Conducting inclusive research in genetics for transgender, gender-diverse, and sex-diverse individuals: Case analyses and recommendations from a clinical genomics study.

A person's phenotypic sex (i.e., endogenous expression of primary, secondary, and endocrinological sex characteristics) can impact crucial aspects of genetic assessment and resulting clinical care recommendations. In studies with genetics components, it is critical to collect phenotypic sex, information about current organ/tissue inventory and hormonal milieu, and gender identity. If researchers do not carefully construct data models, transgender, gender diverse, and sex diverse (TGSD) individuals may be given inappropriate care recommendations and/or be subjected to misgendering, inflicting medical and psychosocial harms. The recognized need for an inclusive care experience should not be limited to clinical practice but should extend to the research setting, where researchers must build an inclusive experience for TGSD participants. Here, we review three TGSD participants in the Family History and Cancer Risk Study (FOREST) to critically evaluate sex- and gender-related survey measures and associated data models in a study seeking to identify patients at risk for hereditary cancer syndromes. Furthermore, we leverage these participants' responses to sex- and gender identity-related questions in FOREST to inform needed changes to the FOREST data model and to make recommendations for TGSD-inclusive genetics research design, data models, and processes.

Intraoperative optimization to decrease postoperative PRBC transfusion in children undergoing craniofacial reconstruction.

BACKGROUND: Craniofacial reconstructive surgery for craniosynostosis is associated with large blood loss and intraoperative transfusion. This blood loss may continue through the initial postoperative period, potentially resulting in transfusion postoperatively. The purpose of this study is to determine if there is an association between any modifiable intraoperative factors and postoperative blood transfusion in this patient population. METHODS: A cohort of 55 pediatric patients who underwent primary craniofacial reconstruction at Vanderbilt Children's Hospital from January 1, 2013 to April 31, 2014 was analyzed. The authors analyzed 20 different demographic and perioperative variables for statistical associations with postoperative PRBC transfusion using multiple logistic regression with optimal models being selected by Bayesian model averaging. RESULTS: The optimal regression model only included initial PACU Hct as a predictor and showed a significant association between this variable and postoperative PRBC transfusion (odds ratio 0.69, 95% CI 0.55-0.87, P = 0.0016). Based on the average decrease in postoperative hematocrit (Hct) and the postoperative transfusion trigger, an initial PACU Hct threshold of 30 was calculated. In our patient sample, an initial PACU Hct above 30 was associated with a 50% decrease in the absolute risk of receiving a PRBC transfusion postoperatively. CONCLUSIONS: Based on this retrospective analysis, it may be justifiable to transfuse residual volume from previously exposed intraoperative PRBCs to a Hct above 30 to decrease the likelihood of subsequent blood transfusions from different donors in the postoperative period.