China
Africa
Explore chapters and articles related to this topic
Carrier Screening for Single-Gene Disorders
Published in Carlos Simón, Carmen Rubio, Handbook of Genetic Diagnostic Technologies in Reproductive Medicine, 2022
Julio Martin, Arantxa Hervas, Ana Bover, Laura Santa, Ana Cervero
The goal of CS is to provide individuals with meaningful information with which to consider their range of reproductive options, based on their personal values [6]. Historically, pre-conception CS has been recommended only for a handful of mutations targeting specific populations known to have high frequencies of these disorders. The diseases most frequently screened for were cystic fibrosis, hemoglobinopathies, conditions associated with Ashkenazi ethnicity, spinal muscular atrophy, and, in women, fragile X syndrome [7]. The list of recommended disorders to be included in CS tests is taken from the guidelines of the professional societies whose criteria are based on condition severity, race or ethnicity, prevalence, carrier frequency, detection rates, and RR. However, there is now a tendency toward the development of pan-ethnic genetic tests in consonance with current multiracial societies. Indeed, some authors believe that, with the tools and techniques available today, genetic analyses should test as many variants as possible [8]. Traditional and ethnicity-based tests were thought to have a higher mutation detection rate and be more cost effective, but they have proved unsuitable for patients of mixed or unknown ethnic background [8,9].
The application of new technologies to improve literacy among the general public and to promote informed decisions in genomics
Published in Ulrik Kihlbom, Mats G. Hansson, Silke Schicktanz, Ethical, Social and Psychological Impacts of Genomic Risk Communication, 2020
Serena Oliveri, Renato Mainetti, Ilaria Cutica, Alessandra Gorini, Gabriella Pravettoni
When considering genetic testing for establishing the risk of a specific disease, we are talking about searching for genes/mutations that are not able, on their own, to determine the disease: in other words, the genetic analysis shows only a general susceptibility to getting sick. The so-called multifactorial diseases are caused by the expression of more than one gene and their onset also depends on a particular interaction between genes and the environment.
Familial Aggregation of Chronic Obstructive Pulmonary Disease
Published in Stephen D. Litwin, Genetic Determinants of Pulmonary Disease, 2020
Bernice H. Cohen, Gary A. Chase
When many genetic loci are involved (i.e., with multigenic inheritance) the degree of familial aggregation of a disease would vary directly with the coefficient of relationship to the index case, if the various loci follow simple patterns with additive and equal contributions. However, the overall pattern is altered if there is some dominance; and the complexity increases where there are multiple environmental as well as genetic factors. Current genetic analysis is limited in its ability to resolve situations of this degree of complexity. A useful approach, however, is to examine the frequency of the condition in relatives having different degrees of relationship to the index case, and compare the above frequency with a control series in which appropriate adjustments have been made for age, sex, race, age at onset, and other pertinent factors.
The three horizons model applied to medical science
Published in Postgraduate Medicine, 2022
Juan M. Roman-Belmonte, Hortensia De la Corte-Rodriguez, E. Carlos Rodriguez-Merchan, Aranzazu Vazquez-Sasot, Beatriz A. Rodriguez-Damiani, Cristina Resino-Luís, Francisco Sanchez-Laguna
Advances in genetic studies support PM. As the costs of performing genetic studies decrease, genetic analyses will probably be incorporated into the routine tools used in clinical practice. The possibility of deep phenotyping will open the door to a better understanding of the pathogenic mechanisms of various diseases and medical conditions [60]. However, there are still limitations to be resolved in adequately interpreting genomic sequences. The presence of mutations or mosaicism must be considered [61], and it should be remembered that there is no direct correlation between genetic variants and consequences. The same mutation can generate different phenotypes, or even not produce a phenotypic change [62]. A single pathological variant in a single gene can generate a disease, which occurs in a broader context such as the genome of an individual, with all its normal or compensatory variants of regulation and expression [63].
Clinical entities, phenotypes, causation, and endotypes based on selected asthma publications
Published in Baylor University Medical Center Proceedings, 2020
Gilbert Berdine, Robert Alexander, Kenneth Nugent
Studies on the pathogenesis of asthma present multiple problems. Table 2 provides examples of possible approaches to studying the pathogenic basis for asthma syndromes.15–19 Some of these methods require complex biochemical analyses, and some require biopsy specimens that are invasive and potentially dangerous, especially in patients with severe asthma. Studies using exhaled breath condensates provide an opportunity to characterize chemical compounds originating either in the airways or alveolar spaces. These collections can be easily repeated in all patients and do not require invasive procedures. Studies on the natural history of asthma require well-characterized subgroups and prolonged follow-up. Studies on responses to drug therapy have two potential advantages. They provide immediate information about the benefit of drugs at least in certain subgroups. In addition, the mechanism of action may provide insight into the underlying pathogenesis of asthma. Drug studies that include a genetic analysis of the participants have the potential to provide information about the underlying genotype leading to the development of asthma or the genotype associated with a response to a particular drug.
The genomic ancestry of Jat Sikh population from Northwest India inferred from 15 autosomal STR markers using capillary electrophoresis
Published in Annals of Human Biology, 2020
Sonia Kakkar, Pankaj Shrivastava, Shatrughan Prasad Mandal, Kiran Preet, Ramkishan Kumawat, Gyaneshwer Chaubey
A large number of studies based on population diversity have been reported from different populations around the world, but reports from Indian populations on genetic diversity at STR loci are still relatively scarce. This makes their potential use limited in various sorts of genetic analyses. Baseline data on genetic markers are warranted for evolutionary studies, origin studies, sorting out issues like immigration disputes, lineage disputes, and for forensic purposes. The present study explores the genetic portrait of the Jat Sikh population of Punjab, India, on 15 highly polymorphic autosomal microsatellite markers, including 13 core forensic loci. The distribution of alleles in the studied population is compared with previously published data on the same markers from different geographical areas of India (caste specific available information).