2024 Early Hearing Detection & Intervention Conference
March 17-19, 2024 • Denver, CO
| Are We There Yet? Lessons Learned from a Hearing Loss –Genetics Needs Assessment
Are We There Yet? Lessons Learned from a Hearing Loss –Genetics Needs Assessment
The Importance of genetics assessment for hearing loss (HL) is well documented. The New York Mid-Atlantic Consortium for Genetics and Newborn Screening Services (NYMAC), a Health Resources and Services Administration funded regional collaborative, in collaboration with NCHAM, initiated a HL needs assessment in its region to ascertain the unmet needs regarding genetics in the system of HL screening, diagnosis, and referral. The NYMAC region includes the District of Columbia, Delaware, Maryland, New Jersey, New York, Pennsylvania, Virginia, and West Virginia. A HL- Genetics research survey, modeled on the 2005 and 2012 NCHAM surveys, was developed following a literature review and discussions with the NYMAC region EHDI coordinators and LEND faculty. The Johns Hopkins and Utah State University Institutional Review Boards approved the paper and online versions of this survey. Both versions were distributed to the pediatricians, family medicine physicians, nurse practitioners, and physician assistants in the NYMAC region. Preliminary findings suggest that ~80% of the respondents did not know about the EHDI (1-3-6) goals before receiving this survey. Majority respondents practiced in large metropolitan areas (~37%) and in private settings (~55%). 47 % of respondents indicated they were uninformed about HL genetics, 55% were not confident about the genetics causes of HL, ~44% never consulted genetics professionals, ~41% did not refer families to genetics, and ~37% were not confident about genetic referral importance. About 40% of the respondents cited family history as the primary reason for genetics referral. Strategies to facilitate tracking of genetics referral included: systems to follow-up with families (~93% respondents), increased genetics education of providers (~92%), systems to follow-up with providers (~87%), and inclusion of case managers in the EHDI programs (~79%). We anticipate that this information will be helpful in streamlining genetics education and referral for hearing loss to benefit families and providers.
- Identify unmet needs of children, families, and professionals regarding genetics in hearing loss screening, diagnosis, and referral.
- Relate the application of the hearing loss-genetics survey findings to the enhancement of comprehensive EHDI programs.
- Develop strategies to improve communication and coordination of referral services, including genetics, in the framework of EHDI programs.
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Presenters/Authors
Kunal Sanghavi
(Point of Contact,Co-Presenter,Author), McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, ksangha1@jhmi.edu;
Kunal Sanghavi is the genetics research program specialist at the Johns Hopkins University and the New York Mid-Atlantic Consortium for Genetics and Newborn Screening Services (NYMAC). He received his Masters in Genetic Counseling from the Boston University. Kunal developed and conducted different genetic education workshops within the US and at international locations. His research interests include improving genetics service delivery using innovative approaches and distance strategies.
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Karl White
(Author), Utah State University, karl.white@usu.edu;
Dr. White is a Professor of Psychology, the Emma Eccles Jones Endowed Chair in Early Childhood Education, and the founding Director of the National Center for Hearing Assessment and Management. He has been the PI or Co-PI for over $50 million of competitively awarded research. His work has been recognized with awards from such diverse organizations as the Deafness Research Foundation, the American Association for Speech Language and Hearing, The Swedish Society of Medicine, and the Alexander Graham Bell Association for the Deaf. He has hundreds of publications and presentations at scholarly meetings, and has been an invited speaker to more than 35 countries. He also serves on many national and international advisory groups for organizations such as the United States Department of Health and Human Services, the World Health Organization, the Institute of Medicine, and the American Academy of Pediatrics.
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Tyson Barrett
(Author), Utah State University, t.barrett@aggiemail.usu.edu;
I am a PhD student in Social Epidemiology. My passion is turning data into clear, actionable insight, especially when this insight helps improve lives, health, and well-being. Currently, I am a research assistant at the National Center for Hearing Assessment and Management, helping as a Social Science Statistician with the various, ongoing quantitative projects. I am also a Statistics Consultant at the university.
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Amanda Wylie
(Author), NYMAC - RTI International, awylie@rti.org;
Amanda Wylie is one of the two NYMAC evaluation consultants. Amanda is also a part of the RTI International Fragile X Research Team.
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Melissa Raspa
(Author), NYMAC - RTI International, mraspa@rti.org;
Melissa Raspa is one of the two NYMAC evaluation consultants. Melissa is also a part of the RTI International Fragile X Research Team.
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Beth Vogel
(Author), Wadsworth Center, New York State Department of Health, beth.vogel@health.ny.gov;
Beth Vogel is the program manager of the New York Mid-Atlantic Consortium for Genetics and Newborn Screening Services (NYMAC). She also serves as a Newborn Screening Follow-Up Services Supervisor at the David Axelrod Institute-Wadsworth Center, Department of Health, New York.
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Michele Caggana
(Author), Wadsworth Center, New York State Department of Health, michele.caggana@health.ny.gov;
Michele Caggana is the Director of Newborn Screening Program, Deputy Director of the Division of Genetics, and the Head of the Genetic Testing Quality Assurance Program at the Wadsworth Center, New York State Department of Health. Michele also co-directs the New York Mid-Atlantic Consortium for Genetics and Newborn Screening Services (NYMAC).
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Joann Bodurtha
(Author), Johns Hopkins University, jbodurt1@jhmi.edu;
Dr. Joann Bodurtha is a Professor of Pediatrics and Oncology at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine. Dr. Bodurtha co-directs NYMAC. Dr. Bodurtha’s career goals are to help make genetics work to help people, improve health and well-being in families, and assist communities to be more welcoming to all people.
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