Why genetic diagnosis of genetic diseases?

  Why do genetic diagnosis of genetic diseases and can I do without it?  Simply put, to have a genetic diagnosis is to understand the genetic code of a disease. Because some fertilized eggs (germplasm) or mothers are affected by the environment or genetics, the genome of the next generation has been altered in a harmful way and a (physical) disease has arisen, which needs to be confirmed by genetic diagnosis and genetic analysis in the laboratory in order to prevent and solve it in a targeted way.  Another major significance of genetic diagnosis is the prediction of the next generation, selection of the next generation, and eugenics.  Some genetic diseases have specific treatment and some are temporarily untreatable, but as human beings continue to research, more and more genetic diseases will have targeted treatment, enriching the relationship between these genes and clinical manifestations, clinical diagnosis, and clinical treatment, precisely the process of human beings’ deep understanding of the human body itself, and we are able to work around the disease.  Since many genetic diseases we can not treat for the time being, what is the point of doing this diagnosis, it is better not to know, it is okay not to do it? Of course it is possible not to do it. This technology is still in a period of rapid development, a lot of data is still lacking, researchers and clinicians do not yet have a wealth of experience, some results are interpreted with errors, but if there is no continuous accumulation, where there is a variety of data improvement and progress, with the accumulation of these step by step, human understanding of their own will become richer and richer, people more and more healthy and happy.  Besides, how exactly can genetic diagnosis of genetic diseases be rationally applied to clinical practice? We say that genetic diagnosis is also a test, just like PET-CT, which may or may not detect abnormalities, or detect other abnormalities, or detect a clinical phenotype different from the original expectation, or expect the probability of developing a certain disease in the future, but the disease does not occur in the future, and many other uncertainties. We should be objective about those results and not be frightened.  Since genetic diagnosis of genetic diseases has just started, it still needs a long-term, extensive and more involved practical test. Therefore, we would like to thank those patients who have contributed all the information about their conditions as well as money to the treasure house of medical knowledge; your dedication is the basis for the development of medicine.  At the same time, doctors are also working very hard to learn all kinds of medical knowledge, spending a lot of time and energy to learn a lot of new knowledge in various disciplines, you see, I have to learn basic medicine such as genetics, molecular biology; learn various knowledge of various clinical specialties, such as pediatric endocrinology, geriatric endocrinology, gynecological endocrinology, gynecological reproductive medicine, male science, rheumatology, outside of work hours. …… I feel that my head is bombarded with all kinds of new knowledge every day, lack of time to sleep, instantly in sleep, the mind is still thinking about this disease, this patient, this subject, these learning and progress, only in return for the trust and cooperation of our patients.