An Investigation of Teledermatology Trends in the State of Texas: A Multicenter, Retrospective Cohort Review of an eConsult Service Line.

Background: An eConsult is a growing teledermatology tool that has the potential to address health disparities. Trends in teledermatology usage are still being defined in the context of the pandemic, postpandemic recovery, and a growing nonphysician primary care provider population. Objective: The aim was to understand teledermatology utilization trends for asynchronous dermatology eConsults in the geographically expansive state of Texas. Methods: This multicenter retrospective study examined the eConsult tool within a large, nonprofit health system, comparing characteristics of 893 eConsult visits with 27,189 in-person dermatology encounters from January 2022 to March 2023. Results: When comparing the demographics of patients seen through eConsult versus traditional in-person visits, eConsults demonstrated a significantly higher prevalence of pediatric (22.5% vs. 7.6%, p < 0.001), Hispanic/Latino (20.5% vs. 10.4%, p < 0.001), African American (12.5% vs. 6.9%, p < 0.001), Asian (4.6% vs. 2.1%, p < 0.001), and American Indian (1.0% vs. 0.5%, p = 0.049) patients compared with in-person visits. eConsult users came from areas with a lower percentage of bachelor's degree holders, reduced average household income, and an increased proportion of Medicaid and Tricare users. Physicians (MD/DO) submitted more eConsult cases than nonphysician providers (NPPs), with comparable diagnostic agreement with teledermatologists and similar recommendation rates for in-person dermatology visits. Conclusions: While the limitation of this study was that it was a descriptive data analysis in a single health care system with limited generalizability, eConsults hold promise to broaden dermatologic access for underserved groups, especially children, individuals from underrepresented backgrounds, and Medicaid and Tricare members. While no significant diagnostic or referral differences were seen for eConsults initiated by primary care physician and NPPs, these changing trends should continue to be examined.

A joint fairness model with applications to risk predictions for underrepresented populations.

In data collection for predictive modeling, underrepresentation of certain groups, based on gender, race/ethnicity, or age, may yield less accurate predictions for these groups. Recently, this issue of fairness in predictions has attracted significant attention, as data-driven models are increasingly utilized to perform crucial decision-making tasks. Existing methods to achieve fairness in the machine learning literature typically build a single prediction model in a manner that encourages fair prediction performance for all groups. These approaches have two major limitations: (i) fairness is often achieved by compromising accuracy for some groups; (ii) the underlying relationship between dependent and independent variables may not be the same across groups. We propose a joint fairness model (JFM) approach for logistic regression models for binary outcomes that estimates group-specific classifiers using a joint modeling objective function that incorporates fairness criteria for prediction. We introduce an accelerated smoothing proximal gradient algorithm to solve the convex objective function, and present the key asymptotic properties of the JFM estimates. Through simulations, we demonstrate the efficacy of the JFM in achieving good prediction performance and across-group parity, in comparison with the single fairness model, group-separate model, and group-ignorant model, especially when the minority group's sample size is small. Finally, we demonstrate the utility of the JFM method in a real-world example to obtain fair risk predictions for underrepresented older patients diagnosed with coronavirus disease 2019 (COVID-19).

An investigation of preceptors' perceptions of behavioral elements of "professionalism" among genetic counseling students.

Professionalism in health care is a loosely defined but increasingly studied concept. In genetic counseling, "professional development" expectations for entry-level genetic counselors are described in the "Practice-Based Competencies for Genetic Counselors," but the teaching and evaluation of "professionalism" among genetic counseling students is relatively unexplored. This study investigated program leaders' and clinical supervisors' perceptions of professionalism demonstrated by genetic counseling graduate students to learn about their associated strengths and lapses. Members of program leadership and clinical supervisors at Accreditation Council for Genetic Counseling (ACGC) accredited genetic counseling graduate programs in the United States and Canada were surveyed regarding their observations of genetic counseling students for the years 2017-2019 regarding four domains of professional behavior: integrity, accountability/conscientiousness, teamwork, and patient care, with the Merriam-Webster definition of each behavior provided for each domain. Participants also provided open-text descriptions. Descriptive results showed that the 263 participants found all facets of these professional behaviors to be essential. Patient care had the highest importance and was the domain with the most strengths observed among genetic counseling students. Lapses in professional behavior were identified for self-awareness, time management, and thoroughness. Free responses noted that suggestions or strategies for education about professional behavior from ACGC may improve the professional behavior of genetic counseling students and in turn, genetic counselors. Participants voiced the importance of consideration of diverse professional and cultural backgrounds in setting the expectations for professional behavior among genetic counseling students and genetic counselors so that "professionalism" in genetic counseling is not defined through a White lens. Further investigation into challenges that genetic counseling students face regarding professional behavior during their graduate training and strategies for education about these behaviors will aid in the growth and improvement of the training of genetic counselors. