In the past two years, with the advancement of gene sequencing technology, the cost of high-throughput second-generation gene sequencing or even whole-exome sequencing has dropped dramatically, making high-throughput individual genetic screening possible, and domestic genetic testing companies have sprung up like a mushroom. For some single-gene diseases, such as peroneal muscular dystrophy, the clinical phenotype and electrophysiological examination are similar, but there are dozens of causative genes, and now dozens of genes can be detected simultaneously by specialized gene chips; for limb-girdle dystrophy, hundreds of types can be screened by specially developed myopathy chips; and there are many diseases that can be detected by specialized genes. Everything sounds so beautiful, people long for the day when they can see a doctor: only a small amount of blood blood, and then through genetic testing can be diagnosed, no longer such a tedious procedure as now. This is a beautiful picture, but I would say that genetic testing alone is not a substitute for a doctor’s visit and other ancillary tests. There are several reasons for this: (1) many diseases are caused by a combination of environmental and genetic factors; (2) many diseases are polygenic and genetic testing has no target; (3) current high-throughput microarray assays are deficient in detecting mutations in intronic regions, dynamic mutations, and copy number variants; (4) there are false positives and false negatives due to methodology; (5) genetic heterogeneity (5) the existence of genetic heterogeneity, even if the mutation is not necessarily pathogenic, there are also factors such as epistasis regulation; (6) high-throughput genetic testing may get multiple abnormal genes, are they all disease-causing genes?