseases and Drug Outcomes,
  5. Public Health Genomics,
  6. Genethics, and
  7. Economic Evaluation in Genomic Medicine.

Each of the Working Groups’ activities is coordinated by two members of the Scientific Advisory Committee. The Genome Informatics Working Group aims to catalyze the development of new National/Ethnic Genetic databases to document the incidence of genetic disorders in various countries as a molecular diagnostics aid. These databases are developed, based on the data warehouse principle and pre-existing guidelines. Also, the Working Group has developed, in concert with the NIH-led Global Genomic Medicine Collaborative the DruGeVar database, an online resource triangulating between drugs, genes and pharmacogenomics biomarkers in an effort to provide a centralized and user-friendly resource for clinicians to retrieve guidelines and clinically actionable pharmacogenomics information. The Pharmacogenomics Working Group, in close collaboration with the Golden Helix Foundation, is currently taking part in the Euro-PGx project, aiming to (a) determine the population frequencies of pharmacogenomics biomarkers to optimise medication modalities and to minimize adverse reactions by genotyping a large number of pharmacogenomically-relevant genomic variants in 231 absorption, distribution, metabolism, and excretion–toxicity (ADMET)-related genes, which would assist in prioritizing medication selection in participating developing countries and, (b) provide proof-of-principle of the use of whole-genome sequencing for pharmacogenomic testing. The Cancer Genomics Working group aims to assess current technologies, laboratory standards and regulations to develop a framework to guide clinical laboratories performing cancer genomic testing. In particular, this Working Group aims to identify existing standards and regulations for cancer genomic testing, e.g. next-generation sequencing, to survey existing and emerging genomic technologies and to develop guidelines for clinical laboratories performing genomic testing and bioinformatic analysis for oncology. The Rare Disease and Drug Outcomes Working Group aims to work in close collaboration with other scientific bodies (IRDiRC, ICORD) and institutions (NCATS, NIH, ISS) active in the field of Rare Diseases and to also steer the development of research on Rare Diseases 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. The Public Health Genomics Working Group is undertaking stakeholder analyses and nationwide studies to better understand the level of the general public’s genetics awareness including their attitudes to genomic testing and the level of healthcare professionals’ (i.e. physicians, pharmacists, nutritionists, etc) genetics education. So far, surveys have highlighted the relative lack of healthcare professionals’ genetics education and general public’s genetics awareness as perhaps one of the biggest obstacles to the widespread implementation of Genomic Medicine and have also shown the general utility of genomic testing for individuals including the public’s remarkable level of interest in participating in genomic research. Also GMA members co-organize educational events revolving around pharmacogenomics and Genomic Medicine in various European countries; these are endorsed by the GMA and partly funded by the Golden Helix Foundation and other entities. The Genethics Working Group explores the landscape of direct-to-consumer (DTC), beyond-the-clinic (BTC) and over-the-counter (OTC) genetic tests in various European countries, as it is of utmost importance to harmonize policies that safeguard the general public and ensure that they become better informed with respect to the various attendant risks from this type of testing. The GMA has recently produced an opinion article to highlight the various types of OTC genetic tests currently available. Lastly, the Economic Evaluation in Genomic Medicine Working Group aims to demonstrate the cost-effectiveness of Genomic Medicine by conducting cost-effectiveness and cost-utility analyses of several genotype-guided therapies, focusing on developing countries. Preliminary findings indeed suggest that some genotype-guided therapies are indeed cost-effective in some countries. Also, the GMA has recently endorsed the production of the textbook “Economic Evaluation in Genomic Medicine” that is co-authored by two GMA Scientific Advisory Committee members and will be published in May 2015.


6. What does ethical data sharing mean to you?

In my view, ethical data sharing involves contribution of omics data, obtained with informed consent from patients and/or healthy volunteers, for research purposes while ensuring that sensitive personal data are safeguarded to avoid stigmatization. Researchers can be incentivised to contribute omics data using various approaches, one of which is microattribution.


7. What are your thoughts on the most important thing that should be done in the field of genomic data sharing?

In my opinion, there are two main issues with genomic data sharing:

  • personal data protection that relate to genomic data and
  • incentivation of researchers to share their data with the scientific community.

Developing an incentivization process for placing genomics data into the public domain, such as microattribution, is nowadays feasible in technical terms and the first efforts to build such a process are currently underway. However, the widespread adoption of these efforts will rely on the means to uniquely identify genomic data contributors as well as to reward the enthusiasm and motivation of specific researchers, laboratories, funders, and academic institutions to support these genomic data sharing initiatives to the benefit of the wider research community and, most importantly, the patients and their families. At present, persuading busy scientists to contribute their valuable time to the public good is a daunting task and fundamental changes to the culture of data sharing are necessary for scientific progress to be made.


Did you miss the first part of the interview? Read the first part of the interview with Genomic Medicine Alliance

Are you part of a project that facilitates data sharing for genomics research? Would you like to be featured on our blog? We would love to hear from you. Drop us an email at or use our contact page to get in touch.