NYMAC
(New York-Mid-Atlantic Consortium for Genetics and Newborn Screening Services)
Current Projects
NYMAC Region
Newborn Screening Projects
Education and Outreach to the Asian Communities
Contracts were awarded to Cornell Weill Medical Center, UMDNJ – Robert Wood Johnson Children’s Hospital and New York Methodist Hospital to establish outreach programs to the Asian communities who are at high risk for alpha and beta thalassemia, as well as for other hemoglobinopathies. There are continued efforts to reach the Chinese population in Manhattan, NY, and expand to identify and reach the Asian-focused community-based organizations in Brooklyn, NY and in Middlesex County in New Jersey.
Champion – Rita Bellevue
NYMAC Staff – Katharine Harris
Maintain and Update Diagnostic Tables
The guidelines were developed to ensure that newborns are correctly diagnosed for conditions in the newborn screening panel. NYMAC will help ensure that newborns receive the correct diagnosis; that the true incidence of rare diseases is known; that newborn screening laboratory cut-off levels are set to maximize the positive predictive value of the test while minimizing the chance that diseased infants will be missed; and that optimal treatment guidelines can be developed. As new conditions are added to the panel, and as new testing algorithms are developed, regular review of the recommendations by the work group will ensure that they continue to be relevant.
Champion – David Kronn
NYMAC Staff – Katharine Harris
Emergency Preparedness for NBS Programs
Continuing efforts will enable the newborn screening programs to develop the tools and systems they need to continue operations in case of an emergency. The newborn screening laboratories will participate in blood-spot specimen exchanges, single day drills, and multi-program exchanges so the processes are familiar and easily implemented.
Champion – Katharine Harris
NYMAC Staff – Katharine Harris
IBEM-IS Participation
Development of the Region 4 Inborn Errors of Metabolism Information System (IBEM-IS) enables clinical metabolic centers to compare a larger body of clinical data and outcomes to develop effective treatment protocols. NYMAC is currently funding Hackensack University Medical Center, University of Buffalo, University of Pittsburgh, and University of Rochester to participate in the IBEM-IS program as a NYMAC pilot to determine the time necessary to enter data and the value obtained from this effort.
*IBEM-IS (Inborn Errors of Metabolism Information System)
Champion – Robert Cicco
NYMAC Staff – Katharine Harris
SCID/Lysosomal Storage Disease Symposium and Lab Practicum
This two-day event will be a collaborative among all the newborn screening programs in our region. Some have implemented one or more of these conditions; others are considering them and determining how to implement. The attendees will share protocols, explore laboratory techniques and technology and examine the issues related to screening and follow-up.
Champion – Beth Vogel
NYMAC Staff – Katharine Harris
Inter-regional CCHD Interest Group
Following the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children’s recommendation to add CCHD to the newborn screening panel, an inter-regional CCHD interest group meets monthly by conference call to share ideas, strategies and progress.
Champions – Lori Garg and Debbie Badawi
NYMAC Staff – Katharine Harris
Transition Projects
Transition Navigator for Youth with Heritable Disorders
Grants were awarded to Nemours Children's Hospital, University of Maryland, and Children’s Center for Cancer and Blood Disorders to employ the services of a Transition Navigator to educate young adults and their parents about self-care and advocacy and to prepare the young adult to transition to an adult medical care provider. They are also working in the local medical community to identify committed adult medical care providers.
Champion – Louis Bartoshesky
NYMAC Staff – Katharine Harris
Education and Consumer Needs
Education and Outreach Initiatives for Consumer and Advocacy Groups Project Contracts
Small grants were awarded to consumer groups and consumer advocacy organizations in the NYMAC region to provide information and assistance to people with genetic conditions identified through the states’ newborn screening programs. These grants will enable the consumer groups to develop educational outreach campaigns, educational material, videos, public service announcements, websites, etc. to broaden the outreach of the organization into their targeted community. Awardees are The CARES Foundation, Genetic Alliance, Hunter’s Hope, Immune Deficiency Foundation, The Sickle Cell Disease Association of New Jersey, and the Sickle Cell Thalassemia Patients Network, Inc. All began 11/1/11 and go through 5/31/12.
Champion – Katharine Harris
NYMAC Staff – Katharine Harris
Education of Childbirth Educators about Newborn Screening
NYMAC was awarded a Newborn Screening Clearinghouse grant from the Genetic Alliance to develop an educational toolkit to be used by nurse midwives, doulas, and other childbirth educators to introduce newborn screening into childbirth education and literature produced for expectant parents. Both the toolkit and evaluation form are now available on the NYMAC website. Educators are currently piloting these materials and will answer a survey about their experience. We will identify other provider populations that might find this toolkit useful and enable their use of it.
Champion – Deborah Rodriguez
NYMAC Staff – Katharine Harris
NYMAC Advocate to Promote Enhanced Healthcare Proxy
Expand on the work of Donna Appell in NYS to bring the concept of enhanced health care proxy to the entire NYMAC region. The goal is to have legislation passed in each state providing for enhanced health care proxy. Educational documents and draft legislative language would be developed. Consumers and consumer groups from each state would be educated on the concept through materials developed.
Champion – Donna Appell
NYMAC Staff – Bonnie Fredrick
Continuation of Emergency Card Project
NYMAC will develop an I-phone/droid application for the Emergency Cards. By incorporating new technologies that teens and young adults use, we anticipate greater uptake in this traditionally hard to reach population. This group, generally, does not wear medical IDs. This replaces the traditional methods of identifying special health needs for emergency personnel at a time when parents might not be present and where the individual may not be in any condition to speak for him or herself. We will also create new cards as new conditions are added to the newborn screening panels. Emergency cards for other chronic and potentially emergent conditions will also be created.
Champion – Deborah Rodriguez
NYMAC Staff – Katharine Harris
Others
Web-Site Project
Update the web site and brand with all publication. Bring all existing articles, tools, resources together in an easy to find, organized manner.
Champion – Bonnie Fredrick
NYMAC Staff – All Staff