15th ANNUAL EARLY HEARING DETECTION & INTERVENTION MEETING
March 13-15, 2016 • San Diego, CA
| - | 8 - EHDI Workforce Issues
Hearing Loss Needs Assessment – Where Does Genetics Fit?
Hearing loss (HL) affects 2-3/1,000 newborns. Early identification of HL and early intervention (EI) are critical to speech/language development in children and their families. Over 100 genes are associated with hearing impairment1. ~50% of infants with nonsyndromic HL have identifiable gene changes in connexin 26 and/or 30 (GJB2/GJB6). Children and families can benefit from timely HL genetic testing 1. The New York Mid-Atlantic Consortium for Genetics and Newborn Screening Services (NYMAC), a Health Resources and Services Administration funded regional collaborative, 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. NYMAC has collaborated with EHDI coordinators, EI programs, AAP-EHDI Chapter Champions, and LEND*-audiology program in the NYMAC region to integrate existing data, approaches, and resources in the HL needs assessment. A matrix of key HL data and feedback from the collaborators on HL genetics referral and communication was developed. Preliminary findings indicate that few programs communicate the availability of genetics referrals to families, providers, and other stakeholders and few programs utilize existing genetic educational materials. EHDI coordinators identified timeliness and access to genetic services, documentation and tracking genetics referrals, and data sharing with EI programs as other areas of HL unmet needs. NYMAC’s collaborative analyses of the needs and strategic options focused on the integration of genetics information and referral in the HL system are intended to help in partnering and addressing workforce issues in streamlining referral processes. We anticipate that this information will be helpful to states wishing to enhance HL services.
1. Schimmenti LA et al. (2004) Genetic testing as part of the EHDI process. Genet Med.6(6):521-5
*-Leadership Education in Neurodevelopmental and Related Disabilities
- Identify unmet needs of children, families, and professionals regarding genetics in hearing loss screening, diagnosis, and referral
- Apply constructive strategies to improve communication and coordination of referral services, including genetics, among EDHI, EIP, patients and their providers
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Presenters/Authors
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Kunal Sanghavi
(Primary Presenter,Author,POC), McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, ksangha1@jhmi.edu;
Kunal Sanghavi is the genetics research program specialist and patient/family project coordinator 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.
ASHA DISCLOSURE:
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No relevant financial relationship exist.
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No relevant nonfinancial relationship exist.
Donna Cashman
(Author), SUNY Albany, School of Public Health, CPHCE, dmcashman05@yahoo.com;
Donna Cashman is a public health consultant and nurse planner at the SUNY Albany School of Public Health. She is a clinical research associate at the Syracuse University. Donna chairs the public health workgroup at the New York Mid-Atlantic Consortium for Genetics and Newborn Screening Services (NYMAC), a HRSA funded regional collaborative.
ASHA DISCLOSURE:
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No relevant financial relationship exist.
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No relevant nonfinancial relationship exist.
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), McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, 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.
ASHA DISCLOSURE:
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No relevant financial relationship exist.
Nonfinancial -
No relevant nonfinancial relationship exist.