Gene detection technology is called the revolution in the field of experimental diagnosis. With the widespread use of high-throughput sequencing, genome-wide chip scanning and other genetic testing methods, technological advancement has promoted a huge change in medical models, genetic testing, a new diagnostic technology. In the field, the role of disease diagnosis, prognosis, risk assessment and treatment effect monitoring is becoming more and more important.
As a large-scale third-party medical testing institution in China, Golden Field Testing has established 31 laboratories in Hong Kong and mainland China. The Golden Field Clinical Genome Testing Center is based on individualized medical treatment of cancer, diagnosis of hereditary diseases, and clinical diagnosis and treatment of prenatal and postnatal care. core.
Recently, the reporter interviewed the registered clinical geneticist of the American Society of Medical Genetics, the chief scientist of the Golden Field Test and the medical director of the Clinical Genome Testing Center with questions such as "How to do a good molecular diagnosis? How to achieve health and benefit the people?" Dr. Yu Shihui.
Hello, Dr.! You have extensive experience in the research and application of genetic diagnosis. Please tell us about the current genetic diagnosis in the clinical use of cancer, what are the issues that need attention?
Yu Shihui: Recently, I feel that when it comes to genetic diagnosis, some people mistakenly think that they are talking about gene sequencing . Our commonly used karyotyping, fluorescence in situ hybridization (FISH), including the now popular NGS are common techniques for genetic diagnosis. I think that a combination of multiple technologies is needed to get accurate results. Even the emergence of new technologies will not be a versatile means. For example, in the World Health Organization's published guidelines for leukemia and lymphoma (diagnosis), it is clear that any type of leukemia and lymphoma cannot be genetically tested using a single technique. The emergence of NGS does provide a new way for gene and genome detection, providing a wealth of information on the discovery of new site mutations, with important clinical significance. Although it is so important, it cannot replace other detection techniques. As the responsible medical institution, Jinyu will design different testing plans according to the specific conditions of different diseases. Keep the patient's expenses to a minimum while achieving the highest detection rate. Here I would like to emphasize that the third-party inspection agency must take into account the patient's ability to withstand and the ability of the doctor to interpret the results, and grasp the balance between the two.
Nowadays, one of the more successful aspects of precision medicine , which is hotly discussed by all parties, is the precise treatment of cancer, targeted drug therapy. What is targeted drug therapy? It is a precise drug treatment based on genetic mutations. Since the application of the targeted drug imatinib, more and more targeted drugs have been developed and put into clinical use. Therefore, the treatment of precision drugs will continue, but for the disease, in addition to the precise treatment of drugs, we should also pay attention to accurate diagnosis and prognosis.
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