Dedicated Public Health Genetics professional with high level experience in newborn screening program development, implementation and evaluation.
As a manager with the Newborn Screening Section (NBS), I am responsible for overall NBS program planning, implementation, monitoring and quality assurance. I establish section priorities and plans including decisions regarding program design, structure, staffing and budget.
· I oversee implementation, monitoring and evaluation of all program components including specimen collection, handling and tracking, result reporting, and clinical follow-up both for short term diagnosis and long term review.
· I provide leadership in the planning and implementation of NBS Program expansion to include additional disorders added to the Federal Recommended Uniform Screening Panel (RUSP).
· I review and update policies, protocols and procedures to maintain consistency and compliance with professional organization requirements and state/federal guidelines, regulations and standards. I recommend and apply changes in NBS regulations as new legislation is implemented.
· I development a scope of work (SOW) and review qualifications of partners for of contracted work. I ensure proper technical assistance for successful SOW implementation is provided by NBS Section staff.
· Participate in the development, maintenance, and operations of our Screening Information System (SIS) database application. SIS is a web newborn screening database used by program stakeholders including lab staff, follow-up staff and clinical specialists.
· I oversee the development, review and distribution of education materials regarding Newborn Screening. This includes an introductory pamphlet for families about NBS, family information sheets for a positive screening result and action and fact sheets for primary care providers.
· I manage the multidisciplinary NBS Section staff including direct supervision of higher-level staff.
My primary role was as lead liaison for the NBS Special Care Center (SCC) Vendor Agreements. This involved working with the special care centers in using our SIS NBS database to provide diagnostic and treatment information for cases referred to them through screening. In addition, they provide annual summaries of children diagnosed with a condition detected through Newborn Screening.
· I worked with other liaisons to develop a scope of work for the SCC that provided continuity but addressed needs of each specialist group.
· I worked with program evaluation staff and the division IT consultant to develop short and long term reporting tools for the SCC in the SIS system.
· I provided technical assistance, training and support for the SCC in the use of our SIS system.
· I developed reports to monitor SCC compliance with the SOW and to simplify invoicing.
I continued my work monitoring the daily monitoring of NBS processes and added work with midwives and metabolic centers.
§ I was responsible for registering new midwives clinicians who wanted to provide newborn screening including setting up their profile in the SIS computer system and providing detailed information and education about the NBS program including collection protocols, follow up procedures and the billing process.
§ I worked with staff at GDL and the CCS Metabolic Centers to ensure the timely and accurate reporting of phenylalanine monitoring results for PKU patients. This included making sure that all diagnosed cases got entered in the registry and that they were referred to the appropriate clinic.
§ . I was responsible for the maintenance and updating of the MPKU registry and the provision of information regarding Maternal PKU Syndrome to women diagnosed with PKU of reproductive age.
§ Participated in Maternal PKU camps and conferences that provided information about dietary control, genetics, decision making and self-esteem to young women at risk for maternal PKU
As a Genetic Disease Program Specialist I, my primary role was as NBS Monitor. I was responsible for reviewing the daily flow of NBS data to insure the timely and accurate reporting of test results by our regional NAPS labs and immediate action by our regional follow-up staff at our Area Service Centers (ASC).
§ I worked with NAPS lab supervisors and staff to ensure compliance with contract requirements related to data entry and reporting of interesting cases in SIS
§ I was responsible for the daily review of results from the laboratories for consistency in interpretation and follow-up recommendations.
§ I worked with our regional follow-up staff at our ASC staff to monitor the flow of interesting cases that are called out to them and seeing that they are resolved in a timely and appropriate manner.
§ I provided technical assistance and support to ASC staff in the use of SIS to monitor case load.
§ I was responsible the preparation of basic program summary reports such as number of tests per collection facility and presumptive positive rate.
I worked with the mailing vendor to ensure compliance with contract requirements regarding the timely creation and mailing of results for the newborn screening test.
Completed four semesters of classwork and passed comprehensive exams in genetics.
Completed four clinical interneships in Genetic Counseling.
Adrenoleukodystrophy Newborn Screening in California Since
2016: Programmatic Outcomes and Follow-Up
Matteson et al.
International Journal of Neonatal Screening April 2021 (7,22)
The First Year Experience of Newborn Screening for Pompe Disease in California
Tang et al
International Journal of Neonatal Screening February 2020 (6,1)
Newborn Screening for Severe Combined Immunodeficiency and T-cell
Lymphopenia in California, 2010–2017
Amatuni et al.
PEDIATRICS Volume 143, number 2, February 2019:e20182300
Genomic sequencing in cystic fibrosis newborn screening: what works best, two-tier predefined CFTR mutation panels or second-tier CFTR panel followed by third-tier sequencing?
Currier et al.
Genetics in Medicine 19(10) · May 2017 , 1159–1163
Overview of the First Eight Years of Newborn Screening for Cystic Fibrosis: The California Experience
Presentation at APHL Newborn Screening and Genetic Testing Symposium
St. Louis, MO March 2016
Newborn Screening for Cystic Fibrosis in California
Kharrazi et al.
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