Prevention Of Genetic Disorders Research Articles

The frontier of precision medicine: application of single-cell multi-omics in preimplantation genetic diagnosis.

The advent of single-cell multi-omics technologies has revolutionized the landscape of preimplantation genetic diagnosis (PGD), offering unprecedented insights into the genetic, transcriptomic, and proteomic profiles of individual cells in early-stage embryos. This breakthrough holds the promise of enhancing the accuracy, efficiency, and scope of PGD, thereby significantly improving outcomes in assisted reproductive technologies (ARTs) and genetic disease prevention. This review provides a comprehensive overview of the importance of PGD in the context of precision medicine and elucidates how single-cell multi-omics technologies have transformed this field. We begin with a brief history of PGD, highlighting its evolution and application in detecting genetic disorders and facilitating ART. Subsequently, we delve into the principles, methodologies, and applications of single-cell genomics, transcriptomics, and proteomics in PGD, emphasizing their role in improving diagnostic precision and efficiency. Furthermore, we review significant recent advances within this domain, including key experimental designs, findings, and their implications for PGD practices. The advantages and limitations of these studies are analyzed to assess their potential impact on the future development of PGD technologies. Looking forward, we discuss the emerging research directions and challenges, focusing on technological advancements, new application areas, and strategies to overcome existing limitations. In conclusion, this review underscores the pivotal role of single-cell multi-omics in PGD, highlighting its potential to drive the progress of precision medicine and personalized treatment strategies, thereby marking a new era in reproductive genetics and healthcare.

Political-organisational aspects for the prevention of genetic diseases

The explosive advances in medical genetics are, as is well known, very recent, but they already constitute major references in the preparation of the new models of health action postulated by the establishment of the national health service. They have made possible and at the same time necessitated extensive legislative and organisational design work for the prevention, diagnosis and treatment of genetic diseases. Translated with DeepL.com (free version)

CLINICAL CASE OF RARE SMITH-MAGENIS SYNDROME IN NEWBORN CHILD

Aim. The purpose of the work is a comprehensive analysis of chromosomal pathology based on own detection of a rare clinical case of Smith-Magenis syndrome in a newborn child, the results of which may be useful for the detection and prevention of hereditary diseases. Materials and methods. Based on the analysis of literature data, it was found that clinical cases of rare (SMS) in newborns occur with a frequency of 1 in 25,000–1:15,000. This syndrome is caused by a chromosomal rearrangement that leads to the loss of significant segments of one chromosome from the 17th pair of chromosomes. There is a deletion of genetic material in the region of chromosome 17 (17p11.2), which is why SMS is sometimes called 17p syndrome. In this work, the analysis of clinical symptoms and laboratory-instrumental examinations, the main of which are cytogenetic (karyotyping) and molecular genetic methods, were used to confirm the diagnosis of the disease. The results were obtained during the study of the biological material of the lymphocyte culture of the peripheral blood of the child, mother and father. As a result of the cytogenetic study of the child, the karyotype 46, ХУ, del(17) (p11.2p11.2) was established, that is, a male karyotype with an interstitial deletion in the short arm of chromosome 17 within the band 17p11.2. The mother's karyotype is 46, XX, no chromosomal abnormalities were detected. The father's karyotype is 46, XU, no chromosomal abnormalities were detected. A molecular genetic study of blood leukocytes was conducted to establish the presence of microdeletions/microduplications in the corresponding loci. The result of the study is rsa17p11.2(P245)x1. Chromosome imbalance was established in the form of RAI1, DRC3, LLGL1 gene deletion in the 17p11.2 region, which verifies Smith-Magenis syndrome. Conclusions. In the work, a comprehensive analysis of chromosomal pathology was carried out based on the own detection of a clinical case of a rare Smith-Magenis syndrome in a newborn child. A detailed anamnesis, clinical manifestations, a set of laboratory-instrumental studies, the main ones of which are cytogenetic (karyotyping) and molecular genetic methods, are used for targeted examination, verification of the diagnosis and assessment of disease manifestations. The biological material of the peripheral blood culture (lymphocytes, leukocytes) of the child and parents was used. The results of a comprehensive analysis of chromosomal pathology based on one's own clinical case of the rare Smith-Magenis syndrome in a child of the neonatal period can draw the attention of primary care physicians to the study of syndromes of hereditary diseases and, in the differential diagnosis of patients, direct them to a medical-genetic consultation for cyto- and molecular-genetic studies.

