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The Brave New World of Genomics
Published in Carlos Simón, Carmen Rubio, Handbook of Genetic Diagnostic Technologies in Reproductive Medicine, 2022
Sandra García Herrero, Blanca Simon Frances, Cristian Perez-Garcia, Javier Garcia-Planells
In order to safely progress on this journey through the brave new world of genomics, it is imperative to overcome some challenges, for which it is necessary to be comprehensively trained and to become an expert in the field. It is crucial that the clinical data obtained through this diagnostic process is supervised and approved by a clinician-scientist or physician specialized in genetic diseases to ultimately provide an ethically and clinically appropriate recommendation within the context of the disease and the treatment resources available for that particular disease.
Basic genetics and patterns of inheritance
Published in Hung N. Winn, Frank A. Chervenak, Roberto Romero, Clinical Maternal-Fetal Medicine Online, 2021
With the isolation of disease genes and an increasingly better understanding of the molecular genetic bases for many disorders, it has become feasible to consider treatments and potentially cures for genetic disease (41).
Genetic testing for personalised medicine and limitations of the current medical practise in public health
Published in Ben Y.F. Fong, Martin C.S. Wong, The Routledge Handbook of Public Health and the Community, 2021
Besides, genetic testing allows prediction the likelihood of a person to develop certain diseases. Individuals may experience discrimination if the information is exposed. Also, people with inherited genetic diseases are likely to increase the cost of insurance companies, which then translates into a liability of the profit margin. Will insurance companies increase the medical premium for people who are found to have certain genetic defects, making them more vulnerable to ill health? Will insurance companies formulate policies that might restrict medical coverage of individuals more prone to develop a medical condition? Will a company hire an employee based on certain genetic requirements? All of these issues have to be discussed and a consensus should be reached among various stakeholders, including health care professionals, policy makers, patients and insurance companies.
Self-reported effects of perceived social support on marital quality in balanced translocation patients and their spouses undergoing preimplantation genetic testing in China: actor–partner interdependence model
Published in Journal of Obstetrics and Gynaecology, 2022
Fengyi Mo, Xiaorui Hu, Qing Ma, Li Zhang, Lanfeng Xing
Chromosomal abnormalities, one of the most frequent causes of genetic diseases (Mierla et al. 2015), are defined as a genetic disease caused by abnormalities in the number, morphology or structure of chromosomes, often resulting in miscarriage, congenital mental retardation, mental retardation and multiple malformations (Chen et al. 2020). The most frequent chromosomal abnormalities are balanced chromosomal rearrangement, sex chromosomal mosaicism and inversion. The rate of a chromosomal anomaly in the general population is 0.37–1.86%; however, the rate in patients with a history of adverse pregnancy is 3.95–14.3% (Liu et al. 2013). Chromosomal abnormalities cannot be treated medically since they are irreversible (Chen et al. 2020). Balanced translocation is a situation in which both breakage and reconnection of chromosomes occur at abnormal positions, including both Robertsonian and reciprocal translocations. Approximately, 0.5–5% of couples with reproductive problems carry a balanced translocation (Munné et al. 2000; Findikli et al. 2003). However, at present, the specific mechanisms underlying balanced translocation remain unclear (Chen et al. 2020).
Gene editing technology: Towards precision medicine in inherited retinal diseases
Published in Seminars in Ophthalmology, 2021
Brian G. Ballios, Eric A. Pierce, Rachel M. Huckfeldt
Genome editing strategies are anticipated to have a growing therapeutic impact on IRDs and medicine more generally. In the last several years, the world has seen a proliferation in clinical application of gene editing technologies, including currently approved trials or applications in enhancements of chimeric antigen receptor (CAR) T-cell efficacy, sickle cell and beta-thalassemia treatments, and inherited retinal disorders. The 2020 Nobel Prize in Chemistry was awarded to Emmanuelle Charpentier and Jennifer Doudna for their work on pioneering CRISPR-Cas9 gene editing technology. This particular technology has revolutionized the field of genome engineering since its introduction and has rekindled an interest in the development of precision gene therapies targeting human genetic diseases.
Systemic investigations into the molecular features of bilateral breast cancer for diagnostic purposes
Published in Expert Review of Molecular Diagnostics, 2020
Evgeny N. Imyanitov, Ekatherina Sh. Kuligina
Taken together, the available evidences explain only a fraction of biBC incidence [21]. For example, a substantial portion of biBC patients with overt signs of disease predisposition, e.g. early-onset biBC, remain unexplained by available genetic tests. Exome sequencing studies failed to identify novel BC-predisposing genes, whose contribution in the disease incidence would be comparable with the one for BRCA1 and BRCA2. The available gene-seeking studies mainly rely on the dominant mechanism of transmission of hereditary susceptibility to BC, which is characteristic for all known BC-predisposing genes and for the majority of cancer syndromes. However, most non-cancer genetic diseases and some rare cancer syndromes are transmitted via a recessive mechanism of inheritance. In this scenario, cancer develops due to biallelic alteration of the involved gene, while parents of the affected patients usually carry a heterozygous pathogenic variant and remain healthy. It is logical to expect that the appearance of two BCs in the same individual, especially in young age, is a nonrandom event. The hypothesis on the recessive inheritance of pathogenic variants in biBC patients negative for known BC-predisposing mutations provides a plausible explanation for this missing heritability [22,23]. The exome sequencing of germline DNA from biBC patients has the potential for identifying high-penetrance recessive alleles, which predispose to BC development while being present in both copies of the involved gene [23].