Genetics helps with an unsuspectedly wide range of diseases

What are the specific skills of a geneticist?

We can identify individuals with inherited cancer syndromes whose blood relatives are enrolled in an intensive prevention and risk reduction program before the cancer develops – this group includes many families with familial breast and ovarian cancer, and familial nonpolyposis colon cancer. We can identify families with familial hypercholesterolaemia and initiate specific contemporary treatment simply by the presence of cholesterol deposits on the skin of one family member. We work with families at increased risk of sudden fatal cardiovascular events and have programs in place for follow-up and risk reduction. We identify the cause of physical and intellectual developmental delays in children based solely on abnormalities in clinical laboratory micronutrient test results. We identify the genetic defect in the family, apply targeted treatment and support family planning. We develop a detailed clinical follow-up plan for children with specific genetic syndromes. We often become friends with the families we care for because we have a long-standing relationship with them – they have chosen us to walk this path together. In short: a genetic doctor must possess multidisciplinary medical knowledge at the same time as in-depth specific expertise and, last but not least, purely human qualities such as empathy, respect, patience and tact.

How does genetic counseling work?

Genetic counseling is a specific type of conversation between a patient and a clinical geneticist. This specialist may have a different educational background, but in most European countries, as well as according to the law in Bulgaria, he or she must be a doctor with a specialty in medical genetics.

When genetic testing needs to be done, in most cases you will also be referred for a genetic consultation, during which the doctor will explain what the test is and what the genetic nature of the disease is. He or she will explain the benefits and risks of getting tested, discuss with you the possible consequences and the possible choice of a particular type of treatment – medical, surgical or otherwise. He will point out with specific data what your risk is compared to other people in the population of developing a particular condition and present the latest guidelines for prevention, early diagnosis or risk reduction. In some cases, the result could also be of great importance to relatives when it comes to identifying genetic variants with a significant effect on health. The specialist will discuss with you the likelihood of genetic variants being passed on to offspring and what consequences this could have for you and your partner. The counselor makes recommendations for the treating physician and can help the patient connect with other patients with the same problem.

What kind of patients seek genetic counseling?

Excluding some, few, specific areas of medicine, such as trauma medicine, there is almost no specialty for which a geneticist is not needed. Our work covers areas such as cancer, inherited and congenital diseases, and prenatal diagnosis. In a larger hospital with a genetic consultation, such as ours, it happens that within one day the geneticist meets cancer patients with sporadic and hereditary forms of cancer (breast cancer, colon cancer, rare hereditary cancer predispositions) or their relatives; families with children with congenital malformative conditions, metabolic disorders, global developmental impairment, delayed physical and/or motor development, microdeletion syndromes; with pregnant women with abnormal pregnancies or expectant parents worried about hereditary diseases in their lineage; families with reproductive disabilities; patients with neurological diseases (hereditary forms of epilepsy, hereditary neuromuscular degenerative diseases) or cardiovascular diseases (hereditary cardiomyopathies, hereditary aortopathy); patients with hereditary predisposition to venous thromboses; hereditary deafness and many others. Our patients include infants, children, the elderly, pregnant women, people with genetic or cancer disease, or troubled healthy relatives. These are rarely extremely rare diseases, with only a few cases described in the world.

What is the point of genetic testing?

A large part of genetic testing is aimed at making an accurate diagnosis. When the diagnosis is unequivocally proven, the risk for one or other complication or the course of the disease is often known, the patient and his or her doctor know what to expect and what the risk is – this is the prognostic effect of genetic testing. In an increasing number of cases and for an increasing number of conditions, genetic analysis plays a key role in therapeutic and clinical decision-making. The presence of a well-defined pathogenic genetic variant may be associated with a specific advanced therapy – this is the predictive side of genetic testing. This approach is at the heart of so-called personalized medicine – we treat patients not (only) generally and by symptoms, but also according to their unique and specific situation. Of course, not all genetic diseases that can be diagnosed also have a cure or can eliminate the cause of the disease. But when we know the exact diagnosis and what symptoms are expected, we can greatly improve the quality and length of life through symptomatic, preventive and supportive measures. I know from experience that there have been cases in which parents of a child with severe physical and intellectual impairment, who have searched for years for the cause of the disease, feel tremendous relief when genetic analysis finally answers their question. Even if this does not change the child’s situation or allow for the introduction of a new treatment, it is important for parents to understand the biology of things. In some cases, this is crucial and they can be dissuaded from having another child because they already know and can prevent the cause of what happened.

What is the future of medical genetics?

The medical genetics laboratory with genetic counseling in ‘Heart and Brain’ Pleven started its construction in 2020 and started working slowly but tirelessly in the vortex of the pandemic, in 2021. I am grateful for the opportunity to put and materialize all my knowledge and heart into the development of the laboratory – the team, the equipment, the working style and the standard in quality. I am fortunate to work with talented young professionals – biologists and physicians who want to pursue a career in genetics. I hope to be able to expand our team so that each major area in human genetics – oncology, syndromology, late-onset familial diseases – is covered by a dedicated team of biologist and physician who can develop their expertise in the field. There is a shortage of such experts in our country, but also worldwide. I believe that in parallel with the development of such a specialist school, we will build up over time until we provide our patients with a near full range of diagnostic tests, either through our own expertise and facilities, or by working with partners, which is generally more realistic and standard around the world. However, for this to happen, it is necessary that these analyses are available to all. That is why, together with colleagues, supporters and patients, we regularly provide government institutions with information about the real situation of people with genetic diseases in Bulgaria and seek the possibility to have these analyses covered by insurance.

A major trend in health care worldwide is prevention and early diagnosis, a large part of which is based on genetic testing. Although in Bulgaria we are still far from providing access to such tests for all insured persons, in our hospital we are developing and offering within multidisciplinary teams the possibility of monitoring target groups of patients for specific conditions. For example, together with the clinics of surgery, oncology, radiotherapy, psychology and others, we are developing a plan for the early diagnosis and prevention of breast cancer, in particular in families with a familial form of the disease, also covering healthy relatives at increased risk of developing cancer. The long-term effect of such measures is one of the strengths of our specialty.