Demographic Characteristics Associated With Perceptions of Personal Utility in Genetic and Genomic Testing: A Systematic Review.

Importance: The expansion of genetic and genomic testing in health care has led to recognition that these tests provide personal as well as clinical utility to patients and families. However, available systematic reviews on this topic have not reported the demographic backgrounds of participants in studies of personal utility, leaving generalizability unclear. Objective: To determine the demographic characteristics of participants in studies examining the personal utility of genetic and genomic testing in health care. Evidence Review: For this systematic review, we utilized and updated the results of a highly cited 2017 systematic review on the personal utility of genetics and genomics, which identified relevant articles published between January 1, 2003, and August 4, 2016. We also used the original methods to update this bibliography with literature published subsequently up to January 1, 2022. Studies were screened for eligibility by 2 independent reviewers. Eligible studies reported empirical data on the perspectives of patients, family members, and/or the general public in the US on the personal utility of any type of health-related genetic or genomic test. We utilized a standardized codebook to extract study and participant characteristics. We summarized demographic characteristics descriptively across all studies and by subgroup based on study and participant characteristics. Findings: We included 52 studies with 13 251 eligible participants. Sex or gender was the most frequently reported demographic characteristic (48 studies [92.3%]), followed by race and ethnicity (40 studies [76.9%]), education (38 studies [73.1%]), and income (26 studies [50.0%]). Across studies, participants disproportionately were women or female (mean [SD], 70.8% [20.5%]), were White (mean [SD], 76.1% [22.0%]), had a college degree or higher (mean [SD], 64.5% [19.9%]), and reported income above the US median (mean [SD], 67.4% [19.2%]). Examination of subgroups of results by study and participant characteristics evidenced only small shifts in demographic characteristics. Conclusions and Relevance: This systematic review examined the demographic characteristics of individual participants in studies of the personal utility of health-related genetic and genomic testing in the US. The results suggest that participants in these studies were disproportionately White, college-educated women with above-average income. Understanding the perspectives of more diverse individuals regarding the personal utility of genetic and genomic testing may inform barriers to research recruitment and uptake of clinical testing in currently underrepresented populations.

Opportunities and pitfalls of social media research in rare genetic diseases: a systematic review.

PURPOSE: Social media may be particularly valuable in research in rare genetic diseases because of the low numbers of patients and the rare disease community's robust online presence. The goal of this systematic review was to understand how social media is currently used in rare disease research and the characteristics of the participants in these studies. METHODS: We conducted a systematic review of six databases to identify studies published in English between January 2004 and November 2020, of which 120 met inclusion criteria. RESULTS: Most studies were observational (n = 114, 95.0%) and cross-sectional (n = 107, 89.2%), and more than half (n = 69, 57.5%) utilized only surveys. Only 101 rare diseases were included across all studies. Participant demographics, when reported, were predominantly female (70.1% ± 22.5%) and white (85.0% ± 11.0%) adult patients and caregivers. CONCLUSION: Despite its potential benefits in rare disease research, the use of social media is still methodologically limited and the participants reached may not be representative of the rare disease population by gender, race, age, or rare disease type. As scholars explore using social media for rare disease research, careful attention should be paid to representativeness when studying this diverse patient community.

The Intersection of Work and Home Challenges Faced by Physician Mothers During the Coronavirus Disease 2019 Pandemic: A Mixed-Methods Analysis.

