If genome sequencing is performed in health care, in theory the opportunity arises to take a further look at the data: opportunistic genomic screening (OGS). The European Society of Human Genetics (ESHG) in 2013 recommended that genome analysis should be restricted to the original health problem at least for the time being. Other organizations have argued that 'actionable' genetic variants should or could be reported (including American College of Medical Genetics and Genomics, French Society of Predictive and Personalized Medicine, Genomics England). They argue that the opportunity should be used to routinely and systematically look for secondary findings-so-called opportunistic screening. From a normative perspective, the distinguishing characteristic of screening is not so much its context (whether public health or health care), but the lack of an indication for having this specific test or investigation in those to whom screening is offered. Screening entails a more precarious benefits-to-risks balance. The ESHG continues to recommend a cautious approach to opportunistic screening. Proportionality and autonomy must be guaranteed, and in collectively funded health-care systems the potential benefits must be balanced against health care expenditures. With regard to genome sequencing in pediatrics, ESHG argues that it is premature to look for later-onset conditions in children. Counseling should be offered and informed consent is and should be a central ethical norm. Depending on developing evidence on penetrance, actionability, and available resources, OGS pilots may be justified to generate data for a future, informed, comparative analysis of OGS and its main alternatives, such as cascade testing.

• MeSH
• Genetic Testing ethics   standards   MeSH
• Human Genetics ethics   organization & administration   standards   MeSH
• Humans MeSH
• Practice Guidelines as Topic * MeSH
• Societies, Medical standards   MeSH
• Check Tag
• Humans MeSH
• Publication type
• Journal Article MeSH
• Research Support, Non-U.S. Gov't MeSH
• Geographicals
• Europe MeSH

Two leading European professional societies, the European Society of Human Genetics and the European Society for Human Reproduction and Embryology, have worked together since 2004 to evaluate the impact of fast research advances at the interface of assisted reproduction and genetics, including their application into clinical practice. In September 2016, the expert panel met for the third time. The topics discussed highlighted important issues covering the impacts of expanded carrier screening, direct-to-consumer genetic testing, voiding of the presumed anonymity of gamete donors by advanced genetic testing, advances in the research of genetic causes underlying male and female infertility, utilisation of massively parallel sequencing in preimplantation genetic testing and non-invasive prenatal screening, mitochondrial replacement in human oocytes, and additionally, issues related to cross-generational epigenetic inheritance following IVF and germline genome editing. The resulting paper represents a consensus of both professional societies involved.

• Keywords
• Assisted reproductive technology, Epigenetics, Expanded carrier screening, Female infertility, Gamete donor anonymity, Germline genome editing, Male infertility, Mitochondrial replacement therapy, Non-invasive prenatal testing, Preimplantation genetic testing,
• MeSH
• Reproductive Techniques, Assisted * MeSH
• Genetic Testing methods   MeSH
• Congresses as Topic MeSH
• Genetics, Medical methods   MeSH
• Humans MeSH
• Check Tag
• Humans MeSH
• Publication type
• Journal Article MeSH
• Research Support, Non-U.S. Gov't MeSH
• Review MeSH

Rapid development of clinical genetics was enabled by the advances of molecular genetic laboratory diagnostics. Genetic laboratory testing has unique characteristics, and results of germinal genome testing has consequences not only for the patient but also for his relatives. Genetic laboratory testing in the Czech Republic is governed by the act no. 373/2011, which explicitly states that the testing requires the completion of a written informed consent. This article explains in detail the process of obtaining an informed consent within a broader framework of genetic counselling. An informed consent with genetic laboratory testing not only informs the patient (this being its primary purpose), but can also serve as a lead for physicians of other clinical specialties intending to order genetic laboratory tests.

• Keywords
• clinical genetics, genetic counselling, genetic laboratory testing, informed consent,
• MeSH
• Genetic Counseling * MeSH
• Genetic Testing * MeSH
• Informed Consent * MeSH
• Humans MeSH
• Check Tag
• Humans MeSH
• Publication type
• Journal Article MeSH
• Geographicals
• Czech Republic MeSH

It is generally assumed that genetic research of mycobacteria is delayed as compared with other, more commonly used, bacterial models, particularly in the field of genetic transfers. In the field of mutagenesis the problems have been studied to such an extent that replication maps of the chromosome of M. phlei and M. tuberculosis H37 Rv have already been constructed and a new model of the cell cycle of bacteria exhibiting a slow growth rate has been worked out. When the problems of mycobacterial genetics are looked upon in the light of gene manipulations it may be concluded that mycobacteria belong to a few models whose genes are used for cloning and that problems of practical significance will be studied by means of the most modern approaches.

• MeSH
• Genetics, Microbial * MeSH
• Mycobacterium genetics   MeSH
• Publication type
• Journal Article MeSH
• Review MeSH

Microalgae have traditionally been used in many biotechnological applications, where each new application required a different species or strain expressing the required properties; the challenge therefore is to isolate or develop, characterize and optimize species or strains that can express more than one specific property. In agriculture, breeding of natural variants has been successfully used for centuries to improve production traits in many existing plant and animal species. With the discovery of the concepts of classical genetics, these new ideas have been extensively used in selective breeding. However, many biotechnologically relevant algae do not possess the sexual characteristics required for traditional breeding/crossing, although they can be modified by chemical and physical mutagens. The resulting mutants are not considered as genetically modified organisms (GMOs) and their cultivation is therefore not limited by legislation. On the other hand, mutants prepared by random or specific insertion of foreign DNA are considered to be GMOs. This review will compare the effects of two genetic approaches on model algal species and will summarize their advantages in basic research. Furthermore, we will discuss the potential of mutagenesis to improve microalgae as a biotechnological resource, to accelerate the process from specific strain isolation to growth optimization, and discuss the production of new products. Finally, we will explore the potential of algae in synthetic biology.