Knowledge of genetics and attitudes toward genetic testing among university students in Indonesia.

The development in human genetics must be tracked with the knowledge to provide support and positive attitudes towards genetic research and its healthcare applications, including genetic testing. Unfortunately, there has been a delay in enacting public policies related to the genetics professionals as well as the diagnosis, treatment, and prevention of genetic diseases in Indonesia. This research was conducted to build an overview of genetic knowledge and public attitudes toward genetic testing among Indonesian undergraduates. This cross-sectional study involved undergraduate students selected using the convenience sampling method. The questionnaire consisted of two parts: a true/false questionnaire (16 statements) regarding knowledge of genetics and a 5-points Likert scale questionnaire (27 statements) pertaining to attitudes towards genetic testing. A total of 1596 undergraduate students completed online questionnaire. The highest knowledge score and the most positive overall attitudes were observed in the healthcare-related majors compared to those who studied science and technology and social and humanity. A weak positive correlation was observed between knowledge and attitude toward genetic testing (Pearson's r = 0.206, p < 0.001). Undergraduate students from healthcare-related majors displayed better in both knowledge of genetics and had more positive attitudes toward genetic testing.

‘If I Knew More… I Would Feel Less Worried’: Filipino Americans’ Attitudes and Knowledge of Genetic Disease, Counseling, and Testing

Introduction: The field of genetics is rapidly expanding and people are increasingly utilizing genetic testing and counseling services. However, the current literature on genetic health topics and Filipinos remains limited, as many minority populations are not adequately studied. This study describes Filipino Americans’ attitudes and knowledge of genetic disease, genetic testing, and genetic counseling. To address these knowledge gaps and reduce the burden of health disparities, the informational needs of Filipino Americans regarding genetic disease and genetic services must be understood in order to better tailor these services and outreach methods. Methods: Fifteen semi-structured, qualitative interviews were held with individuals who self-identified as Filipino American between November 2022 and January 2023. Interviews were transcribed and coded using an iterative process. Results: Most participants were familiar with genetic disease and believed that factors such as biology, as well as cultural factors such as upbringing and food, contributed to its development. The majority of participants had previously heard of genetic testing; however, most participants either did not know much or were only familiar with ancestry direct-to-consumer genetic testing (DTC-GT). Most participants had not heard of genetic counseling and those that had heard of genetic counseling before did not understand its purpose. Overall, most participants had a positive attitude toward genetic testing and counseling. Participants identified the benefits of these services including genetic disease prevention, management, and treatment. Participants stressed the importance of educating the Filipino community and shared their ideas for how to implement outreach efforts. Discussion/Conclusion: This study found that Filipino Americans generally had a positive outlook on genetic testing and genetic counseling. We propose participant-generated ideas for outreach and education that may help inform future public health efforts that aim to educate this population about genetic disease, testing and counseling.

