State newborn screening programs are in the midst of a significant expansion due to the recent diffusion of a new screening technology, tandem mass spectrometry. In this context, a dramatic increase in the number of disorders being screened is already creating challenges for the healthcare system in terms of communication with families, and the organization and delivery of healthcare services for infants during the process of evaluating initial positive newborn screening results. Currently, there exists a fundamental gap in our understanding of the factors that influence parental understanding during this evaluation process and the impact this understanding may have on related outcomes (e.g., parental anxiety, increased healthcare utilization). The proposed project aims to explore and examine the experiences and preferences regarding communication about positive newborn screening results of key stakeholders (parents, primary care physicians, clinical geneticists, and state newborn screening officials) involved in the three key stages: notification about the initial positive screen;follow-up testing and evaluation;and parental notification of the final results of the evaluation. The project will be conducted in Michigan and North Carolina, two states with expanded newborn screening. The project will culminate in the development of a cogent implementation plan for the organization and delivery of healthcare services within this evaluation period of positive newborn screening results. Career development activities during these phases of research will include formal training in qualitative research methods, advanced survey methodology, and policy analysis, along with guidance and direction from a panel of dedicated and experienced mentors. By the end of the proposed research project, the candidate will be an expert in the organization and delivery of healthcare services to infants with initial positive newborn screening results and will submit an investigator-initiated grant application to evaluate the implementation plan developed for the delivery of these services. Due to the recent, and continued, increase in the number of disorders tested on newborn screening panels, a greater understanding of the organization and delivery of healthcare services to infants with initial positive newborn screening results is an essential step towards provision of high quality services within state newborn screening programs.

National Institute of Health (NIH)
Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)
Mentored Patient-Oriented Research Career Development Award (K23)
Project #
Application #
Study Section
Special Emphasis Panel (ZHD1-DSR-M (HB))
Program Officer
Urv, Tiina K
Project Start
Project End
Budget Start
Budget End
Support Year
Fiscal Year
Total Cost
Indirect Cost
University of Michigan Ann Arbor
Schools of Medicine
Ann Arbor
United States
Zip Code
Finan, Caitlin; Nasr, Samya Z; Rothwell, Erin et al. (2015) Primary care providers' experiences notifying parents of cystic fibrosis newborn screening results. Clin Pediatr (Phila) 54:67-75
Madeo, Anne C; Tercyak, Kenneth P; Tarini, Beth A et al. (2014) Effects of undergoing multiplex genetic susceptibility testing on parent attitudes towards testing their children. Ann Behav Med 47:388-94
Goldenberg, Aaron J; Dodson, Daniel S; Davis, Matthew M et al. (2014) Parents' interest in whole-genome sequencing of newborns. Genet Med 16:78-84
Roberts, J Scott; Dolinoy, Dana C; Tarini, Beth A (2014) Emerging issues in public health genomics. Annu Rev Genomics Hum Genet 15:461-80
Tarini, Beth A; Lantos, John D (2013) Lessons that newborn screening in the USA can teach us about biobanking and large-scale genetic studies. Per Med 10:81-87
Wade, Christopher H; Tarini, Beth A; Wilfond, Benjamin S (2013) Growing up in the genomic era: implications of whole-genome sequencing for children, families, and pediatric practice. Annu Rev Genomics Hum Genet 14:535-55
Tarini, Beth A; Exe, Nicole; Zikmund-Fisher, Brian J (2013) Anticipating the arrival of low-penetrance genetic testing to primary care medicine. J Community Genet 4:285-8
Tarini, Beth A; Herman, William H; Lee, Joyce M (2013) Effects of hypothetical type 2 diabetes genetic testing on parents' efforts to prevent diabetes in children. Clin Pediatr (Phila) 52:821-8
Allexan, Sarah S; Byington, Carrie L; Finkelstein, Jerome I et al. (2013) Blindness in Walnut Grove: how did Mary Ingalls lose her sight? Pediatrics 131:404-6
Tarini, Beth A; Konczal, Laura L; Goldenberg, Aaron J et al. (2013) The perils of SNP microarray testing: uncovering unexpected consanguinity. Pediatr Neurol 49:50-3

Showing the most recent 10 out of 19 publications