Next-generation sequencing (NGS) is now widely used in diagnosing rare diseases. However, it has some limitations, such as variants of uncertain significance (VUS). This can present difficulties even for nurse practitioners involved in clinical genetics. We present three cases from our clinical practice: two targeted panel testing and one exome sequencing. Whole blood samples were collected and sent for NGS analysis. In case 1, a VUS was found in the LITAF gene, which is associated with autosomal dominant Charcot–Marie–Tooth disease type 1C. In case 2, a VUS was reported in the MEFV gene, which is associated with autosomal recessive and autosomal dominant familial Mediterranean fever. In these cases, the reported VUS corresponded to the clinical diagnosis. In case 3, two variants in the heterozygous state were found in the ATP7B gene, which is associated with Wilson disease, and the disorder was later clinically recognized. According to the published guidelines, VUSs should not be discussed as a cause for an observed genetic condition. Nevertheless, if the reported variant is in a gene associated with the clinically diagnosed disorder, and there is a strong genotype-phenotype correlation, it could be suggestive of the etiological role of this variant.

Chronic kidney disease (CKD) is part of the modern pandemic of chronic, non-communicable diseases, which is one of the leading causes and causes of death among the world's population. CKD affects nearly 850 million people worldwide and is the 6th leading cause of death. In Bulgaria, the incidence is 12.8%, and 90% of the patients have advanced kidney disease. According to the summarized data of the National Statistical Institute (NSI) and the National Center for Public Health and Analysis at the Ministry of Health for 2018, urogenital diseases accounted for 1.4% of mortality in the country, and this percentage increased in 2019 by 1.7%. The reasons for this probably lie in the increasing frequency of risk factors among the population. In order to early detect the risk factors for CKD and the timely diagnosis of patients with hidden kidney disease and their further followup, in July 2020, the Clinic of Nephrology at the St. Marina University Hospital in Varna, supported by a project of the Medical University of Varna, conducted a free screening campaign for 147 people among the population of Dalgopol municipality. In addition, the campaign aimed to raise public awareness of CKD and renal replacement therapy methods (hemodialysis, peritoneal dialysis, and kidney transplantation). During the campaign, 58 participants (39%) were newly diagnosed with kidney disease. This indicates the lack of routine physical, imaging and laboratory tests and failure to diagnose kidney disease in its early stages. The financial burden that undiagnosed kidney problems, and subsequently end-stage renal disease, entail, puts even highly developed economies to a severe test. Screening and prevention can prevent chronic kidney disease, and where management strategies are in place, the incidence of end-stage renal disease is reduced.

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Всяко едно заболяване носи последствия не само за здравето, но и за всички аспекти на човешкия животработоспособност, социална интеграция, емоционален и психически баланс на личността. Болният човек често пъти не е в състояние сам да преодолее проблема, възникват защитни реакции като гняв, депресия и страх, които влошават заболяването. За медицинските специалисти и особено за специалистите по здравни грижи е от изключителна важност да разполагат с умението да разпознават тези патологични промени в поведението. Спокойствието, увереността и проявата на емпатия са част от ключовите фактори, които могат да изградят доверие у пациента и да му позволят по-лесен преход към болестта, като значително подобряват ефекта от провежданото лечение и качеството му на живот.