Allele and genotype frequencies for primary hereditary cataract, multifocal retinopathy 1, and degenerative myelopathy in Pyrenean Mountain dog from Italy

Pyrenean Mountain Dog (PMD) is an ancient dog breed firstly described in XIV century in the Pyrenees Region and nowadays diffused both in Europe and in the US. Hereditary Cataract (HC), defined as the inherited opacity of the lens, involves clinical signs ranging from reduced vision to glaucoma. A molecular basis of HC was firstly described in Staffordshire Bull Terriers and then reported in multiple canine breeds. The HC-associated variation is a single nucleotide deletion in HSF4 gene that introduces a premature stop codon (c.962del, p.Ala321*). Multifocal Retinopathy 1 (MR) is an ocular disorder characterized by multiple areas of retinal degeneration, caused in various dog breeds (including PMD) by a single nucleotide variant (SNV) in BEST1 gene that generates a premature stop codon (c.73G>A, p.Arg25*). Degenerative Myelopathy (DM) is an adult-onset, progressive neurodegenerative disease and it is associated to a SNV in SOD1 gene causing a change in aminoacidic sequence of the protein (c.118G>A, p.Glu40Lys). This causative variant has been described in various dog breeds, including PMD. Aim of this study was to determine the allele frequencies for the abovementioned three genetic diseases in the Italian breeding PMD population. The survey found no dogs carrying the allele (deletion) associated with HC, while three dogs (6 %) were heterozygous (G/A) for the MR-associated variant, and seven dogs (13 %) were heterozygous (G/A) for the DM-associated alteration, indicating that the variant alleles frequency were 0 %, 3 %, and 7 %, respectively. Appropriate mating management is suggested for the prevention of genetic diseases spreading in the PMD population.

Developing the scale of genetic/genomic awareness in pediatric nurses

ObjectiveIn recent years, genomic information and technology have been increasingly integrated into healthcare services for the prevention of genetic diseases, screening, diagnosis, treatment selection, and follow-up of treatment efficacy. The aim of the study was to develop the Scale of Genetic/Genomic Awareness in Pediatric Nurses (SGAPN) and to evaluate its psychometric properties. Material and methodsThis was a methodological study covering the development of the SGAPN and testing its psychometric properties. SGAPN items were developed based on a literature review and were evaluated by content validity. The SGAPN was then tested for internal consistency coefficients, face validity, criterion validity, and construct validity in a convenience sample of 280 pediatric nurses. ResultsThe SGAPN is a scale consisting of 32 items. Its Cronbach alpha value was calculated as 0.893. It has a structure with three factors including “genetic/genomic information” (13 items), “genetic transmission information” (7 items), and “genetic education and practices” (12 items). The Cronbach alpha values of the factors were 0.845, 0.600, and 0.893, respectively. ConclusionIt is suggested that the SGAPN can be used as a valid and reliable scale in the evaluation of the genetic/genomic information, education, and practices of pediatric nurses.

CLASSIFICATION OF HEREDITARY DISEASES (LECTURE)

Relevance. The classification of hereditary pathology largely determines the success of diagnosis and treatment of genetically determined diseases. The lecture presents the main criteria for the classification of hereditary pathology, adopted in genetics. The features of the distribution of genetic diseases according to the types of inheritance, the level of localization of mutations, according to organ and system principles, as well as according to the biochemical principle, are highlighted. Explanations are given on the expediency of grouping diseases according to the types of classification. The connection of classifications with the treatment and diagnosis of hereditary pathology is shown. For each group of classifications, examples of hereditary syndromes and diseases are given. Conclusion. The classification of hereditary pathology is an important key to the diagnosis, treatment and prevention of hereditary diseases. At the moment, the OMIM Mendelian inheritance database contains information on more than 16,000 mutations of genes that determine hereditary syndromes (diseases), which is an order of magnitude more than the number of known nosological forms of somatic diseases. Classification helps the practitioner to understand the etiology, pathogenesis, clinical manifestations of hereditary diseases and is one of the most important diagnostic steps.

