scholarly journals Molecular Genetics and Fetal Brain

2008 ◽  
Vol 2 (3) ◽  
pp. 87-99
Author(s):  
Ana Stavljenic-Rukavina
Keyword(s):  
Genetic Testing ◽  
Clinical Medicine ◽  
Genetic Diseases ◽  
Molecular Genetic ◽  
Fetal Brain ◽  
Clinical Findings ◽  
Ultrasound Assessment ◽  
Molecular Aspects ◽  
Genetically Determined ◽  
Risk Determinants

Abstract Molecular aspects of genetic diseases that affect the nervous system are in the focus of scientific interest investigators from many fields of medicine and the knowledge of genetic abnormalities as well as phenotypic heterogeneity is rapidly expanding. This review is aimed to provide clinician's practical insight into molecular aspects of certain brain abnormalities and disorders based on prenatal ultrasound assessment and clinical findings. Additionally some risk determinants are included in order to elucidate its contribution to molecular mechanism underlying the disease development. Making a specific diagnosis of a genetically determined neurological disorder or defects requires access to a laboratory that can assist in arranging for appropriate testing to be carried out. Therefore this review contains technological aspects of molecular genetic testing, international guidelines and policies related to genetic testing and recommendation for application in clinical medicine.

Genetic testing services in Europe: Quality assurance and policy issues

2001 ◽  
Vol 8 (2) ◽  
Author(s):  
Jean-Jacques Cassiman ◽  
Alastair Kent ◽  
Glenn Miller ◽  
Peter Miny ◽  
Erik Tambuyzer
Keyword(s):  
Quality Assurance ◽  
Genetic Testing ◽  
Science Fiction ◽  
Genetic Counselling ◽  
Genetic Diseases ◽  
Molecular Genetic ◽  
Diagnostic Testing ◽  
Dna Profile ◽  
Patient Groups

The popular press is painting a picture of a future in which everyone has a detailed DNA profile of themselves drawn up. Such a vision of the future, however, is more science fiction than science practice. Predictive tests for complex diseases and cancer, eg colon cancer and breast cancer, are increasingly being used, and the related, and important, genetic counselling may become complex and comprehensive. Quality assurance in genetic testing for both cytogenetics and molecular genetic testing in Europe is also described. The quality of genetic testing in Europe could be substantially improved, and before a genetic test is accepted as a routine diagnostic or prognostic procedure it should have proven clinical utility. Pharmacogenetic testing looks at the efficacy of medicines and their side effects on patients and patient groups, and is increasingly being used to develop better targeted medicines. Genetic testing services and genetic counselling are structured in different ways in Europe, and organisation and reimbursement differ among European countries. Quality and non-directive genetic counselling must be made an integral part of quality genetic testing services, and be sufficiently reimbursed. European networking and identification of reference centres for quality-based diagnostic testing of genetic diseases should be encouraged. Reimbursement within Europe for sample forwarding should be adapted to allow samples to be tested in countries other than the country of origin of the patient.

scholarly journals Case Report: Paternal Uniparental Isodisomy and Heterodisomy of Chromosome 16 With a Normal Phenotype

2021 ◽  
Vol 9 ◽  
Author(s):  
Xu Zhang ◽  
Li Liu ◽  
Yang Liu ◽  
Xin Pan
Keyword(s):  
Prenatal Diagnosis ◽  
Genetic Testing ◽  
Genetic Diseases ◽  
Molecular Genetic ◽  
Uniparental Disomy ◽  
Snp Analysis ◽  
Chromosome 16 ◽  
Pathogenic Variants ◽  
First Case ◽  
Whole Exome

Uniparental disomy (UPD) is a specific type of chromosomal variant that has been detected in both prenatal diagnosis and neonates with advances in molecular genetic testing technologies [mainly chromosome microarray analysis (CMA) technologies containing single-nucleotide polymorphism (SNP) probes]. In this case, we performed non-invasive prenatal genetic testing (NIPT) to screen fetuses for aneuploidy and detected the presence of aneuploidy chimerism and UPD by CMA, including SNP analysis and whole-exome sequencing, to detect pathogenic variants within the genome. The NIPT results suggested an increased number of fetal chromosome 16, and the CMA results indicated that it was the first case of holistic paternal UPD16 with isodisomy combined with heterodisomy, although no abnormal phenotype was seen in the newborn at postnatal follow-up. The homozygous region of the isodimer combined with the heterodimer is smaller than that of the complete isodimer, and it is less prone to recessive genetic diseases. A retrospective analysis of this case of paternally derived UPD16 was used to explore the uniparental diploid origin of chromosome 16 and to provide some reference for genetic counseling and prenatal diagnosis.

