Genome wide testing and significant single-gene variants
That is the most complete congenital genetic testing. Humans have more than 20,000 pairs of genes. Using next-generation sequencing or the latest third-generation sequencing, all genetic changes can be completely listed at once through blood sampling. The advantage is that it is complete, the subsequent use of genetic data is of high value, and the cost is relatively low.
In addition, the analysis of whole gene detection can be divided into single gene and polygene analysis. Single-gene analysis is to list, analyze and explain the most important pathogenic genes among all congenital gene variations. In general, single-gene variants have a greater impact, especially congenital anomalies, which are often rare diseases. However, adult diseases are often caused by the combined effects of many genetic mutations, and acquired factors are also added. When conditions are sufficient, the disease will occur. Such diseases have a wide range of impacts and are important, including cancer, diabetes or dementia. . The above-mentioned polygenic combination effect can be calculated using the data of whole gene sequencing and predict the risk of suffering from a specific disease in the future. the
Taking the above acquired cancer mutations as an example, in fact, some cells have acquired mutations every day, but there is a group of genes in human cells that are specifically responsible for repairing these mutations and returning them to normal. However, some people have congenital genetic mutations in these genes, making it difficult to repair these acquired mutations, making them more susceptible to cancer. Therefore, checking for these congenital genetic abnormalities can help you know in advance whether you are susceptible to cancer.
In addition, as far as cancer is concerned, the genetic abnormalities in some cancer cells may come from congenital mutations or acquired mutations. For example, Angelina Jolie’s BRCA1 breast cancer gene falls into this category. In other words, there is overlap between the genetic classification of congenital gene mutations or acquired mutations in tumors. For this type of gene, testing can be done by blood drawing or tumor biopsy, depending on which method is more effective.
For disease prevention, we would recommend using a full gene test to list all gene variations at once, see all your congenital disease constitution, and use single-multigene analysis, so that you can fully understand the acquired factors that need to be paid attention to and avoided. The acquired factors are then adjusted so that the chance of future disease is significantly reduced. This is the whole gene precision preventive medicine.