Expert consensus on the detection of genome-wide copy number variations in abortive tissues and family reproductive consultation

Chromosomal aberrations including numerical abnormalities and segment duplications/deletions, as genome-wide copy number variations (CNVs), are a leading cause for spontaneous abortion. Analysis of abortive tissues for such CNVs can detect potential genomic variations in the couple and provide guidance for the choice of appropriate method to avoid further miscarriage or birth of child with chromosomal disorders. With evidence-based clinical data, an expert group jointly formed by the Genetic Disease Prevention and Control Group, Committee for Birth Defects Prevention and Control, Chinese Association of Preventive Medicine; the Clinical Genetics Group, the Society of Medical Genetics, Chinese Medical Association; the Professional Committee for Prenatal Diagnosis of Genetic Diseases, the Society of Medical Geneticists, Chinese Medical Doctor Association has discussed and formulated this consensus, with an aim to provide guidance for the application of genomic CNVs detection for the abortive tissue and genetic counseling for family reproduction.

RISKS OF GENETIC EDITING OF THE HUMAN GENOME, TAKING INTO ACCOUNT THE RECOMMENDATIONS OF THE WORLD HEALTH ORGANIZATION

The relevance of the study is determined by the need to take into account the risks of human genome editing (somatic and germ-line) taking into account the international recommendations of the World Health Organization (WHO), the possibilities of introducing such editing into clinical practice. Potential benefits of human genome editing include new strategies for diagnosis, treatment and prevention of genetic disorders, new treatments for infertility,innovative ways to increase disease resistance, they contribute to the development of vaccines and the expansion of knowledge about the human body as a whole. However, human genome editing requires examining risks and benefits. Purpose: to analyze the possible risks of human genome editing, taking into account the international recommendations of WHO to form the conditions for the admissibility of genetic eaiting in clinical practice. Methods: general scientific (logical, systemic, structural-functional, comparative, analogy and modeling, observation, analysis of international regulations: conventions, doctrines, treaties, resolutions, declarations, analysis of WHO activities based on information posted on websites), specific scientific (institutional, functional assessment, differentiation), special legal (formal legal, comparative legal interpretation).Results: human genome editing (somatic and germline) has significant potential for humanity and health, medicine and science systems. In the Russian Federation, there is a need to develop legislation to enable the application of genetic editing, taking into account risks and benefits; to define the concept and difference of somatic editing and germ-line editing; to fix thegrounds of restrictions of application of genetic editing in «serious disease or disorder of the organism» and «improvement of functions of the organism»; todefine the concept and legal status of embryo and other substances of embryonic origin, as well as possibilities of using embryos for scientific and medical purposes.

International experience in the primary prevention of cystic fibrosis (part one)

Preconceptional genetic screening (genetic testing of individuals at the stages of family planning and birth of a healthy child) has an important place in the prevention of hereditary diseases. This review focuses on the preconceptional prevention of cystic fibrosis (CF), one of the most common hereditary diseases of the Caucasian race. The first part highlights the general principles of screening for hereditary diseases, including CF, the advantages and disadvantages of pan-ethnic screening for CF, and the economic rationale for the programme, using international studies and guidelines, as illustrated by international sources.

Knowledge about some aspects of Genetics in physicians of primary care

Introduction: the national program for diagnosis, management and prevention of genetic diseases is being conducted in our country with the main goal of a community-based scope, being applied by general comprehensive physicians. Mistakes in interpreting basic concepts in Genetics usually appear among family doctors and may disturb the proper development of the program. Objective: to identify training needs among professionals working in primary health care about Clinical Genetics. Methods: a descriptive and transversal research was conducted. An evaluation instrument validated by experts, was applied to18 doctors working in the primary health care areas of the Faculty of Medical Sciences Miguel Enriquez, who voluntarily accepted to participate in the research. Results: in most cases amniocentesis concept was no correct. This mistake was also observed in the literature. Doctors graduated after 2009, who were taught Medical Genetics as a curricular subject, had the best results. Conclusions: the design of postgraduate courses in Genetics, for doctors working in primary healthcare, must also include practical features, and emphasize on some conpts necessary for the development of the Genetics program

Intrauterine Fetal Gene Therapy: Is That the Future and Is That Future Now?