SONOGRAPHIC MARKERS OF ASSOCIATION OF FOLATE CYCLE POLYMORPHIC GENES AND EPIGENETIC FACTORS

2021 ◽  
pp. 92-100
Author(s):  
T. D. Alieva
Keyword(s):  
Pregnant Women ◽  
Genetic Diseases ◽  
Molecular Genetic ◽  
Epigenetic Factors ◽  
Childbearing Age ◽  
Screening Programs ◽  
Reproductive Losses ◽  
Adverse Pregnancy ◽  
Genetically Determined ◽  
Folate Cycle

Reproductive losses in Ukraine are about twice the European average, but have the same causes: miscarriage, abortion, malformations, parental infertility, death of women of childbearing age and children under six days of age. The study focuses on genetically determined reproductive losses associated with folate cycle polymorphism, some other polymorphisms, and epigenetic factors that increase the risk of adverse pregnancy outcomes. Methods of systematic and demographic analysis studied the indices of medical and statistical observation of the population of the Kharkiv region within the period of 2008−2018 with an emphasis on the results of biochemical, molecular genetic and sonographic examinations of pregnant women. Data on the number of examined pregnant women were analyzed using ultrasonographic and biochemical studies at the level of alpha−fetoprotein, chorionic gonadotropin and free estriol in the framework of selective screening programs for pregnant women. Statistical data on the number of fetuses and newborns who died during the first − sixth day after birth, with a distribution on the basis of full−term have been studied. The data are compared with similar national indices. The directions of reducing the reproductive losses are offered, including complex inspection of pregnant women with use of ultrasonography, biochemical and molecular−genetic methods of diagnostics of genetic diseases and defects of fetus development. Among the epigenetic factors we have identified obesity and old age of pregnant women, among the types of abortions we did medical abortions associated with stillborn pregnancies, as well as miscarriages. The findings of the study can be used to minimize the effects of risk factors for reproductive loss in the activity of general practitioners. Key words: polymorphism of folate cycle genes, reproductive losses, miscarriage, congenital malformations of fetus, ultrasonography.

scholarly journals Teaching a difficult topic using a problem-based concept resembling a computer game: development and evaluation of an e-learning application for medical molecular genetics

2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Kamila Prochazkova ◽  
Petr Novotny ◽  
Miroslava Hancarova ◽  
Darina Prchalova ◽  
Zdenek Sedlacek
Keyword(s):  
Genetic Testing ◽  
Molecular Genetics ◽  
Clinical Medicine ◽  
Molecular Genetic ◽  
Laboratory Data ◽  
Computer Game ◽  
Real Data ◽  
Genetic Diagnostics ◽  
Sign Test ◽  
Medical Specialties

Abstract Background Genetic testing rapidly penetrates into all medical specialties and medical students must acquire skills in this area. However, many of them consider it difficult. Furthermore, many find these topics less appealing and not connected to their future specialization in different fields of clinical medicine. Student-centred strategies such as problem-based learning, gamification and the use of real data can increase the appeal of a difficult topic such as genetic testing, a field at the crossroads of genetics, molecular biology and bioinformatics. Methods We designed an electronic teaching application which students registered in the undergraduate Medical Biology course can access online. A study was carried out to assess the influence of implementation of the new method. We performed pretest/posttest evaluation and analyzed the results using the sign test with median values. We also collected students’ personal comments. Results The newly developed interactive application simulates the process of molecular genetic diagnostics of a hereditary disorder in a family. Thirteen tasks guide students through clinical and laboratory steps needed to reach the final diagnosis. Genetics and genomics are fields strongly dependent on electronic databases and computer-based data analysis tools. The tasks employ publicly available internet bioinformatic resources used routinely in medical genetics departments worldwide. Authenticity is assured by the use of modified and de-identified clinical and laboratory data from real families analyzed in our previous research projects. Each task contains links to databases and data processing tools needed to solve the task, and an answer box. If the entered answer is correct, the system allows the user to proceed to the next task. The solving of consecutive tasks arranged into a single narrative resembles a computer game, making the concept appealing. There was a statistically significant improvement of knowledge and skills after the practical class, and most comments on the application were positive. A demo version is available at https://medbio.lf2.cuni.cz/demo_m/. Full version is available on request from the authors. Conclusions Our concept proved to be appealing to the students and effective in teaching medical molecular genetics. It can be modified for training in the use of electronic information resources in other medical specialties.

