CHOICES for sickle cell reproductive health: A protocol of a randomized preconception intervention model for a single gene disorder.

Our long-term goal is to foster genetically informed reproductive health knowledge and behaviors among young adults with sickle cell disease (SCD) or sickle cell trait (SCT) with a web-based, tailored, multimedia intervention called CHOICES. CHOICES is designed to help young adults with SCD or SCT preconception to gain knowledge of genetic inheritance, specify their reproductive health intentions (their parenting plan), and engage in reproductive health behaviors concordant with their parenting plan. In a previous study, we found high acceptability of both the e-Book (usual care control) and CHOICES interventions. We also found sustained (24 months), significant effects on knowledge but not on behavior, most likely because half of the recruited group was not at risk for their children inheriting SCD. Hence, we propose an adequately powered randomized controlled trial with the CHOICES intervention and an e-Book control to compare their effects on genetic inheritance knowledge and at-risk reproductive health behaviors (immediate posttest and at 6, 12, 18, and 24 months). We will conduct subgroup analyses to provide insight into the baseline knowledge and behavior as well as the intervention effects in different demographic or acceptability groups. Given the scalability and low cost of CHOICES, if proved to be effective, it can reach the affected population at low cost.

Review of genetic and pharmacogenetic differences in cytotoxic and targeted therapies for pancreatic cancer in African Americans.

Pancreatic ductal adenocarcinoma (PDAC) is currently the third leading cause of cancer mortality and the incidence is projected to increase by 2030. Despite recent advances in its treatment, African Americans have a 50-60% higher incidence and 30% higher mortality rate when compared to European Americans possibly resulting from differences in socioeconomic status, access to healthcare, and genetics. Genetics plays a role in cancer predisposition, response to cancer therapeutics (pharmacogenetics), and in tumor behavior, making some genes targets for oncologic therapeutics. We hypothesize that the germline genetic differences in predisposition, drug response, and targeted therapies also impact PDAC disparities. To demonstrate the impact of genetics and pharmacogenetics on PDAC disparities, a review of the literature was performed using PubMed with variations of the following keywords: pharmacogenetics, pancreatic cancer, race, ethnicity, African, Black, toxicity, and the FDA-approved drug names: Fluoropyrimidines, Topoisomerase inhibitors, Gemcitabine, Nab-Paclitaxel, Platinum agents, Pembrolizumab, PARP-inhibitors, and NTRK fusion inhibitors. Our findings suggest that the genetic profiles of African Americans may contribute to disparities related to FDA approved chemotherapeutic response for patients with PDAC. We recommend a strong focus on improving genetic testing and participation in biobank sample donations for African Americans. In this way, we can improve our current understanding of genes that influence drug response for patients with PDAC.

Image-based documentation of vulvodynia pain location.

Aims: Better documentation of vulvar pain is needed. We examined pain locations marked on general body and genital specific outlines among women with vulvodynia. Methods: 62 women (mean age 32.1 ± 9.5 years) with vulvodynia marked their pain on a digital genital specific outline (22 segments) and 59 of those women also marked their pain on a digital general body outline (48 segments). We used ImageJ software to determine body surface area (BSA) for each outline. Results: On the general body outline, 24/48 segments were marked; 22/22 segments were marked on the genital specific outline. There was a moderate correlation (r = 0.43; p = 0.001) between the BSA marked on the general body outline and the BSA marked on the genital area outline. Conclusions: Findings support concurrent validity of the BSA as a measure of pain location using either outline.

Women with genital pain need to be able to show their healthcare provider where they have pain, and providers need to document where women have pain. In total, 62 women with vulvodynia used a computer tablet to mark their pain on a general body outline and a genital specific outline. We used computer software to document the location of women's pain looking at percent body surface area. Women marked half of the segments on the general body outline and all the segments on the genital specific outline. Because women marked almost the same percent of body surface area on the general body outline as they did on the genital specific outline, percent body surface may be used to measure pain location.