2023 Early Hearing Detection & Intervention Conference
March 5-7, 2023 • Cincinnati, OH
10/24/2016 | 5:30 PM - 6:30 PM | Delivery of Ear Health, Dental, and Genetic Counseling Services to an Indigenous Population with a High Prevalence of Otitis Media Caused by a Duplication Variant in the A2ML1 Gene | BGPOP Building 4A/B/C
Delivery of Ear Health, Dental, and Genetic Counseling Services to an Indigenous Population with a High Prevalence of Otitis Media Caused by a Duplication Variant in the A2ML1 Gene
We identified an indigenous Filipino community that has a ~50% prevalence of otitis media and has poor access to health care, particularly for ear health. Multivariate analyses revealed that carriage of a duplication variant c.2478_2485dupGGCTAAAT (p.(Ser829Trpfs*9)) within the A2ML1 gene. This gene encodes a middle-ear-specific protease inhibitor and confers a four-fold increase in the risk of otitis media in this population.
Other known risk factors for otitis media, such as young age, breastfeeding history, tobacco exposure, or deep swimming were not statistically significant. Microbiome analyses of middle ear swabs revealed a higher relative abundance of taxa such as Fusobacterium and Porphyromonas, which are not frequently identified as middle ear pathogens but are well-known causes of gingivitis and periodontitis.
Based on these findings, teams of otologists, audiologists, dentists, and genetic counselors were brought to the community to deliver basic health services and perform assessment of further needs. Engagement with the community resulted in >90% participation, particularly for otologic and genetic services. This presentation outlines future plans for the community, including advocacy for comprehensive PHiD-CV10 vaccination in order for the population to develop herd immunity against common otitis media pathogens.
- To review the scientific discoveries used as basis for selection of services for delivery to an indigenous population with a high prevalence of otitis media due to a genetic mutation
- To outline the potential impact of services delivered including otologic, audiologic, dental and genetic counseling services
- To further assess community needs that must be addressed in order to lower otitis media prevalence
Presentation:
https://drive.google.com/file/d/0B9VY_QNjTpk5dmMyR3hZTzVPQlNqS2E5UllyYkNsMUdwRUxN/view?usp=drivesdk
Handouts:
Handout is not Available
Transcripts:
CART transcripts are NOT YET available, but will be posted shortly after the conference
Presenters/Authors
Kimberly Mae Ong
(), Philippine General Hospital, kmchuaong@yahoo.com;
Resident in Otorhinolaryngology, University of the Philippines - Philippine General Hospital
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Charlotte Chiong
(), President, Philippine Society of Otolaryngology -Head and Neck Surgery, charlotte_chiong@yahoo.com;
Since 1999 the author started studies on newborn hearing screening (NHS) and published the results of several studies on NHS which formed the basis for the legislation of UNHS in the Philippines in 2009 as RA 9709. In 2013 she obtained a doctorate degree from Radboud University Nijmegen with her dissertation on
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Patrick John Labra
(), Philippine National Ear Institute, patrick.labra@gmail.com;
Residency in Otorhinolaryngology, Philippine General Hospital
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Rachel Marie Nonato
(), Philippine General Hospital, rachelle_099@yahoo.com;
Resident, Otorhinolaryngology, Philippine General Hospital
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Rhodieleen Anne de la Cruz
(), Medicus Medical Center, rhodieleenanne@gmail.com;
Graduated Medicine from the University of the Philippines College of Medicine, 2012
Graduated Otorhinolaryngology Residency Philippine General Hospital, 2016
Consultant, Medicus Medical Center, St. Pauls Hospital, Western Visayas Medical Center
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Melquiadesa Pedro
(), Philippine National Ear Institute, mhel_sec@yahoo.com;
Audiology Technician, Philippine National Ear Institute
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Sheryl Mae Lagrana
(), Philippine National Ear Institute, she.lagrana@gmail.com;
University Research Associate, Philippine National Ear Institute
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Talitha Karisse Yarza
(), Philippine National Ear Institute, talithayarza@up.edu.ph;
Research Associate, Philippine National Ear Institute & Newborn Hearing Screening Reference Center
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Abegail Jayne Amoranto
(), Institute of Human Genetics, ajamoranto@post.up.edu.ph;
Student, MS Genetic Counseling, Institute of Human Genetics
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Ma. Theresa Domine
(), Institute of Human Genetics, tbdomine@post.up.edu.ph;
Student, MS Genetic Counseling, Institute of Human Genetics
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Edbert Jasper Jover
(), Institute of Human Genetics, ejjover@post.up.edu.ph;
Student, MS Genetic Counseling, Institute of Human Genetics
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Aileen Trinidad Santos
(), Private, aileentrinidadsantos@gmail.com;
Doctor of Dentistry, University of the Philippines Manila
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Rachel Ann Santos
(), Private, santosrap@yahoo.com;
Doctor of Dentistry, University of the Philippines Manila
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Rose Anne Rosanes
(), College of Dentistry, University of the Philippines Manila, rgrosanes@up.edu.ph;
Doctor of Dental Medicine, University of the Philippines Manila; Faculty, Community Dentistry, College of Dentistry, University of the Philippines Manila
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Erasmo Gonzalo Llanes
(), Philippine National Ear Institute, erisllanes@yahoo.com;
Associate Professor, Philippine National Ear Institute & Department of Otolaryngology, Philippine General Hospital
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Ma. Leah Tantoco
(), Philippine National Ear Institute, mlct19976@hotmail.com;
Associate Professor, Philippine National Ear Institute & College of Allied Medical Professions, University of the Philippines Manila
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Ma. Rina Reyes-Quintos
(), National Institutes of Health , rinatrq@yahoo.com;
Associate Professor, Philippine National Ear Institute & Department of Otolaryngology, Philippine General Hospital
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Abner Chan
(), Philippine National Ear Institute, abnerchan@yahoo.com;
Professor, Philippine National Ear Institute & Department of Otolaryngology, Philippine General Hospital
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Eva Maria Cutiongco-de la Paz
(), University of the Philippines Manila, eccutiongcodelapaz@up.edu.ph;
Vice Chancellor for Research, University of the Philippines Manila
& Executive Director, National Institutes of Health
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Regie Lyn Santos-Cortez
(), Department of Otolaryngology, University of Colorado School of Medicine, regie.s.cor@gmail.com;
Associate Professor, Department of Otolaryngology, University of Colorado School of Medicine
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