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The Laboratories of Nadezhda: Genetics Laboratory
“For us, genetics is not just a science—it is a mission: to translate the language of genes into something that serves people.” Interview with Prof. Savina Hadjidekova, MD, PhD, Head of the Genetics Laboratory.
03.11.2025 | 14:29
The Genetics Laboratory at Nadezhda Hospital is among the leading genetic laboratories in Bulgaria, thanks to its highly qualified team and state-of-the-art equipment for advanced genetic testing, including microarray DNA analysis and next-generation sequencing (NGS) technologies. This enables a wide range of specialized genetic tests to be performed on-site, without the need for external providers and without delays in obtaining results.
The laboratory offers a comprehensive portfolio of genetic tests—from diagnostics for reproductive disorders and prenatal testing to screening for hereditary diseases and assessment of genetic predisposition to cancer and cardiovascular conditions.
In 2008, the Nadezhda team introduced Bulgaria’s first Preimplantation Genetic Testing (PGT) program for IVF embryos—an innovation that marked the beginning of a new era in the care of patients facing reproductive challenges.
To learn more about the work of the Genetics Laboratory, we spoke with its Head, Prof. Savina Hadzhidekova, MD, PhD.
Prof. Hadzhidekova is Head of the Genetics Laboratory at Nadezhda Hospital and Head of the Department of Medical Genetics at the Medical University of Sofia.
She serves as President of the Bulgarian Society of Human Genetics and Genomics and is a member of the European Society of Human Genetics, as well as the Academic and Faculty Councils of the Medical University of Sofia.
Prof. Hadzhidekova currently serves as Chief Coordinator of the National Expert Council on Medical Genetics at the Bulgarian Ministry of Health and as an external expert to the National Health Insurance Fund. She has participated in more than 30 scientific projects and has authored over 100 scientific publications, with more than 300 citations. She has been honored with the Favorite Lecturer, Signum Laudis, and Panacea awards for her outstanding contributions to the development and advancement of the Medical University of Sofia.
1. Prof. Hadzhidekova, when was the Genetics Laboratory established at Nadezhda Hospital, and why is it important for the hospital’s work?
Our laboratory has been part of Nadezhda Hospital since its establishment in 2013. However, the truth is that we have been working alongside the team since 2007—long before the hospital itself existed.
Having our own Genetics Laboratory is a tremendous advantage. All tests are performed on-site—we do not need to wait for results from external centers, valuable time is not lost, and treatment decisions can often be made immediately.
Perhaps most importantly, we are part of a truly multidisciplinary team. Specialists from different fields work under one roof and in the service of the patient. Patients do not need to travel between different laboratories and hospitals to collect results. Everything is available in one place, with a team that can not only perform the testing but also interpret the results and explain them in clear, understandable language.
Today, genetics is no longer a distant or futuristic science—it has become an essential part of everyday medical practice. Genetic testing allows us to establish diagnoses more quickly and accurately and to select therapies tailored to the individual patient. Naturally, this translates into greater chances of successful treatment outcomes.
Ultimately, genetics enables more precise, timely, and personalized care. And when every patient is treated as if they were the only one, outcomes are always better
2. Tell us about your team.
Our team is small but exceptionally close-knit—six professionals who understand one another almost without words and work together in complete harmony and with great responsibility.
Every test we perform is more than just a laboratory result—it represents a person searching for answers, hope, and a future. When we are able to help, the feeling is truly invaluable.
Our team consists of three medical geneticists and three molecular biologists—a combination that allows us to view genetics through both the lens of scientific research and clinical practice.
Maria Serafimova has been with us since 2016. She graduated in Environmental Ecology and Protection from the University of Plovdiv and holds a Master’s degree in Biopharmaceutical Biochemistry. Maria is exceptionally responsible, persistent, and efficient, yet never at the expense of quality. She has the remarkable ability to work at great speed while never overlooking even the smallest detail.
Maria Pancheva joined the team in 2016 and is one of those rare people who seem to possess endless energy and patience. She brings calm even to the most demanding days. She graduated in Biology and holds a Master’s degree in Genetics and Genomics from Sofia University. Within the laboratory, she is known for her extraordinary precision. She is someone you can rely on completely, especially when an unexpected challenge appears at the last moment.
Blaga Rukova has been part of the team since 2013 and is one of the laboratory’s veterans. She graduated in Molecular Biology and holds a Master’s degree in Biochemistry from Sofia University, as well as a PhD in Genetics from the Medical University of Sofia. With more than 20 years of experience, she is the person who always has an answer—even when the data seem impossibly complex. If there is something Blaga does not know about genomic diagnostics, it has probably not been discovered yet.