Researchers are looking into techniques to intervene sooner and earlier in the disease process thanks to advances in disease genetics, etiologies, and prenatal diagnosis. We conducted a literature search in PubMed-indexed journals to provide an overview of the evolution of gene therapy, rationale for prenatal gene therapy, uses and risks of gene therapy, and ethical issues following the usage of gene therapy. Recent animal research has revealed that transmitting genetic material to a growing fetus through viral and non-viral vectors is conceivable besides proving how gene-editing technology is achieved by various mechanisms that utilize zinc finger nucleases, TAL effector nucleases, and clustered short palindromic repeats-Cas9 complex. This review offers an overview of the current knowledge in the field of prenatal gene therapy, as well as potential future research avenues. In addition, it weighs the risks of prenatal gene therapy, such as oncogenesis, genetic mutation transfer from mother to child, and fetal disruption, against the expected benefits, such as preventing the development of severe early-onset illness symptoms, targeting previously inaccessible organs, and establishing tolerance to the therapeutic transgenic protein, all of which lead to permanent somatic gene correction.This review discusses the scientific, ethical, legal, and sociological implications of these groundbreaking genetic disease prevention techniques, as well as the parameters that must be satisfied for a future clinical application to be considered.

Complicated Hereditary Spastic Paraplegia Caused by SERAC1 Variants in a Chinese Family.

BackgroundThe serine active site-containing protein 1 (SERAC1) biallelic variant usually causes MEGDEL syndrome, clinically characterized by increased excretion of 3-methylglutaconic in the urine, muscle hypotonia, sensorineural deafness, and Leigh-like lesions on brain MRI scans. In this study, we present a case from a Chinese family with disordered metabolism and dystonia owing to SERAC1 variants; the clinical phenotypes of the proband were different from those of MEGDEL syndrome but were similar to those juvenile-onset complicated hereditary spastic paraplegia. Thus, in this study, we aimed to confirm the relationship between SERAC1 variants and complicated hereditary spastic paraplegia.MethodsMRI and laboratory tests, including gas chromatography/mass spectrometry (GC/MS), were carried out for the proband. Whole-exome sequencing was used to detect the candidate SERAC1 variants. Variants were verified using Sanger sequencing. Various software programs (PolyPhen-2, MutationTaster, PROVEAN, and SIFT) were used to predict the pathogenicity of novel variants.ResultsBrain MRI scans showed a symmetric flake abnormal signal shadow in the bilateral basal ganglia in T2-weighted image (T2WI) and fluid-attenuated inversion recovery (FLAIR) analyses. The excretion of 3-methylglutaconic acid was found to be increased in our GC/MS analysis. Whole-exome sequencing showed novel compound heterozygous variants, including a novel c.1495A>G (p.Met499Val) variant in exon 14 of SERAC1 inherited from the father and a novel c.721_722delAG (p.Leu242fs) variant in exon 8 inherited from the mother. The pathogenicity prediction results showed that these two variants were deleterious.ConclusionsThis study presented a patient with complicated hereditary spastic paraplegia caused by SERAC1 variants. These findings expand the number of known SERAC1 variants and the phenotypic spectrum associated with SERAC1 deficiency. This study may contribute to counseling and prevention of hereditary diseases through prenatal.

Research into the genesis of innovative products and professions of the future in the context of technological revolutions

A survey method was used to investigate the genetic relationships between innovative products and professions of the future potential technological revolution of the cyber-physical, biomedical, and related spheres. It is shown, that products of biomedical orientation lead in the field of high estimates, with 8 products having a C2-5 score of 4.13-4.08, which is higher than the leading product in cyberphysical area (compact supercomputers – 4.02). In the area of lower scores, the difference in scores between the two areas increases. The leaders among the products of the biomedical field are: successful treatment of heart attack and stroke, vision restoration, successful treatment of 95% of cancer patients, prevention of genetic diseases, treatment of drug and alcohol addiction, hearing restoration, human organ regeneration, and physical organ rehabilitation (C2-5=4.13 to 4.05). Comparison of the specialties from the “Atlas of New Professions” of cyberphysical and biomedical orientation with the corresponding innovative products indicated the presence of genetic links between them. The key requirement for the development of professional skills of human capital in conditions of technological revolutions is the orientation on the professions required for the most demanded innovative products, primarily medical and biological, cyber-physical and cyber-medical specializations. The results obtained can be used for investment forecasts, as well as for long-term planning of professional training of specialists in the period of the emerging technological revolution.

