Genetics and genomic medicine around the world
نویسندگان
چکیده
As we unveil our first issue of 2014, we would like to announce the launch of a new feature of Molecular Genetics and Genomic Medicine: “Genetics and Genomic Medicine around the World.” These articles will focus on various aspects of genetics and genomic medicine internationally. Trends in different countries will be described by a senior colleague from that country. In 1988, the Journal of Medical Genetics launched a similar series entitled “Medical Genetics around the World” (Harper 1988). The purpose of the series was to highlight the delivery of genetic services in various countries. As noted by Dr. Harper, “the state of medical genetics is critically dependent on the surroundings in which it is placed, reflecting not just the economic and medical development of a country, but its social attitudes and the organization of medical services.” According to Dr. Harper, the “joy of being an editor [for the Journal of Medical Genetics] was the freedom to develop and write about anything that was interesting to [him], and with the idea to make things as international as possible,” he decided to develop this series (personal communication, December 2013). Over a period of 6 years, five articles overviewing medical genetics in China (Hui-Yuan 1988), Hong Kong (Chau et al. 1990), Hungary (Czeizel 1988), Israel (Goodman et al. 1989), and South Africa (Jenkins 1990) were published. Each article included a brief history of medical genetics in that country. Additional content varied from article to article, but included information on laboratory testing, prenatal diagnosis, genetic counseling, and training in medical genetics. The series also included articles on recessive disorders in Arabs (Teebi 1994), gene mapping in Finland (de la Chapelle 1993), and molecular diagnosis in Russia and the former USSR (Baranov 1993). Genetics in Medicine initiated a series in 2001 entitled “Human Genetics around the World” with the intention to inform medical genetics practice: “While operating in environments that are politically and culturally different, we all can learn from each other’s experiences” (Francke 2001). This series focused on genetics societies in Great Britain (Haites 2002), Greece (Tsenghi and Tzeli-Kitsiou 2001), and Portugal (Saraiva et al. 2001), as well as an article focusing on genetic discrimination in Australia (Otlowski et al. 2002). Given that two other journals have attempted a similar series, why establish this feature in Molecular Genetics and Genomic Medicine now? First, more than ever, medical genetics is a global practice. Samples are sent to laboratories around the world for diagnostic testing. The Genetic Testing Registry (http://www.ncbi.nlm.nih.gov/gtr/) currently includes laboratories from 39 countries. Understanding clinical practice in one country may lead to altered practice in another country. This may be especially important in working with immigrant populations and understanding their views on genetics and genomics (Buseh et al. 2013). Second, genetics continues to be a rapidly changing field in which we are now learning to interpret much larger amounts of data from next-generation sequencing. Besides the bioinformatics challenge of big data, the ethical debate on which next-generation incidental results to return to patients has left many leaders in our field on opposite sides of the fence (Burke et al. 2013). As we are coming to grips with secondary findings in developed countries, there is uncharted territory in many areas of the globe such as sub-Saharan Africa, which may not have the medical infrastructure to evaluate incidental findings. We believe that this series will be an invaluable
منابع مشابه
Achieving Effective Treatment Goals against New Coronavirus (SARS-CoV-2) by Identifying the Molecular Details of the Virus Genome
Introduction: We are currently faced with a global epidemic of a new coronavirus (SARS-CoV-2) that It affects not only thousands of people in China, but all over the world. The rapid increase in cases appears to be related to the active genome of the virus, which may affect its pathogenesis. An understanding of the novel coronavirus genomic organization will help us in understanding their origi...
متن کاملInvestigation of IL-17Agene Polymorphism (Rs2275913) with Infertility in Southern Iranian Women
Introduction: Estimates show that about 3-7% of all couples or women around the world have an unsolved infertility problem. Interleukin-17 (IL-17) is a pro inflammatory cytokine involved in the expression of many inflammatory mediators. The aim of this study was to investigate the relationship between (rs2275913G/A) IL-17A gene polymorphism with infertility in women. Methods: This case-control...
متن کاملA Comparison of the Sensitivity of the BayesC and Genomic Best Linear Unbiased Prediction(GBLUP) Methods of Estimating Genomic Breeding Values under Different Quantitative Trait Locus(QTL) Model Assumptions
The objective of this study was to compare the accuracy of estimating and predicting breeding values using two diverse approaches, GBLUP and BayesC, using simulated data under different quantitative trait locus(QTL) effect distributions. Data were simulated with three different distributions for the QTL effect which were uniform, normal and gamma (1.66, 0.4). The number of QTL was assumed to be...
متن کاملNovel Insights to Celiac Disease: A review article
Celiac disease is a chronic, systemic and autoimmune disorder of gastrointestinal track that involves approximately 1% of individuals of all ages throughout the world. The collaboration of environmental factor such as gluten proteins and genetic factors, notably HLA-DQ2 and/or HLA-DQ8 trigger the disease. Gluten-free diet is the simply and merely safe and proficient existing treatment. This art...
متن کاملGamma reactivation using the spongy effect of KLF1-binding site sequence: an approach in gene therapy for beta-thalassemia
Objective(s): β-thalassemia is one of the most common genetic disorders in the world. As one of the promising treatment strategies, fetal hemoglobin (Hb F) can be induced. The present study was an attempt to reactivate the γ-globin gene by introducing a gene construct containing KLF1 binding sites to the K562 cell line. Materials and Methods: A plasmid containing a 192 bp sequence with two repe...
متن کامل