Dr. Viktoria Spasova is the newest member of our team, bringing fresh energy since 2025. She graduated from the Medical University of Sofia, holds a specialty in Medical Genetics, a PhD in Genetics, and has authored more than 30 scientific publications. Her work focuses on reproductive genetics, women’s health, socially significant diseases, and oncogenetics—areas she approaches with both scientific dedication and deep empathy.
Dr. Rada Staneva has been with us since the very beginning of Nadezhda Hospital. She obtained her specialty in Medical Genetics in 2015 and her PhD in Genetics in 2014.
She currently serves as a member of the National Expert Council on Medical Genetics at the Ministry of Health. Her expertise includes epigenetics, preimplantation genetic testing, cytogenetics, and NGS analysis.
She is the person who always notices the critical detail, asks the right question, and finds the answer. Dr. Staneva works with patients facing reproductive challenges, prenatal abnormalities, and oncological diseases. She has participated in numerous international projects and clinical studies. If there is something Rada cannot do, it has probably not been invented yet—but it likely will not take her long to figure it out.
3. What equipment does the laboratory use and what types of tests can be performed?
Our laboratory is equipped with cutting-edge technology that enables us to perform a broad range of genetic analyses—from classical cytogenetics to advanced molecular and genomic testing. We have a next-generation sequencer (NGS), a microarray scanner, and a real-time PCR system for diagnostic and screening applications. The laboratory also features inverted, light, and fluorescence microscopes, cell culture and sterile-work equipment, incubators, and all necessary infrastructure for cytogenetic, molecular cytogenetic, and molecular genetic analyses.
These technologies allow us to investigate chromosomal abnormalities, hereditary disorders, genes associated with reproductive challenges, and oncogenetic markers that are essential for selecting targeted therapies. In other words, we perform everything from traditional karyotyping under the microscope to whole-genome analyses capable of examining all genes in the human genome simultaneously.
We strive to remain at the forefront of medical science and technology by continuously expanding our expertise and implementing the latest methods in genetic diagnostics. Our goal is to provide every patient with precise, reliable, and high-quality care.
4. What are the most common genetic tests performed at Nadezhda?
At Nadezhda, our primary focus is genetic diagnostics related to reproductive health—one of the fastest-growing areas of modern medicine. We most frequently work with patients experiencing reproductive difficulties, performing karyotyping (chromosome analysis) and various DNA-based tests that can identify genetic changes in both men and women, whether in individual genes or across the entire genome.
We are proud to have been the first team in Bulgaria to introduce Preimplantation Genetic Testing (PGT) in 2008. Since then, we have analyzed more than 10,000 embryos—a remarkable number that represents thousands of family stories and fulfilled dreams.
We also perform prenatal genetic testing during pregnancy, as well as analysis of miscarriage tissue, which often helps identify chromosomal or structural abnormalities responsible for pregnancy loss.
Another important service is our expanded carrier screening program for couples planning a pregnancy. This test determines whether prospective parents carry mutations associated with inherited diseases. In this way, we can significantly reduce the risk of having a child affected by a serious genetic disorder—essentially providing genetic prevention at its most meaningful level.
In addition, we offer preventive genetic testing for hereditary cancer syndromes, as well as comprehensive genomic analyses that examine all genes within the human genome. These tests are no longer part of the medicine of the future—they are an integral part of modern personalized healthcare.
Our newest area of focus is newborn genetic screening, which can detect more than 200 genetic disorders that remain invisible through standard newborn screening programs. This test is particularly valuable because many of these conditions may not become apparent until months or years later, while early diagnosis can dramatically change a child’s life.
We are also actively involved in oncogenetics, analyzing the genetic characteristics of tumors in patients with colorectal, breast, uterine, skin, and brain cancers. These tests help physicians select the most effective targeted therapies and, in many cases, less toxic treatment options.
In short, we cover the full spectrum of genetic diagnostics—from the earliest days of life to complex oncological conditions. Behind every sample stands our central mission: to transform the information hidden within DNA into better care for every patient.
5. Is special preparation required for genetic testing, and what are the steps for patients?
The good news is that most genetic tests require no special preparation. There is no need to fast, skip your morning coffee, or stop taking your medications—you simply come to the laboratory, and we take care of the rest.
In most cases, testing is performed using a standard blood sample, similar to any routine laboratory test. For tumor analyses, we usually work with tissue samples that have already been preserved in paraffin blocks, meaning no additional procedure is required for the patient.
When it comes to newborn genetic screening, the process is particularly gentle and quick. Only a few drops of blood are collected from the baby’s heel and placed onto a special filter card. This sample can often be collected at the same time as the routine newborn screening test, avoiding the need for an additional procedure.
6. How long does it take to receive results, and who interprets them?
Genetic test results are much more than numbers and letters—they contain complex information that must be interpreted correctly. According to medical standards, genetic results should be interpreted by a physician specialized in Medical Genetics. These specialists are uniquely qualified to translate the language of DNA into meaningful, understandable information.