The utility of exome sequencing in diagnosis of hereditary diseases

2020 ◽  
pp. 18-24
Author(s):  
Е.Г. Окунева ◽  
А.А. Козина ◽  
Н.В. Барышникова ◽  
А.Ю. Красненко ◽  
О.И. Климчук ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Next Generation Sequencing ◽  
Exome Sequencing ◽  
Genetic Diseases ◽  
Molecular Genetic ◽  
Hereditary Disease ◽  
Hereditary Diseases ◽  
Molecular Genetic Testing ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

Выявление генетической причины наследственного заболевания является необходимым этапом дифференциальной диагностики, играет важную роль при оценке генетического риска, а в ряде случаев также помогает определить метод и тактику лечения. Выбор метода молекулярно-генетического тестирования может представлять большую трудность в связи наличием целого ряда преимуществ и ограничений у каждого из подходов. Методы различаются по диагностической эффективности, времени и стоимости исследования, причем эти показатели могут значительно отличаться при диагностике разных групп генетических заболеваний. Использование неподходящего метода может существенно увеличить время и стоимость диагностики. В последнее время всё больше данных указывает на высокую эффективность одного из подходов секвенирования нового поколения (next generation sequencing, NGS) - экзомного секвенирования для выявления генетической причины некоторых групп наследственных заболеваний. Экзомное секвенирование позволяет получить информацию об изменениях в кодирующих белки областях генов - экзонах. Проведение трио экзомного секвенирования в семьях дополнительно увеличивает эффективность такого анализа. В статье приведено обоснование случаев клинической и финансовой целесообразности назначения экзомного секвенирования. К таким случаям относятся: редкие генетические заболевания, генетически гетерогенные заболевания у детей 0-3 лет, недавно установленная связь гена с заболеванием, тестирование после отрицательного результата других исследований, для пренатальной диагностики, по финансовым причинам. Identification of the genetic cause of a hereditary disease is a necessary step in the differential diagnosis, because plays an important role in evaluation of genetic risk, and in some cases also helps to determine the method of treatment, for example, for some hereditary metabolic diseases. The subsequent choice of molecular genetic testing method can be very difficult due to the presence of a number of advantages and limitations for each of these approaches. Methods of molecular genetic testing in order to identify the genetic causes of a hereditary disease, first of all, differ in diagnostic efficiency, time and cost of the study. In addition, the characteristics of different methods can also vary significantly for different groups of genetic diseases. Using the wrong method can significantly increase the time and cost of diagnosis. Recently, several data indicate that one of the next generation sequencing (NGS) methods - exome sequencing - has high efficacy for identification of the genetic cause of certain groups of hereditary diseases. Exome sequencing provides information about changes in gene coding regions - exons. A trio exome sequencing in families further increases the effectiveness of such analysis. The article describes the examples of clinical and financial feasibility of exome sequencing to identify the genetic cause of a hereditary disease. Such cases include: rare genetic diseases, heterogeneous diseases in children 0-3 years old, recently established connection of a gene with a disease, testing after negative results of other studies, for prenatal diagnosis, for financial reasons.

LabCorp v. Metabolite Laboratories: The Supreme Court Listens, but Declines to Speak

2008 ◽  
Vol 36 (1) ◽  
pp. 141-149 ◽  
Author(s):  
Roger D. Klein ◽  
Maurice J. Mahoney
Keyword(s):  
Ovarian Cancer ◽  
Genetic Testing ◽  
Genetic Variants ◽  
Clinical Medicine ◽  
Molecular Genetic ◽  
Molecular Genetic Testing ◽  
Breast And Ovarian Cancer ◽  
Disease Response ◽  
Therapeutic Drugs ◽  
The Supreme Court

Molecular genetic testing has increasingly been incorporated into clinical medicine, and this trend is likely to accelerate in the future. The introduction of genetic testing into medical practice is beginning to collide head on with patents that claim ownership of correlations between human genetic variants and predisposition to disease, response to therapeutic drugs, and susceptibility to pharmacologic side effects. Patent holders or licensees of genes, genetic variants, and their genotype-phenotype correlations are already using the threat of litigation to monopolize genetic tests for important well-known syndromes like Duchenne Muscular Dystrophy and inherited breast and ovarian cancer, in addition to a host of less commonly discussed conditions.

