NYMAC
(New York-Mid-Atlantic Consortium for Genetics and Newborn Screening Services)
NYMAC Region
Workgroup 2 Activities
Objective: Articulate a regional coordinating plan to address the maldistribution of genetic and newborn screening services and expertise across the region.
Activity 1: Surveying Down Syndrome (DS) and PKU Treatment Centers (RE: Crossing State Lines)
Purpose: To identify the number of children seen at these specialty care centers and the types of services obtained at those centers
A survey was created and emailed/mailed to the known Down syndrome and PKU treatment centers in the region. Response to the survey was poor and a new strategy was devised. (See Activity 4)
Activity 2: Surveying DS/PKU Parent and Advocacy Groups (RE: Crossing State Lines)
Purpose: To identify barriers to care from the consumer/lay advocate perspective.
Down syndrome and PKU parent and advocacy groups in the region were contacted by phone and asked about access to local services, barriers to care, and distances traveled to obtain appropriate services. A summary was prepared that identified common barriers and shared with work group. Identified common barriers. A new project was developed to address these barriers and propose solutions. Project completed.
Activity 3: Evaluation of genetic counseling services at Sickle Cell Treatment Centers
Purpose: To identify how, and by whom, patients are receiving genetic counseling at the regional sickle cell centers.
The Sickle Cell Disease Association of America was working on a separate process to validate criteria for hemoglobinopathy counseling. Our attempts at creating and distributing a survey were tabled.
Activity 4: Mapping of Genetics Services Needs and Providers
Purpose: To identify the number and location of children in need of particular specialty services and the providers of the services. Visualization of the data may assist us in identifying gaps in service.
Regional state health departments were contacted for a list of children identified with PKU, congenital hypothyroidism and hemoglobinopathies. A list of treatment providers was also collected. Data is being mapped.
For more information pertaining to this Work Group and its activities, please contact the Coordinator.