Why is deafness genetic diagnosis and deafness genetic counseling necessary?

Deafness is one of the most common sensory disorders in humans, with a high incidence rate. About 60% of sensorineural hearing loss in infants and young children is caused by genetic factors. Through genetic diagnosis and genetic counseling, the cause of deafness can be analyzed for patients and their families, so as to achieve early detection, early intervention, and early treatment of deafness. Further genetic counseling can also enable these families to avoid the risk of giving birth to deaf children again and have healthy children. Therefore, it is very meaningful and necessary to carry out genetic diagnosis and genetic counseling among the deaf population.

Genetic diagnosis of deafness

Genetic diagnosis of deafness is to test the patient's DNA through molecular biology and molecular genetics. Specifically, it is currently possible to detect whether there is a deafness gene mutation through deafness gene panel, whole exome or whole genome sequencing, so as to make a molecular diagnosis of the cause of deafness, which has a good preventive significance for the recurrence of deafness. With the continuous advancement of molecular biology technology and knowledge, genetic testing for deafness is becoming an increasingly important means of disease diagnosis. The current deafness gene diagnosis technology can make a cause diagnosis for about 60% of patients with hereditary deafness, thereby helping them guide marriage and fertility counseling, and effectively reduce the birth of deaf children.

It is far from enough to simply obtain the results of the deafness gene test. The test results must be explained scientifically and systematically to the patient, family members and/or treating physicians in order to maximize the clinical significance of the deafness gene diagnosis. Therefore, genetic counseling and deafness gene diagnosis are an inseparable whole.

Genetic counseling for deafness

Genetic counseling for deafness is provided by clinicians and geneticists with knowledge of genetics to answer questions raised by patients with hereditary deafness and their families regarding the cause, inheritance, diagnosis, treatment and prevention of hereditary deafness, assess the risk of recurrent deafness in the patients' children, and provide recommendations and guidance for reference by the patients and their relatives.

The significance of genetic counseling for deafness is to alleviate the physical and mental suffering of patients, reduce the psychological pressure of patients and their relatives, help them correctly treat hereditary deafness, understand the incidence rate, and take correct prevention and treatment measures, thereby ultimately reducing the incidence rate of hereditary deafness in the population and reducing the chance of passing on deafness genes to offspring.

When the following situations exist, appropriate deafness gene diagnosis and genetic counseling are required.

1. A normal couple gave birth to a deaf child and asked those who are at risk of recurrence. After clarifying the cause of the deaf child in their family through genetic diagnosis, further pre-implantation diagnosis or prenatal diagnosis of the fetus in the mother's womb, and pre-birth guidance can be performed to prevent such families from giving birth to deaf children again.

2. Those who have a family history of deafness and are worried that their offspring will suffer from this genetic disease

3. Unmarried or married couples who are both deaf-mute or one of them is deaf-mute and need pre-marital guidance or post-marital fertility guidance

4. Since the deafness gene has a certain carrier rate among people with normal hearing, normal people who have marriage or childbearing requirements but have no family history of deafness can also undergo screening for common deafness genes.

"Prevention is better than cure" is better than "mending the fold after the horse has bolted". With the continuous advancement of science and technology, more and more deafness genes will surface. Although it is difficult to cure hereditary deafness, with the continuous emergence of various high-throughput detection technologies, I believe that we can identify the molecular causes for more and more deaf patients, achieve eugenics, reduce the vertical transmission of hereditary deafness, and give more people the opportunity to listen to the wonderful sounds of the world.

Source: Gene Valley