NEW YORK (Reuters Health) - By first performing genetic testing for abnormalities in GJB2 (gap junction beta-2 gene), clinicians may be able to avoid costly radiological imaging studies in some children with idiopathic sensorineural hearing loss (SNHL), according to a new study by researchers at Cincinnati Children’s Hospital in Ohio.
Moreover, “genetic testing can not only determine the cause of the hearing loss, but can help determine how a child’s hearing will progress as the child ages,” Dr. John H. Greinwald, Jr., maintains in a press statement.
Currently, many clinicians order simultaneous laboratory, imaging and genetic mutation testing, Dr.Greinwald and colleagues point out in their report, published in the December issue of Otolaryngology Head and Neck Surgery. They theorized that a sequential testing paradigm would be more cost effective and less stressful for families.
Their retrospective study included 650 children with SNHL of unknown etiology tested at their medical center between 1993 and 2002.
Results showed that 474 patients underwent 2676 laboratory tests. Only two patients had abnormal findings that determined SNHL etiology.
A total of 616 underwent high-resolution computed tomography of the temporal bone, MRI or both. Results revealed abnormalities in 27.4%.
GJB2 testing, available beginning in 2001, was conducted for 161 patients, revealing biallelic mutations in 29 (18.0%) that accounted for their SNHL. Tests were positive for 17 of 45 (37.8%) with bilateral severe to profound SNHL versus 1 in 20 (5%) of those with moderately severe loss and 11 of 71 (15.5%) with mild to moderate loss. None of those with unilateral or purely high-frequency hearing loss had positive GJB2 test results.
Only one of those with GJB2 mutations also had a positive imaging test.
As a result of their findings, Dr. Greinwald’s group now recommends that genetic testing be performed first if case history, physical examination and audiologic workup fail to reveal the cause of bilateral hearing loss. Only if genetic testing is negative is imaging prescribed.
Neither lab testing nor mutation screening is required for unilateral loss; however, in such cases, imaging is recommended.
They estimate that their algorithm could save approximately $20,000 in imaging costs and $34,000 in lab costs per 100 children.
Source: Otolaryngol Head Neck Surg 2004;131:804-809. [ Google search on this article ]
MeSH Headings:Behavioral Sciences: Community Health Services: Costs and Cost Analysis: Data Collection: Diagnosis: Diagnostic Services: Behavioral Disciplines and Activities: Economics: Health Care Economics and Organizations: Environment and Public Health: Epidemiologic Methods: Health Care Facilities, Manpower, and Services: Genetic Screening: Health: Health Occupations: Health Services: Health Services Administration: Health Surveys: Information Science: Mass Screening: Medicine: Investigative Techniques: Population Characteristics: Preventive Health Services: Preventive Medicine: Public Health: Quality of Health Care: Social Sciences: Specialties, Medical: Public Health Practice: Health Care Quality, Access, and Evaluation: Health Care Evaluation Mechanisms: Diagnostic Techniques and Procedures: Analytical, Diagnostic and Therapeutic Techniques and Equipment: Anthropology, Education, Sociology and Social Phenomena: Biological Sciences: Health Care: Information Science: Psychiatry and PsychologyCopyright © 2002 Reuters Limited. All rights reserved. Republication or redistribution of Reuters content, including by framing or similar means, is expressly prohibited without the prior written consent of Reuters. Reuters shall not be liable for any errors or delays in the content, or for any actions taken in reliance thereon. Reuters and the Reuters sphere logo are registered trademarks and trademarks of the Reuters group of companies around the world.
