Medical Home and Transitioning Workgroup
Newborn screening programs often struggle to track individuals and coordinate care. Coordination of care can be especially difficult because of the varying availability of specialists (e.g., geneticists and other pediatric subspecialists, genetic counselors, and nutritionists) and generalists who are able to participate in often complex care. The overarching goal of this project is to improve the process of newborn screening by developing innovative approaches to strengthen the linkages between newborn screening programs, families, and child health care providers and to increase the number of child health care providers that can provide a "medical home" for those diagnosed with a disorder.
The Hemoglobinopathies Workgroup was established to focus attention on the special health care needs of those suffering from Sickle Cell Disease and related disorders. A primary focus of this workgroup is on the care of individuals as they "transition" from childhood into adulthood. The transition of children with special health-care needs is an emerging problem resulting from the marked improvement in the survival of children with chronic illnesses due to improved pediatric health care.
Due to improvements in medical care and advances in technology, children with heritable disorders are now reaching adulthood and giving birth to their own children. Unfortunately, the health care field has failed to grow with them and bridge their transition to adult health care, ultimately failing to deliver appropriate and necessary follow-up care.
The Transitioning Workgroup was formed out of the recognition of the importance of continuity of care during the transition from pediatric to adult health care. Its aim is to educate patients and professionals to ensure current and accurate knowledge about regional genetic services and to improve the quality of health of those with heritable disorders as they transition from childhood into adulthood.
Alex Kemper, MD (Co-chair)
Jim Eckman, MD (Co-chair)
Ify Osunkwo, MD
Sickle Cell Information Center - The mission of this site is to provide sickle cell patient and professional education, news, research updates and world wide sickle cell resources.
Introducing the NBS Connect patient registry!
NBS Connect http://nbsconnect.org has been designed as a resource for those affected by certain disorders included in the newborn screening (NBS) panel. Extensive development of the registry will occur via a phased approach. The registry was launched with NBS-PKU Connect for Phenylketonuria, then NBS-MSUD Connect for Maple Syrup Urine Disease. The next phase is now available with. NBS-TYR Connect for Tyrosinemia. Expansion of the registry will continue to include other disorders in the recommended uniform screening panel (RUSP), endorsed by the American College of Medical Genetics (ACMG)
We encourage patients affected with PKU, MSUD and Tyrosinemia to visit the website at www.nbsconnect.org , register and complete their participant profiles. Participants will have access to disorder specific education materials, information on the latest research and clinical trials, recipes, interactive health tracking systems, “Ask an Expert” tools and more. We hope you will take advantage of the resources provided which will empower you to make more informed healthcare decisions.
This registry will be an asset both for forming connections between consumers and for building a qualitative database for future research.
If you have any questions, please email the project manager Yetsa Osara at firstname.lastname@example.org.