2021).Įvery type of genetic test, such as classical cytogenetics, molecular cytogenetics (array comparative genomic hybridization, aCGH, multiplex ligation-dependent probe amplification, MLPA, fluorescent in situ hybridization, FISH), or molecular methods (polymerase chain reaction, PCR, single nucleotide polymorphism, SNP) or genome sequencing with different methods, e.g., next generation sequencing (NGS), require precise laboratory interpretation by specialists in each of these techniques that is of cytogeneticists and/or molecular biologists.
This regards relatives in the same generation and both ascendants and descendants (Zampatti et al. This aspect is one of the elements which differentiate the scope of clinical genetics from the scope of patient care provided by specialists in other fields of medicine, whose medical activity concerns the patient and usually does not allow for identification of the disease/risk of disease in other members of their family. The results of medical genetic tests performed for health purposes, together with a detailed analysis of pedigree and clinical data, form the basis for diagnosis of a disease and for genetic counseling not only for the patient but also for the whole family. In practice, this applies in particular to drugs used in cardiology and psychiatry (Dowd and Krause 2021). Pharmacogenetic tests are also quite commonly used to assess the individual, genetically determined biometabolism of specific drugs or groups of drugs thus to identify those who will optimally respond to given treatment/dose of given drug. Genetic diagnostics is also widely used in oncology, as it allows diagnosis of hereditary cancer syndromes (e.g., breast and/or ovarian cancer), precise diagnosis of the tumor (molecular classification of tumors, e.g., brain gliomas), determining the patient’s susceptibility to targeted treatment (use of optimally acting drugs in patients with a specific mutation in cancer cells predictive tests), and establishing the prognosis of the disease (prognostic tests) (Kilbride and Bradbury 2020 Wang et al. The genetic tests could also be performed on the fetal genetic material as part of prenatal diagnosis, which allows the parents to make an informed decision on continuing, or not, the pregnancy (Oh 2019). The prenatal tests could be carried out on the cells of the embryo as a part of the procedure of in vitro fertilization (pre-implantation diagnosis), which allows an assessment of the genetic alterations of the embryo and enables the parents to make an informed decision whether such an embryo would be implanted into the uterus or not. Such tests are performed both post- and prenatally.
FREEDOME DIRECT PROFESSIONAL
Genetic tests for medical purposes are performed in reference laboratories, subject to quality control both in terms of equipment, correctness of laboratory procedures, and professional qualifications of the staff. Such tests can be used in neonatal screening programs (the test will be applied to the entire population) or selectively to specific families or subgroups of the general population (Remec et al. 2014).Ī separate group involves tests designed to identify heterozygotes in the population, i.e., to identify asymptomatic carriers of mutations causing recessively inherited diseases (people who have one mutated copy of the gene are healthy but can pass this copy of the gene on to their offspring-the disease occurs in those people who have two mutated copies of the gene). Such tests allow for the diagnosis of an existing disease, congenital defects, and/or intellectual disability syndromes and/or diseases that will develop during the patient’s life (e.g., in the case of late-onset diseases such as certain neurodegenerative diseases pre-symptomatic diagnostics) (Zergollern-Ĉupak et al. In such cases, genetic counseling and diagnosis are fully or partially (depending on the scope of medical services guaranteed by the insurer) financed and supervised by the insurance company. Genetic medical tests, performed for health purposes, are offered to patients with diagnosed or suspected genetic diseases.
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