Turnaround time depends on the type of test. For example, analyses that guide treatment selection for oncology patients are typically completed within five working days. More comprehensive investigations, such as whole-genome sequencing, may take up to ten weeks due to the depth and complexity of the analysis involved.
A consultation with a geneticist serves as a roadmap throughout the entire process. It is strongly recommended—and in some cases mandatory—even before testing begins. During the consultation, family history, clinical information, potential risks, and expectations are discussed. The geneticist helps determine which test is most appropriate, since not every genetic test is suitable for every individual.
After testing, interpretation becomes the most important step. The geneticist does not simply deliver a result; they explain what it means for the patient, for family members, for future children, and what next steps may be appropriate.
In other words, genetic counseling is not a formality—it is an essential part of the testing process. It ensures that genetic information is properly understood and used to support informed, compassionate, and medically sound decision-making.
7. You work closely with the hospital’s other laboratories. Where do your paths intersect?
At Nadezhda, the word team has a very real meaning—no one works in isolation. We collaborate closely with colleagues from every laboratory and department because we believe the best patient care comes from specialists working together toward a common goal.
Our closest collaborations are with the Embryology, Andrology, Pathology, and Clinical Laboratories, as well as the Pregnancy Care Unit, IVF Center, and Oncology Clinic. Each of us has a specific role, but we share a common objective: reaching the correct diagnosis and helping patients as quickly and effectively as possible.
For patients experiencing reproductive difficulties, we work side by side with reproductive medicine specialists, embryologists, and andrologists. Together, we investigate the genetic causes of infertility and determine the most appropriate approach for each couple. Through this collaboration and the use of preimplantation genetic testing, we can help prevent the birth of children with severe inherited disorders and reduce the risk of recurrent miscarriage—something that represents hope fulfilled for many families.
When fetal abnormalities are identified during ultrasound examinations, we collaborate closely with the Pregnancy Care Department. Genetic analyses help determine the underlying cause and provide parents with clear, evidence-based information. When a treatable condition is identified, early diagnosis allows the medical team to prepare before birth, ensuring that the newborn receives the necessary care immediately after delivery.
We are also in constant contact with the Neonatology Department, particularly regarding expanded newborn screening and infants suspected of having genetic disorders. Together with the Oncology Clinic, we investigate tumor genetics, hereditary cancer predisposition, and the selection of personalized treatment strategies.
In reality, we meet not only within the hospital but through a shared philosophy: every patient deserves comprehensive, accurate, and timely care in one place. Our mission is to make genetic testing accessible, understandable, and truly useful for everyone seeking answers.
8. Genetics and oncology—where do they intersect, and what tests are available at Nadezhda?
Genetics and oncology are deeply interconnected because cancer is, fundamentally, a genetic disease. It develops when mutations accumulate within cells, disrupting their normal patterns of growth and division. Genetic testing allows us to identify these changes and select therapies that specifically target them.
Through genetic analyses, we can determine a tumor’s genetic profile—identifying which mutations are driving its growth and which medications are most likely to be effective. This is the foundation of personalized medicine: instead of a one-size-fits-all approach, each patient receives treatment tailored to the unique genetic characteristics of their disease.
At Nadezhda, we perform a wide range of oncogenetic tests, including analyses of genes associated with hereditary breast cancer, ovarian cancer, colorectal cancer, and many other conditions. These tests help determine whether an individual carries genetic variants that increase cancer risk and enable the development of personalized surveillance and prevention strategies.
Beyond laboratory testing, we also provide genetic counseling for oncology patients and their families. This is critically important because geneticists help patients understand not only the medical implications of their results but also their impact on family members and future health decisions.
In short, genetic testing is no longer simply part of diagnosis—it is an essential pathway to more precise, less toxic, and more effective treatment.
9. What are the scientific interests of your team?
Our work extends far beyond the laboratory. A significant part of our efforts is dedicated to scientific research. Our main interests include reproductive genetics, hereditary diseases and predispositions, oncogenetics, and personalized medicine—areas where genetic information can directly influence treatment decisions and patient outcomes.
We are currently involved in two major research projects in collaboration with the Department of Medical Genetics at the Medical University of Sofia.
One project investigates implantation failure and the role of the endometrial microbiome—the bacterial environment of the uterus—in successful pregnancy development.
The second focuses on genetic variants associated with early arrest of IVF embryo development and recurrent early pregnancy loss. These topics are not only scientifically challenging but also closely aligned with our mission of helping families achieve their dream of having a child.
For us, genetics is not simply a science—it is a mission. Our goal is to translate the language of genes into knowledge that benefits people, uncovering not only the causes of disease but also potential solutions. The deeper we explore this field, the more clearly we see that the future of medicine is personalized, precise, and full of hope.
