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    Home > Biochemistry News > Biotechnology News > For different situations, how to correctly and reasonably select genetic testing?

    For different situations, how to correctly and reasonably select genetic testing?

    • Last Update: 2020-08-06
    • Source: Internet
    • Author: User
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    Genetic testing currently has two broad-based applications, one for the diagnostic genetic testing of human monogene disease, the second predictive genetic testing, including late-onset single-gene disease detection, complex diseases (hypertension, diabetes, mental illness and tumors, etc.) risk prediction, individual drug guidance, etc.
    the following main applications of genetic testing: 1) diagnostic testing: clinically assisted diagnosis of individual malformations of specific genetic diseases, such as haemophilia, Dushi muscular dystrophy (DMD) (see chart for the diagnostic process), thalassemia and other diseases.
    is mainly used at this time to select the cause of the disease in the affected individual, so accurate detection techniques and professional genetic advice are essential.
    2) Pre-symptom testing: A test for high-risk individuals, families, and high-risk populations of a specific disease, primarily for the purpose of predicting their future health.
    such as the late hair single gene disease Huntington disease, some prevention and treatment of good results of tumors.
    test, although the negative results can eliminate the anxiety of the subject, but the positive results can put a great psychological burden on them, so a professional genetic counseling team to provide them with appropriate explanation and effective preventive treatment.
    the following use Huntington dance disease as an example to illustrate the application of DNA diagnostic techniques in the pre-diagnosis of autosomal dominant hybrids.
    as in the following Huntington Dance Family, I-2 and II-1, II-3 have both become ill and II-1 has died.
    other members have not yet been sick, do they also contain pathogenic mutations? Tests on II-4 and II-5 found that they did not contain pathogenic mutations, while III-2 was confirmed to contain pathogenic mutations.
    for the test results, III-2 will become ill sooner or later, it is recommended to do a good job of prevention as soon as possible.
    3) Carrier screening: the subjects tested are chromosomal recessive and X-chain recessive genetic disease hybrid individuals.
    such as parents who have given birth to a genetic ally, and screening of carriers of the high-risk thalassemia gene in the two regions.
    carriers are screened in part to target a large group, so the cost and price of genetic testing is acceptable, and, due to lack of awareness, genetic carriers sometimes experience discrimination, so detailed genetic counseling is required before and after testing.
    4) Prenatal testing: Genetic testing for the purpose of having healthy babies in families with a particular disease (currently only some of the diseases are clinical).
    includes invasive and non-invasive prenatal diagnosis (available for reference to relevant non-integrated chromosomal abnormality screening knowledge of non-integrated fetal infections in non-comprehensive fetuses).
    such as invasive amniotic cavity punctures, amniotic fluid can detect common chromosomal diseases in the fetus (21-tri-body syndrome, 18-tri-body, 13-tri-body, etc.), monogene diseases such as thalassemia, haemophilia, neuromuscular and metabolic diseases.
    this is a test involving the fate of the fetus, so genetic counseling before and after the test is important.
    5) Drug genetic testing: the same drug, when the genotype is ultra-fast metabolic patients use, the efficacy of the drug is significantly reduced, while in slow metabolism patients, the use of toxic side effects may increase;
    therefore testing some people before receiving medication, instructing doctors to provide appropriate medications and dosages based on their genetic background.
    such as platinum drugs are currently one of the most commonly used tumor chemotherapy drugs in clinical practice, glutathione transthienzyme can promote the excretion of platinum drugs and thus reduce the toxic effects of anti-cancer drugs, therefore, different gournathylytine metastase genotype population on the toxic side effects of platinum drugs, genetic testing can effectively guide the drug.
    drug genetic testing is a very promising aspect of personalized medicine.
    6) Pre-implantation testing: targeted at early-development embryos and used to detect important, high-risk diseases (e.g. Marfan syndrome, haemophilia, Du's muscular dystrophy, etc.).
    because this test is targeted at a single cell, the testing technique is very demanding.
    also need genetic counseling to help avoid some ethical risks.
    Source: Decoding Medicine.
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