Objectives: The coronavirus disease 2019 (COVID-19) pandemic has presented extreme challenges for health care workers. This study sought to characterize challenges faced by physician mothers, compare differences in challenges by home and work characteristics, and elicit specific needs and potential solutions. Methods: We conducted a mixed-methods online survey of the Physician Moms Group (PMG) and PMG COVID19 Subgroup on Facebook from April 18th to 29th, 2020. We collected structured data on personal and professional characteristics and qualitative data on home and work concerns. We analyzed qualitative data thematically and used bivariate analyses to evaluate variation in themes by frontline status and children's ages. Results: We included 1,806 participants in analysis and identified 10 key themes. The most frequently identified need/solution was for Community and Government Support (n = 545, 47.1%). When comparing frontline and nonfrontline physicians, those on the frontline more frequently raised concerns about Personal Health and Safety (67.8% vs. 48.4%, p < 0.001), Organizational Communication and Relationships (31.8% vs. 23.8%, p < 0.001), and Family Health and Safety (27.2 vs. 16.6, p < 0.001), while nonfrontline physicians more frequently addressed Patient Care and Safety (56.4% vs. 48.2%, p < 0.001) and Financial/Job Security (33.8% vs. 46.9%, p < 0.001). Participants with an elementary school-aged child more frequently raised concerns about Parenting/Homeschooling (44.0% vs. 31.1%, p < 0.001) and Work/Life Balance (28.4 vs. 13.7, p < 0.001), and participants with a preschool-aged child more frequently addressed Access to Childcare (24.0 vs. 7.7, p < 0.001) and Spouse/Partner Relationships (15.8 vs. 9.5, p < 0.001), when compared to those without children in these age groups. Conclusions: The physician workforce is not homogenous. Health care and government leaders need to understand these diverse challenges in order to meet physicians' professional and family needs during the pandemic.

The effect of pregnancy on nitrogen retention, maternal insulin sensitivity, and mRNA abundance of genes involved in energy and amino acid metabolism in gilts.

Twenty-one of each pregnant (P) and nonserviced, nonpregnant (NP) sister-pairs of gilts were selected to investigate the effect of pregnancy on protein deposition (Pd; whole body and maternal), insulin sensitivity, and mRNA abundance of genes involved in energy and AA metabolism. Between breeding (study day 0) and day 111, P and NP gilts received 2.16 kg of the experimental diet (3.34 Mcal ME/kg, 17.6% crude protein, 0.78% standardized ileal digestible lysine) that was formulated to meet the estimated ME requirements of pregnant gilts (and meet or exceed AA requirements). Nitrogen balances were conducted on day 63 and 102 ± 0.2 of the study during 4-d periods. Blood samples were collected on day 43, 56, 71, 85, 98, and 108 ± 0.3 of the study to determine plasma concentrations of fasted IGF-1, estradiol (E2), and estrone sulfate (E1S). Frequently sampled intravenous glucose tolerance tests (FSIGTT) were conducted on day 75 ± 0.7 in 6 P and 5 NP gilts and on day 107 ± 0.4 in 17 P and 17 NP gilts and the MINMOD approach was applied to evaluate whole body insulin sensitivity and pancreatic responsiveness. Longissimus muscle (LM) and s.c. adipose tissue (AD) samples were excised from 12 P and 12 NP gilts at day 111 ± 0.4 of the study after euthanasia to determine mRNA abundance of key genes. Whole body Pd was greater (P < 0.001) at day 102 and maternal Pd was lower (P < 0.002) at day 63 and 102 for P compared to NP gilts. Plasma concentrations of E1S and E2 increased (P < 0.05) with study day for P gilts and remained constant for NP gilts, which coincided with reduced plasma concentrations of IGF-1 and increased estrogen receptor alpha (ESR1) mRNA abundance in LM of P gilts. Glucose effectiveness was not different between P and NP gilts, but whole body insulin sensitivity was lower (P = 0.004) in P compared to NP gilts on day 75 and 107, which corresponded with reduced mRNA abundances of SLC2A4, HK2, SREBF1, and FASN, and increased abundances of PDK4 and PPARGC1A in LM and AD. When fed identically, P gilts had greater whole body Pd at day 102, which reflects Pd in the pregnancy-associated tissues (at the expense of maternal Pd), likely driven by estrogen-stimulated insulin resistance in peripheral tissue and subsequent modulation of gene expression relating to glucose metabolism.