DANIELA DECRISTO

CAPSTONE

Capstone Project Committee: Kate Foreman, MS, CGC, Julianne O’Daniel, MS, CGC, Laura Milko, PhD, Rachel Mills, MS, CGC

In a previously published study, genes considered for newborn screening (NBS) using genomic sequencing were categorized based on gene-disease clinical actionability, or the degree to which positive results and intervention would prevent or reduce disease, risks, and/or burdens. These classifications, made by clinicians and biocurators at a single institution, may or may not align with the opinions of the broader genetics community. This study aimed to explore opinions of the pediatric genetics community about the hypothetical inclusion in NBS of genes and conditions that had modest or intermediate actionability scores in the previous work. Forty genetics healthcare professionals responded to an online survey through which they were presented with ten gene-disease pairs, five that were proposed for inclusion in NBS by Milko et al. (2019) and five excluded. Without being informed of the classifications from the prior study or given any criteria to consider when classifying, respondents were asked about their clinical experience with each condition, their opinion for/against inclusion in NBS, and level of confidence in their classification. They were also asked to describe informational sources that influenced their decision-making. Out of ten gene-disease pairs, two received support for inclusion by greater than 50% of respondents: IDUA and MLYCD. These two genes are associated with a core condition and secondary condition, respectively, on the RUSP. Only one of these two gene-disease pairs was proposed for NBS inclusion by Milko et al. (2019). Free text responses describing respondents’ decision-making frequently referenced themes of treatment availability and efficacy. This study identified discrepancies in inclusion decisions between the systematic assessment by Milko et al. (2019)and the pediatric genetics community. These discrepancies may be due to differences in gestalt reactions of respondents, clinical experience, and/or weighting of provided information including disease description, inheritance, intervention, and available practice guidelines since specific classification criteria and the prioritization thereof was not provided. Before genomic sequencing can be applied to newborn screening in the public health setting, further exploration of the inclusion of moderately actionable gene-disease pairs is needed to inform criteria and guidelines for decision-making.

Since Graduation

Daniela has been spending time with family and reconnecting with friends since graduation. She is currently living in Winston-Salem, NC as she studies for boards and prepares to start working in July.