The IOM has called for the CTSAs to expand research on children. The CTSI and the California Department of Public Health have a common vision of improving the health of children through newborn screening programs for genetic disorders. California has been a pioneer in developing new approaches to diagnosis, education, and treatment of disorders detected in the newborn period. Currently, several million newborns in California are screened for 21 genetic disorders each year.
Overall, screening disorders are identified in 1 of every 500 births. The data indicate hereditary disease expression is strongly affected by ethnicity/race. In California, there are 16 separate racial/ethnic groups at disproportional risk for specific genetic disorders. For instance, 1 in every 80 Southeast Asians has a screening disorder. Asian East Indians have the highest prevalence of endocrine disorders, Native Americans have a disproportional prevalence of cystic fibrosis, and metabolic disorders are highest in the Middle Eastern population.
Systematic problems, magnified by the diverse cultural and economic factors affecting the target population, impair the ability of the California State Newborn Screening Program to optimally reach its public health goals. These goals include appropriate evaluation, performance monitoring, and access from birth through young adulthood to specialized treatment for all persons affected by screening disorders. Furthermore, significant numbers of families with affected newborns currently lack an informed provider in a medical home, do not have access to the latest therapy, and/or are not able to obtain counseling.
The goal of this proposal is to form an innovative partnership between the California Department of Public Health’s Genetic Disease Screening Program (CDPH BDSP) and the CTSI. The decision makers at the CDPH BDSP are “on board” and eager to have an opportunity to develop these ideas in a planning period. Likely CTSI partners include the Comparative Effectiveness Large Dataset Analysis Core (CELDAC), the CTSI Community Engagement Program, CTSI Clinical Research Services, and the Children’s Hospital & Research Center Oakland, which runs the state screening program for hemoglobinpathies and has worked with the state screening program for many years. Other UCs are also potential partners.
This partnership will have several objectives:
(1) Improve medical homes through provider education— The initiative will foster an active network of medical home physicians, and will develop provider education programs focusing on standard of care practice guidelines for each disorder, leading to better quality of care and improved guideline compliance.
(2) Develop a patient registry-- In collaboration with the medical homes, the initiative will develop an active registry of patients identified in the newborn screening program. These patients will receive educational services through multimedia approaches and have access to clinical trials.
(3) Improve the infrastructure to conduct translational research-- The provider network and patient registry will provide a platform for conducting longitudinal studies for rare diseases, development of biomarkers, and a biologic bank for research, and will greatly facilitate access to patients and data for the development of new therapies.
Strategically combining resources of the CTSI and the CDPH BDSP will open up new and unprecedented research avenues from T1-T4. California is uniquely positioned to utilize its screening registry for translational research purposes. We believe that a small planning grant will allow us to develop these ideas into a compelling project that would greatly strengthen the CTSI renewal and would ultimately serve as a model for other states.
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