NGS Technology Brings Hope for Diagnosis and Treatments Against Hearing Loss

TAIPEI, TAIWAN, May.31, 2022 - Hearing is one of the most important abilities for learning languages and communicating. In the United States, about 1 in 500 infants are born with or develop hearing loss during early childhood, and about 60 percent are caused by genetics. In the past, 70% of children with congenital hearing loss couldn’t find the causes of hearing loss. With the advancement of Next-generation sequencing technologies and associated bioinformatics tools, early detection of hearing loss in newborns is able to intervene to promote language development.


To reflect the situation of the genetic testing for physicians to understand the causes of the condition and diagnosis, the American College of Medical Genetics and Genomics developed a guideline that not only includes medical geneticists but also experts in otolaryngology, genetic testing, genetic counseling since 2014. It also represented hearing loss researchers and incorporated findings from the published scientific literature.


Recently, the organization has updated its practice guideline for evaluating advances in NGS-based genetic tests for causes of hearing loss in the journal Genetics in Medicine in May 2022.


The latest guidelines suggest that newborns and infants with hearing loss should engage in a comprehensive assessment that encompasses patient and family medical histories, a three-generation pedigree, and a physical examination. Depending on those assessments, they recommend different genetic testing strategies. Only 30% of genetic hearing loss is syndromic, others are nonsyndromic, and more than 400 genetic syndromes include hearing loss as a feature.


The physicians would suggest single-gene testing, panel testing, or other approaches, depending on the clinical findings. At the same time, the treatment should be conducted in a linguistically and culturally sensitive manner. Additional testing for CT scans and MRIs could also complement genetic testing. The recommendations further noted that people for whom no underlying cause is found should undergo follow-up testing or examination every three years.


Image by tung256 from Pixabay


On the Europe side, another international team led by investigators in Sweden, the UK, and the Netherlands also focused on hearing loss causing has identified four dozen variants linked to hearing loss — a risk variant set highlighting the importance of a stria vascularis structure in the ear's cochlear duct wall.


This finding has been published in the American Journal of Human Genetics earlier this month, which included almost 723,300 adult individuals of European descent with or without clinical diagnosis or self-reported hearing loss from 17 prior hearing loss genome-wide association analysis. The researchers focused on 48 hearing loss associated genes which concluded 10 new genes.


This research is among the largest conducted in hearing genetics and helps to refine the fundamental basis of hearing loss. The results provide a valuable resource for selecting genes for further validation on developing targets for new genetic testing panels, drug development, and clinical approaches.


Genetics research definitely opens a new chapter to unlock hearing loss causes, diagnosis and treatment. Despite no single treatment or intervention can suit every patient or family, as more hearing loss associated genes have been discovered, the more potential we can have for more precise and accurate treatment for hearing loss.



References:

[1] Hearing Loss GWAS Meta-Analysis Highlights Cochlear Structure Role in Hearing Impairment


[2] ACMG Issues Updated Practice Guidelines for Hearing Loss Evaluations




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