Personalization, Pharmacogenetics and Pharmacogenomics

Providing the right drug to the right patient at the right dose

Our Conference on Personalization, Pharmacogenetics and Pharmacogenomics is coming up and you are kindly invited to book the date in your calendar:

Friday, 25 September 2020

Sofia, Bulgaria (online event)

Recent studies demonstrate that individuals metabolize medications on a wide scale and have considerable variations in drug response and side effects based on their DNA.

Despite general sentiments, medical drugs do not have the same effect on separate people. It has been proven that medications are ineffective for a large percentage of patients with different conditions and diseases (cardiology, pulmonology, neurology, psychiatry, oncology, etc.). Why one and the same drug is really effective for one patient and not only unsuccessful, but also dangerous for another one? The answer is in the genes.

Pharmacogenetics and pharmacogenomics reflect the importance of individual‘s genetic information for optimization of treatment plan and disease management.

Pharmacogenetics is the field of study dealing with the variability of responses to medications due to variation in single genes. Pharmacogenetics takes into account a person’s genetic information regarding specific drug receptors and how drugs are transported and metabolized by the body. The goal of pharmacogenetics is to create an individualized drug therapy that allows for the best choice and dose of drugs.1

Pharmacogenomics is similar to pharmacogenetics, except that it typically involves the search for variations in multiple genes that are associated with variability in drug response. Since pharmacogenomics is one of the large-scale “omic” technologies, it can examine the entirety of the genome, rather than just single genes. Pharmacogenomic studies may also examine genetic variation among large groups of people (populations), for example, in order to see how different drugs might affect different racial or ethnic groups. 1

Pharmacogenetics and pharmacogenomics are often used interchangeably but do have distinct meanings. Although either term refers to the use of genetic information to guide therapeutic decision-making:

  • Pharmacogenetics focuses on the influence of single genes on drug response.
  • Pharmacogenomics takes a broader view of the influence of an individual’s entire genome on his or her response to drug therapy. 2

Pharmacogenetic/ Pharmacogenomic testing is available and used as an instrument to predict how an individual may process and metabolize hundreds of different medications including those used for treating cardio-vascular, pulmonary, neurological, psychiatric, oncological and many other disorders.  This innovative approach enables medical treatment optimization and adverse reactions avoidance.

Pharmacogenetics & Pharmacogenomics – benefits and barriers

The powerful combination of pharmaceutical and genetic science and its application leads to several benefits for the separate patient and for the health care system, overall:

  • More effective medicines
  • Better and safer drugs from the first time (overcoming “trial-and-error”)
  • More precise drug dosage adjustment
  • Advanced disease prevention, prediction and screening
  • Improvements in the drug discovery and approval process
  • Decrease in the overall cost of health care services

Pharmacogenomics eventually can lead to an overall decrease in the cost of health care because of decreases in: (1) the number of adverse drug reactions; (2) the number of failed drug trials; (3) the time it takes to get a drug approved; (4) the length of time patients are on medication; (5) the number of medications patients must take to find an effective therapy; (6) the effects of a disease on the body (through early detection). 3

Pharmacogenetics and pharmacogenomics are rapidly developing areas in today’s health care that make personalized medicine an expanding reality. Adoption of these approaches in medical practice is essential for improving drug therapy and prescriptions in the future. However, there are several challenges and certain barriers that hinder pharmacogenomics application on broader scale, some of which are:

  • lack of physician awareness for test availability and result interpretation,
  • lack of specific infrastructure for performing precise analyses and for genomic data storage and sharing,
  • existence of reimbursement, patient access, regulatory and ethical issues.

Organized by the Bulgarian Association for Personalized Medicine (BAPEMED) and the Biotech Atelier the Pharmacogenetics & Pharmacogenomics workshop will bring together leading local and international experts in the field to present interesting themes highlighting the potential of pharmacogenomic approach and to discuss benefits and barriers and how to move “from gaps to bridges”.


All times are in Eastern European Summer Time (EEST) / UTC +3

 – 10:15

Welcome and opening

Dr. Stanimir Hasurdjiev
Gergana Kyosovska
Bogi Eliasen

 – 10:45

Personalized Medicine – the New Reality in Medical School?

Prof. Dr. Victoria Sarafian

 – 11:15

Moving from disease treatment to disease prevention – personalization is the key

Boryana Gerasimova

 – 11:45

Implementation of Pharmacogenetic testing: what are the priorities?

Prof. Ann Daly

 – 12:15

Pharmacogenetics in oncology clinical practice

Prof. Radka Kaneva

 – 12:45


 – 13:15

Progressing a data driven healthcare system

Prof. Joanne Hackett

 – 13:45

Donor-derived cell-free DNA testing in organ transplantation: a value proposition

Prof. Michael Oellerich, MD, HonMD, FAACC, FAMM, FFPath (RCPI), FRCPath

 – 14:15

Enhancing Precision Medicine and Pharmacogenetics through Clinical Mass Spectrometry Platform

Prof. Dobrin Svinarov, MD

 – 14:45

Rational Cancer Therapy

Assoc. Prof. Zdravka Medarova

 – 15:00

Closing discussion and remarks


Ann Daly

United Kingdom

Ann Daly

Professor of Pharmacogenetics at the Faculty of Medical Sciences
Newcastle University, Newcastle upon Tyne, UK
Bogi Eliassen


Bogi Eliasen

Director of Health at the Copenhagen Institute for Future Studies
Chair of the Danish UNESCO Bioethical Committee
Boryana Gerasimova


Boryana Gerasimova

Healthcare entrepreneur, patient advocate, motivational speaker
Founder of Re:Gena
Joanne Hackett

United Kingdom

Joanne Hackett

Head of Genomic and Precision Medicine, EMEA
Radka Kaneva


Prof. Radka Kaneva, PhD

Executive Manager of Molecular Medicine Center at Medical University of Sofia
Member of BAPEMED Executive Board
Gergana Kyosovska


Gergana Kyosovska-Peshtenska

Project Manager “Personalized Medicine”, Institute for Medical Research (IMR)
Expert “Patient Support Programmes” and Patient Advocate, BAPEMED
Michael Oellerich


Michael Oellerich

Research Professor
George-August University, University Medical Center Goettingen (UMG)
Dobrin Svinarov


Prof. Dr. Dobrin Svinarov, MD. PhD, Dr. Med Sc

Head of Clinical Laboratory and Clinical Pharmacology at Alexandrovska University Hospital / Chairman of the Department of Clinical Laboratory and at the Faculty of Medicine, Medical University of Sofia / President of the Bulgarian Society of Clinical laboratory
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