Browsing by Author "Hebbring, Scott J."

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    The impact of glucocorticoid polymorphisms on markers of neonatal respiratory disease after antenatal betamethasone administration.
    (Elsevier, 2013-03) Haas, David M.; Dantzer, Jessica; Lehmann, Amalia S.; Philips, Santosh; Skaar, Todd C.; McCormick, Catherine L.; Hebbring, Scott J.; Jung, Jeesun; Li, Lang
    OBJECTIVE: We previously demonstrated that maternal and fetal genotypes are associated independently with neonatal respiratory distress syndrome. The objective of the current study was to determine the impact of maternal and fetal single-nucleotide polymorphisms (SNPs) in key betamethasone pathways on respiratory outcomes that serve as markers for severity of disease. STUDY DESIGN: DNA was obtained from women who were given betamethasone and from their infants. Samples were genotyped for 73 exploratory drug metabolism and glucocorticoid pathway SNPs. Clinical variables and neonatal outcomes were obtained. Logistic regression analysis that controlled for relevant clinical variables to determine SNP impact on bronchopulmonary dysplasia (BPD), the need for respiratory support, and surfactant therapy use was performed. RESULTS: Data from 109 women who delivered 117 infants were analyzed: 14.5% of the infants experienced BPD; 70.8% of the infants needed some respiratory support after birth, and 27.5% of the infants needed surfactant therapy. In a multivariable regression analysis, gestational age at delivery was associated with most neonatal respiratory outcomes (P ≤ .01), and chorioamnionitis was associated with BPD (P < .03). The following genotypes were associated with respiratory severity outcomes: BPD-fetal Importin 13 gene (IPO13; rs4448553; odds ratio [OR], 0.01; 95% confidence interval [CI], 0.00-0.92); surfactant use-maternal IPO13 (rs2428953 and 2486014; OR, 13.8; 95% CI, 1.80-105.5; and OR, 35.5; 95% CI, 1.71-736.6, respectively). CONCLUSION: Several discrete maternal and fetal SNPs in the IPO13 family may be associated with neonatal respiratory outcomes after maternal antenatal corticosteroid treatment for anticipated preterm birth.
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    Understanding the Return of Genomic Sequencing Results Process: Content Review of Participant Summary Letters in the eMERGE Research Network
    (MDPI, 2020-05-13) Lynch, John A.; Sharp, Richard R.; Aufox, Sharon A.; Bland, Sarah T.; Blout, Carrie; Bowen, Deborah J.; Buchanan, Adam H.; Halverson, Colin; Harr, Margaret; Hebbring, Scott J.; Henrikson, Nora; Hoell, Christin; Holm, Ingrid A.; Jarvik, Gail; Kullo, Iftikhar J.; Kochan, David C.; Larson, Eric B.; Lazzeri, Amanda; Leppig, Kathleen A.; Madden, Jill; Marasa, Maddalena; Myers, Melanie F.; Peterson, Josh; Prows, Cynthia A.; Kulchak Rahm, Alanna; Ralston, James; Milo Rasouly, Hila; Scrol, Aaron; Smith, Maureen E.; Sturm, Amy; Stuttgen, Kelsey; Wiesner, Georgia; Williams, Marc S.; Wynn, Julia; Williams, Janet L.; Medicine, School of Medicine
    A challenge in returning genomic test results to research participants is how best to communicate complex and clinically nuanced findings to participants in a manner that is scalable to the large numbers of participants enrolled. The purpose of this study was to examine the features of genetic results letters produced at each Electronic Medical Records and Genomics (eMERGE3) Network site to assess their readability and content. Letters were collected from each site, and a qualitative analysis of letter content and a quantitative analysis of readability statistics were performed. Because letters were produced independently at each eMERGE site, significant heterogeneity in readability and content was found. The content of letters varied widely from a baseline of notifying participants that results existed to more detailed information about positive or negative results, as well as materials for sharing with family members. Most letters were significantly above the Centers for Disease Control-suggested reading level for health communication. While continued effort should be applied to make letters easier to understand, the ongoing challenge of explaining complex genomic information, the implications of negative test results, and the uncertainty that comes with some types of test and result makes simplifying letter text challenging.