https://i126.fastpic.org/big/2025/1111/2e/d3b0b8d30543d8a31b90debb2277c82e.avif
Pasquale Babiloni | 2022 | ISBN: 1682518671 | English | 320 pages | True PDF | 12 MB
Recently, there have been many research developments in the field of genomics, comprising mainly the ongoing transition from traditional 'monogenic genetics' towards comprehensive testing of the human genome by integrating massively parallel sequencing (MPS; or synonym 'next generation sequencing') approaches, together with advanced bioinformatics. Most diseases involve complex interactions of the involved genes, in addition to environmental stimuli. It is possible that a healthy-born individual runs a high risk of acquiring a deadly disease. This is known as genetic predisposition or susceptibility. Even though genetically predisposed individuals may lead a healthy lifestyle, they have an inherent risk of contracting a disease, independent of environmental factor, unless the risk factors are properly addressed. Advancement in genetic research and testing have aided our understanding and helped us in mapping the disease at the molecular level through genetic associations. Currently, it is possible to elucidate the entire single nucleotide-(SNV), copy number-(CNV) and structural variation (SV) of the human genome, i.e., beyond the original medical indication for which a patient (together with his or her family) was referred for genetic testing. These technological advances are being reflected in expanded carrier screening (ECS), voiding of gamete donor anonymity, preimplantation genetic testing (PGT) and non-invasive prenatal testing (NIPT), and in our understanding of the underlying causes of male and female infertility. Likewise, issues related to mitochondrial replacement in human oocytes and to cross-generational epigenetic inheritance or germline genome editing (GGE) technologies are gradually creating paradigm shifts in the field of assisted reproductive technology (ART).
Therefore, the book mainly focused on the aforementioned selected topics, which are currently being or are likely to be introduced into clinical practice. It also needs to be acknowledged that there is a blurred boundary between research and its clinical application. Medical and legal liability issues may also arise if the roles and responsibilities of different actors at different stages of translation of research results are not clearly established. Genetic counselling has become increasingly important for patients with various disorders associated with infertility and for future parents to make informed reproductive choices. Genomic technology is now being utilized globally in a wide range of contexts to provide diagnostic, prognostic and treatment information for patients in a way that is predicted to transform healthcare. Genetic testing is currently used in a range of hospital settings, including the diagnosis of rare disease in paediatrics, prenatal care, ophthalmology, dermatology, ENT, etc. Such testing will continue to be used in these settings. However, as genetic testing (single genes) shifts to genomic testing (many genes) and the ability to test becomes faster and cheaper, a key change that will occur is a dramatic increase in the amount of information generated. Genomic technology is now being utilized in more settings across society than ever before, including medicine, population health screening, recreational consumerism (ancestry testing, nutritional testing), through to policing and crime prevention. Focusing on the underlying principles of modern genetic analysis, this book deals with 'how' and 'why' of the essential analytical tools needed.
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