Dr Elitza Betcheva: Sometimes the geneticist “stays” with the patient and his family for life

– Dr Betcheva, what does the geneticist do?

The doctor specializing in Medical Genetics completes the standard 6-year training in medicine. Then he specialized for 4 or 5 years (it depends on the country), the so-called human or clinical genetics, and then take a state exam in the specialty. A medical geneticist uses his knowledge to recognize and diagnose genetic diseases and predispositions and, if possible, to offer genetic or other, often personalized, treatment. Another important task of the genetic doctor is to explain to the patient all the necessary information in an understandable format and to read constantly to keep up with the latest data, and there is a lot of it.

– What are the challenges? What kind of patients do you work with?

– Working as a geneticist in clinical practice is very challenging in terms of the range of medical knowledge that one must possess. Excluding some, few, specific areas of medicine such as trauma medicine, there is almost no specialty for which a geneticist does not need to be prepared. In a larger, central clinic with genetic counseling, a geneticist may need to apply knowledge of oncology, embryonic development, pediatrics, neurology, and cardiology in a single day. Patients may be infants, children, the elderly, may be pregnant women, people with genetic or cancer disease, or troubled healthy relatives.

The geneticist should be able to tell at the time of meeting the patient by external features that might normally escape the eye – what is the shape of the nose, how are the eyes positioned, are the body and head dimensions peculiar, what is the posture and gait, are there any skin features. In a large number of cases it is necessary for the geneticist to conduct a thorough examination of the body, which for many patients is a cause of embarrassment. In Western clinics, detailed photo documentation is also done on children or adults with manifestations of genetic syndrome, which in our country is highly unacceptable for many parents and patients. The photographs are necessary for the geneticist to be able to concentrate well after the consultation on any features that he or she has not had the opportunity to address. We often have to consult other colleagues, even from abroad, as these are extremely rare diseases.

At the same time, the geneticist has to be empathetic, to some extent a psychologist, to feel the patient’s fears and emotions and to tailor his approach to them. He or she must know when and how to present information and, especially, certain genetic test results whose implications may be difficult to accept. At the same time, the geneticist has no right to influence in any way the patient’s decision whether to be tested, treated in a certain way or operated on. He must present neutrally and in a fully understandable form all the information necessary for the patient to make an informed decision. The geneticist must have the patience to clarify things repeatedly because the matter is difficult to understand, even for other physicians. Sometimes the patient needs to talk to the geneticist after the consultation when more questions or concerns arise. Sometimes, the geneticist “stays” with the patient and his family side for life.

The full article is available here in Bulgarian.
https://www.24chasa.bg/zdrave/article/12408884