Genetic testing for autistic spectrum disorders

2020 ◽  
pp. 78-79
Author(s):  
Е.А. Померанцева ◽  
А.А. Исаев ◽  
А.П. Есакова ◽  
И.В. Поволоцкая ◽  
Е.В. Денисенкова ◽  
...  
Keyword(s):  
Genetic Testing ◽  
American Academy ◽  
Autistic Spectrum Disorder ◽  
Genetic Factors ◽  
Molecular Genetic ◽  
Autistic Spectrum Disorders ◽  
Autistic Spectrum ◽  
American Academy Of Pediatrics ◽  
Spectrum Disorders ◽  
Testing Algorithm

Согласно рекомендациям Американской академии педиатрии при постановке диагноза аутизм, следует направить семью на консультацию генетика и генетическое обследование. Однако оптимальный подход к алгоритму генетического обследования при выявлении расстройства аутистического спектра еще предстоит разработать. В рамках исследования было проведено сравнение выявляемости генетических факторов аутизма различными молекулярно-генетическими тестами. According to American Academy of Pediatrics recent guidelines, each family with a child diagnosed with autistic spectrum disorder should be reffered to a medical geneticist and offered genetic tests. However, an optimal genetic testing algorithm has yet to be developed. This study was conducted to compare abilities of different molecular-genetic methods to detect genetic factors of autistic spectrum disorders.

scholarly journals Diagnosing Paraproteinemic Keratopathy: A Case Report

2021 ◽  
pp. 337-343
Author(s):  
Eugenie Mok ◽  
Ka Wai Kam ◽  
Anthony J. Aldave ◽  
Alvin L. Young
Keyword(s):  
Optical Coherence Tomography ◽  
Genetic Testing ◽  
Serum Protein ◽  
Molecular Genetic ◽  
Anterior Segment ◽  
Protein Electrophoresis ◽  
Serum Protein Electrophoresis ◽  
Optical Coherence ◽  
Molecular Genetic Testing ◽  
Corneal Opacities

A 65-year-old man presented with bilateral, painless, progressive blurring of vision over 9 years. Slit-lamp examination revealed bilateral subepithelial corneal opacities in clusters located at the mid-periphery. Anterior segment optical coherence tomography, in vivo confocal microscopy (IVCM), serum protein electrophoresis, and molecular genetic testing were performed to evaluate the cause of corneal opacities. Anterior segment optical coherence tomography revealed a band-like, hyperreflective lesion in the Bowman layer and anterior stroma of both corneas. IVCM revealed hyperreflective deposits in the epithelium, anterior stroma, and endothelium. Serum protein electrophoresis identified the presence of paraproteins (immunoglobulin kappa), and molecular genetic testing revealed absence of mutations in the transforming growth factor beta-induced gene (<i>TGFBI</i>) and collagen type XVII alpha 1 gene (<i>COL17A1</i>). The ocular diagnosis of paraproteinemic keratopathy eventually led to a systemic diagnosis of monoclonal gammopathy of undetermined significance by our hematologist/oncologist. Paraproteinemic keratopathy is a rare differential diagnosis in patients with bilateral corneal opacities and therefore may be misdiagnosed as corneal dystrophy or neglected as scars. In patients with bilateral corneal opacities of unknown cause, serological examination, adjunct anterior segment imaging, and molecular genetic testing play a role in establishing the diagnosis.

scholarly journals Serial Observations and Mutational Analysis of an Adoptee with Family History of Hypertrophic Cardiomyopathy

2010 ◽  
Vol 2010 ◽  
pp. 1-4
Author(s):  
Bronwyn Harris ◽  
Jean P. Pfotenhauer ◽  
Cheri A. Silverstein ◽  
Larry W. Markham ◽  
Kim Schafer ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Hypertrophic Cardiomyopathy ◽  
Family History ◽  
Mutational Analysis ◽  
Clinical Findings ◽  
Dominant Mode ◽  
Natural Mother ◽  
History Of ◽  
In Cis ◽  
Inherited Cardiac Disease

Hypertrophic cardiomyopathy (HCM) is an inherited cardiac disease with an autosomal dominant mode of transmission. Comprehensive genetic screening of several genes frequently found mutated in HCM is recommended for first-degree relatives of HCM patients. Genetic testing provides the means to identify those at risk of developing HCM and to institute measures to prevent sudden cardiac death (SCD). Here, we present an adoptee whose natural mother and maternal relatives were known be afflicted with HCM and SCD. The proband was followed closely from age 6 to 17 years, revealing a natural history of the progression of clinical findings associated with HCM. Genetic testing of the proband and her natural mother, who is affected by HCM, revealed that they were heterozygous for both the R719Q and T1513S variants in the cardiac beta-myosin heavy chain (MYH7) gene. The proband's ominous family history indicates that the combination of the R719Q and T1513S variantsin cismay be a “malignant” variant that imparts a poor prognosis in terms of the disease progression and SCD risk.

Sign in / Sign up

Export Citation Format

Share Document