Promissory ethical regimes: publics and public goods in genome editing for human health

Abstract This paper analyses promissory discourse for genome editing and human health in the UK, attending to the articulation of public goods and their beneficiary publics. Focusing on promissory reasoning about an emerging technology field as anticipatory and ethical considerations as integral to such debates, the notion of ethical regime as a mode of governance is applied to the concept of promissory regime. By analyzing key documents and interviews with opinion leaders—thus focusing on the discursive dimension—an enabling promissory ethical regime for genome editing and its contestation are identified. This regime posits scientific knowledge production now, and improved treatment or prevention of hereditary diseases later, as key goods of genome editing for human health and as a sociotechnical project worthy of support. Specific publics are created as beneficiaries. These publics and goods play out as ethical rationales for the promissory governance of the emerging field of human genome editing.

Genodermatoses in Las Tunas Province, Cuba, 1989-2019.

INTRODUCTION Genodermatoses are a group of genetic diseases that affect the skin and adjoining tissues. They represent 15% of genetic diseases worldwide. Cuba established a National Program for the Diagnosis, Care and Prevention of Genetic Diseases and Congenital Abnormalities in 1980, which was implemented in Las Tunas in 1989. In 2010, a specialized multidisciplinary provincial service for genodermatoses patients was established in Las Tunas province. Several studies in Las Tunas show that genodermatoses represent 22.2% of genetic diseases; the most common are ichthyosis (16.7%), mastocytosis (11.7%), and neurofibromatosis (8.3%). Children aged <12 years are the most affected (61.6%). Describe genodermatoses in Las Tunas Province, Cuba, since the implementation of the National Program for the Diagnosis, Care, and Prevention of Genetic Diseases and Congenital Abnormalities, and after the creation of a specialized multidisciplinary provincial service for genodermatoses patients. We conducted an observational, descriptive, retrospective study in 249 patients diagnosed with some type of genodermatosis who received care in Las Tunas during 1989-2019. Variables considered were: type of genodermatosis, complications, deaths and geographic location by municipality. We studied prevalence rates (1989-2019), incidence rates (2010-2019), proportion of complications, survival rates, and types of genodermatosis diagnosed by municipality in two periods (1989-2009 and 2010-2019) one before, and one after the implementation of a targeted multidisciplinary provincial care service. The general prevalence rate of genodermatoses in Las Tunas Province was 46.51 per 100,000 population. The forms with the highest prevalence rates were neurofibromatosis type 1 (13.6 per 100,000 population), classical Ehlers-Danlos syndrome (7.1 per 100,000), ichthyosis vulgaris (5.0 per 100,000) and cutaneous mastocytosis (2.4 per 100,000). The highest incidence rates coincided with the conditions with the highest prevalence: neurofibromatosis type 1 (81.5 per 1000 cases in 2013), classical Ehlers-Danlos syndrome (44.4 per 1000 cases in 2013) and ichthyosis vulgaris (52 per 1000 cases in 2010). From 1989-2009, patients presented a greater frequency of complications, at 40% (22/55) than from 2010-2019 at 21.1% (41/194). Pyodermitis was the most common during the study period (1989-2019), with 29.1% (16/55). Survival was high, at 98.0% (only 5 deaths in 2009, 2010, 2011, 2012, and 2015, and were no deaths during other years) in the study period. The greatest share of genodermatosis cases was registered in the municipality of Majibacoa (0.07%), and consanguinity was found in cases of epidermolysis bullosa, Herlitz type and xeroderma pigmentosum. In Las Tunas Province, Cuba, genodermatoses as a whole are not rare diseases. Those with the highest prevalence and incidence rates are neurofibromatosis type 1, classical Ehlers-Danlos syndrome and ichthyosis vulgaris. After implementation of the specialized multidisciplinary provincial service for genodermatoses patients within Cuba's National Program for the Diagnosis, Care, and Prevention of Genetic Diseases and Congenital Abnormalities, in addition to the active screening implemented by this Program, more cases were diagnosed, and a lower proportion of complications and a higher survival rates were recorded.

