. Substantial research on BRCA1/2 germinal mutations in Slovenian population has been already done. 7 - 12 However, we haven’t performed yet an analysis on the frequencies of BRCA1/2 mutations in ovarian cancer patients before the age of 50 years. In Slovenia like in other countries, till recently, personal history of epithelial ovarian cancer (EOC) has not been included among the indications for geneticcounselling. The original aim of this study was to include into the process of geneticcounselling all living patients with epithelial ovarian cancer (EOC) diagnosed in the
Introduction The National Society of Genetic Counselors (NSGC) has introduced and approved the following definition of geneticcounseling: “the procedure of helping people to comprehend the medical and familial implications of genetic contributions to the disease.” This procedure combines: 1) the interpretation of medical histories to evaluate the chance of the disease occurrence, and 2) counseling to improve choices and adaptation to the current risk [ 1 ]. About one billion people in the world live in communities that accept consanguineous marriage [ 2
. This need becomes more pronounced if the results are ambiguous [ 2 , 14 ]. We are already seeing some issues with NGS being raised for geneticcounseling in cancer genetics, nephropathies and arrhythmias. Genetic counselors have always been in the forefront in adopting and integrating new technology into their practice. The new technology would mean that genetic counselors need to cover increasingly more clinically relevant information in their session. The genes that will be tested in the panel, or what it means to analyze a whole genome or exome sequence, the
phenotype. The course from the suspicion of cancer susceptibility to the confirmation of a relevant germline mutation has to go through geneticcounselling, which is the cornerstone of genetic evaluation and subsequent cancer risk management. It is usually provided by oncologists (or other cancer physicians) with special training or genetic counsellors. Consideration for genetic testing should lead to pre-test geneticcounseling, and testing results should be also addressed during post-test counseling. The questions and issues vary widely for individuals and families who
Molecular genetic testing is part of modern medical practice. DNA tests are an essential part of diagnostics and genetic counseling in single gene diseases, while their application in polygenic disorders is still limited. Pharmacogenetics studies DNA variants associated with variations in drug efficacy and toxicity, and tests in this field are being developed rapidly. The main method for molecular genetic testing is the polymerase chain reaction, with a number of modifications. New methods, such as next generation sequencing and DNA microarray, should allow simultaneous analysis of a number of genes, even whole genome sequencing. Ethical concerns in molecular genetic testing are very important, along with legislation. After molecular genetic testing, interpretation of results and genetic counseling should be done by professionals. With the example of thrombophilia, we discuss questions about genetic testing, its possibilities and promises.
Here we report one new case each of an X-autosome translocation (maternally derived), and an X-Y-chromosome translocation. Besides characterizing the involved breakpoints and/or imbalances in detail by molecular cyto-genetics, also skewed X-chromosome inactivation was determined on single cell level using 5-ethynyl-2-deoxyuridine (EdU). Thus, we confirmed that the recently suggested EdU approach can be simply adapted for routine diagnostic use. The latter is important, as only by knowing the real pattern of the skewed X-chromosome inactivation, correct interpretation of obtained results and subsequent reliable genetic counseling, can be done.
Introduction: Heterozygous β-thalassemia represents the mild form of the β-thalassemic syndromes, being compatible with normal lifetime. The importance of β-thalassemia consists in the fact that it maintains the "defective gene" in the population, favoring the appearance of new cases of Cooley's anaemia, the severe form of β-thalassemic syndromes. Current data estimate that 7% of the world's population is bearing β-thalassemia, over 400,000 children with β thalassemia being born annually, therefore the WHO estimates the doubling of this figure in the coming years.
Material and methods: We carried out a retrospective clinical study of over 450 cases diagnosed with β-thalassemia in the Dolj, Constanța and Vâlcea counties, along a period of 10 years (2001-2010), out of which we analyzed the family tree of 10 cases throughout 3-4 generations, starting from the cases of children diagnosed with β-thalassemia.
Results: The number of heterozygous subjects that emerged over 3-4 generations was of 60 cases with β-thalassemia and 9 cases with Cooley's anaemia. Thus, starting from the 10 cases of β-thalassemic married subjects (great grandfathers/great grandmothers, grandfathers/ grandmothers) along 3-4 generations (over a period of 70-80 years) the number of new β-thalassemia cases was 5.4 times higher.
Conclusions: According to our results, the last generation of the studied children and adolescents shows the presence of a total of 18 subjects with β-thalassemia, suggesting the increasing amount of heterozygotes in the population.
Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant disorders with mainly mild cutaneous manifestations. Some patients with NF1, however, develop severe complications such as progressive optic pathway glioma, plexiform neurofibroma or malignant peripheral nerve sheath tumour. Due to potentially progressive and asymptomatic course of the disease, patients with NF1 require a regular multidisciplinary follow-up in coordination with various specialties and early intervention. In this article, we summarise our long-term experience with multidisciplinary follow-up of NF1 patients in the Centre for Neurofibromatosis Type 1 patients at the Children's University Hospital in Bratislava.
down and observe what was vital and fresh about the family in the moment. Anyone who develops expertise in a subject is often asked to share it. Riva was a very active author and contributed to more than 250 papers and books. She also travelled extensively and shared her knowledge with students. The family therapy expertise that was developed at the Royal Free Hospital has now been extended to specialised clinics such as in orthopaedics, women’s bleeding issues and geneticcounselling clinics. As the family-based model is also a systemic model it has also been
, small insertions, small deletions, small indels and gross deletions ( 10 ). Aims of the test To determine the gene defect responsible for the disease; To confirm clinical diagnosis; To assess the recurrence risk and perform geneticcounselling for at-risk/affected individuals. Test characteristics Specialist centers/ Published Guidelines The test is listed in the Orphanet database and is offered by 44 accredited medical genetic laboratories in the EU, and in the GTR database, offered by 28 accredited medical genetic laboratories in the US. Guidelines for clinical use