• Keywords
• Biotechnology, Genetics, Microalgae, Mutagenesis, Reverse genetics, Synthetic biology,
• MeSH
• Biotechnology methods   MeSH
• Microalgae genetics   MeSH
• Mutagenesis MeSH
• Reverse Genetics MeSH
• Synthetic Biology methods   MeSH
• Publication type
• Journal Article MeSH
• Research Support, Non-U.S. Gov't MeSH
• Review MeSH

OBJECTIVES: Schizophrenia is a severe psychiatric disease affecting about 1% of the general population. The relative contribution of genetic factors has been estimated to be up to 80%. The mode of inheritance is complex, non-Mendelian, and in most cases involving the combined action of large numbers of genes. METHODS: This review summarises recent efforts to identify genetic variants associated with schizophrenia detected, e.g., through genome-wide association studies, studies on copy-number variants or next-generation sequencing. RESULTS: A large, new body of evidence on genetics of schizophrenia has accumulated over recent years. Many new robustly associated genetic loci have been detected. Furthermore, there is consensus that at least a dozen microdeletions and microduplications contribute to the disease. Genetic overlap between schizophrenia, other psychiatric disorders, and neurodevelopmental syndromes raised new questions regarding the current classification of psychiatric and neurodevelopmental diseases. CONCLUSIONS: Future studies will address especially the functional characterisation of genetic variants. This will hopefully open the doors to our understanding of the pathophysiology of schizophrenia and other related diseases. Complementary, integrated systems biology approaches to genomics, transcriptomics, proteomics and metabolomics may also play crucial roles in enabling a precision medicine approach to the treatment of individual patients.

• Keywords
• Genetics, genetic, genome, polygenic, psychiatry, psychosis, schizophrenia, sequencing,
• MeSH
• Consensus * MeSH
• Humans MeSH
• Schizophrenia genetics   MeSH
• Check Tag
• Humans MeSH
• Publication type
• Journal Article MeSH
• Review MeSH

• MeSH
• Committee Membership MeSH
• History, 20th Century MeSH
• History, 21st Century MeSH
• Genetic Counseling organization & administration   MeSH
• Genetic Testing methods   MeSH
• Professional Staff Committees history   organization & administration   MeSH
• Genetics, Medical history   MeSH
• Humans MeSH
• Workforce MeSH
• Specialty Boards history   organization & administration   MeSH
• Societies, Scientific history   organization & administration   MeSH
• Check Tag
• History, 20th Century MeSH
• History, 21st Century MeSH
• Humans MeSH
• Publication type
• Journal Article MeSH
• Historical Article MeSH
• Research Support, Non-U.S. Gov't MeSH
• Geographicals
• Europe MeSH

By the end of 60s a team of scientists has started at Medical Faculty of Olomouc the research of micromycetes pathogenic for both the humans and animals. In this study, the appropriate results are summarized as concerned with the genetics of dermatophytes. Among these results, those significant in deeper assessing the biology of dermatophytes and etiopathogenesis of dermatophytoses have been selected. In our opinion, they may be of interest for the successors in the direction mentioned. Here are also formulated certain open problems and the applicative outputs are traced, for example, those concerning with vaccines. The approaches used, even unusual in the medical mycology from a traditional scope, are believed to prove the convenience of genetic methods when researching mycopathogens. We regret to miss at the edition of this publication the late founder of the team, RNDr. Nora Hejtmánková, CSc. which had the greatest contribution to the Chapters on the karyology and variability of dermatophytes as well as to the hybridization analysis of Trichophyton mentagrophytes complex.

• MeSH
• Arthrodermataceae cytology   genetics   physiology   MeSH
• Genetic Variation MeSH
• Mutation MeSH
• Reproduction MeSH
• Virulence MeSH
• Life Change Events MeSH
• Publication type
• Journal Article MeSH
• Review MeSH

Psychiatric genetics is a popular and much-discussed topic. Many candidate genes have been investigated in relation to psychiatric disorders and many connections have been found. The utilization of these investigations is currently at a theoretical level. Nevertheless, these findings of candidate genes will be important for further research and subsequent clinical use, for example in pharmacogenetics). Due to the rapidly growing number of empirical studies that provide profound analysis of different genes and their variants in different psychiatrical symptomatology, the field is highly divided, and providing a succinct overview is challenging. This article attempts to provide an up-to-date review of the most important and most discussed genes (mainly transporter and receptor genes) contributing to the etiology of psychiatric disorders.

• MeSH
• Genetics, Behavioral trends   MeSH
• Mental Disorders genetics   MeSH
• Genetic Predisposition to Disease * MeSH
• Humans MeSH
• Brain Chemistry genetics   MeSH
• Psychiatry trends   MeSH
• Check Tag
• Humans MeSH
• Publication type
• Journal Article MeSH
• Review MeSH

• MeSH
• Fermentation * MeSH
• Congresses as Topic * MeSH
• Genetics, Microbial * MeSH
• Microbiology * MeSH
• Publication type
• Journal Article MeSH
• Geographicals
• Czechoslovakia MeSH