Do I need a genetic test for deafness if I have poor hearing? Why?

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Deafness has always been a common disease that plagues mankind, causing a lot of troubles to society and families, and consuming a lot of manpower and material resources. The World Health Organization estimates that 250 million people worldwide suffer from moderate or above hearing loss. The Second National Sample Survey of Disabled Persons in 2006 estimated that the total number of people with various types of disabilities in the country was 82.96 million, including 20.04 million people with hearing disabilities and 1.27 million people with speech disabilities, accounting for the first place among various disabilities, with 23,000 new students every year. The rate of deaf children is growing.

Does deafness gene testing need to be done if you have poor hearing? Why?

1: People with hearing loss can use genetic testing to help find out the cause (hearing loss caused by genes accounts for 40-60% of all causes in the literature). If the deafness is clearly caused by a gene, the later hearing development can be estimated based on the specific mutated gene.
2: For those with a family history of deafness, deafness gene testing can be used to evaluate the probability of having children again, as well as the probability of deafness in marriage and childbirth of deaf patients.
3: After clear testing to determine the causative gene, reproductive technology can be used to block the continued inheritance of the deafness gene in the family.

Genetic diagnosis of deafness is to detect the patient’s DNA through the techniques of molecular biology and molecular genetics. Specifically, it is currently available through the deafness gene panel. Whole-exome or whole-genome sequencing can detect whether there are deafness gene mutations, thereby making a molecular diagnosis of the cause of deafness, which has good preventive significance for the recurrence of deafness. With the continuous advancement of molecular biology technology and understanding, genetic testing of deafness has increasingly become an important means of disease diagnosis. Current deafness genetic diagnosis technology can diagnose the cause of approximately 60% of patients with hereditary deafness, thereby helping them Provide guidance on marriage and fertility consultation, effectively reducing the birth of deaf children. And with the continuous development of society, genetic counseling for deafness is becoming more and more popular.

So far, my country has combined newborn hearing screening with newborn deafness genetic screening in some areas, and has conducted multiple newborn deafness genetic screenings. check. According to China News Service, as of the end of February this year, 2.6991 million cases of free newborn deafness gene screening have been completed nationwide. It is the world's largest effort to use molecular testing to screen for genetic diseases. The screening found that among nearly 2.7 million tests covering 12 provinces, autonomous regions and municipalities, the proportion of deafness gene mutations was 4.37%, that is, for every 100 Chinese people,About 4-5 people carry the deafness gene.

"Preventing problems before they happen" is better than "making up for them before they happen". With the continuous advancement of science and technology, more and more deafness genes will surface, although hereditary It is difficult to cure deafness, but with the continuous advent of various high-throughput detection technologies, it is believed that the molecular causes can be clarified for more and more deafness patients, eugenics and postnatal care can be achieved, the vertical transmission of hereditary deafness diseases can be reduced, and more people can More people have the opportunity to listen to the beauty of nature.

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