Genome-Editing Technologies in Biomedical Research: The Regulatory Conditions for the Development

Significant progress has been made in the development of genetic technologies in recent decades. Currently, high-performance sequencing and, most importantly, genome editing technologies are widely used and available for laboratories in Russia. Existing technologies are not without drawbacks that significantly hinder further development, in addition, all the necessary reagents and materials, as well as equipment, are produced exclusively abroad. The review highlights the international experience of using genome editing technologies for the treatment and prevention of genetic diseases, vector-borne and viral infections, it offers recommendations for the development of this area in the Russian Federation. Attention is drawn to the legal and ethical regulation, mainly at the level of basic principles. The conclusion is formulated on the need for accelerated adaptation of basic ethical and legal principles for genome editing activities in scientific biomedical activities.

Optical Genome Mapping as a Next-Generation Cytogenomic Tool for Detection of Structural and Copy Number Variations for Prenatal Genomic Analyses.

Global medical associations (ACOG, ISUOG, ACMG) recommend diagnostic prenatal testing for the detection and prevention of genetic disorders. Historically, cytogenetic methods such as karyotype analysis, fluorescent in situ hybridization (FISH) and chromosomal microarray (CMA) are utilized worldwide to diagnose common syndromes. However, the limitations of each of these methods, either performed in tandem or simultaneously, demonstrates the need of a revolutionary technology that can alleviate the need for multiple technologies. Optical genome mapping (OGM) is a novel method that fills this void by being able to detect all classes of structural variations (SVs), including copy number variations (CNVs). OGM is being adopted by laboratories as a tool for both postnatal constitutional genetic disorders and hematological malignancies. This commentary highlights the potential for OGM to become a standard of care in prenatal genetic testing based on its capability to comprehensively identify large balanced and unbalanced SVs (currently the strength of karyotyping and metaphase FISH), CNVs (by CMA), repeat contraction disorders (by Southern blotting) and multiple repeat expansion disorders (by PCR-based methods or Southern blotting). Next-generation sequencing (NGS) methods are excellent at detecting sequence variants, but they are unable to accurately resolve repeat regions of the genome, which limits their ability to detect all classes of SVs. Notably, multiple molecular methods are used to identify repeat expansion and contraction disorders in routine clinical laboratories around the world. With non-invasive prenatal testing (NIPT) becoming the standard of care screening assay for all global pregnancies, we anticipate that OGM can provide a high-resolution, cytogenomic assay to be employed following a positive NIPT screen or for high-risk pregnancies with an abnormal ultrasound. Accurate detection of all types of genetic disorders by OGM, such as liveborn aneuploidies, sex chromosome anomalies, microdeletion/microduplication syndromes, repeat expansion/contraction disorders is key to reducing the global burden of genetic disorders.

MEDICAL AND GENETIC CONSULTING IN THE CLINICAL PRACTICE OF AN ANDROLOGIST

There is a system of genetic consultation, which includes diagnostics, defining the type of heredity and prognosis for family. Genetic consultation must help in 8-10% of all families. The staff on MGC consists in clinical genetic, cytogenetic, pediatrician, gynaecologist and other specialists. The main task of genetic consultation is prevention of hereditary diseases.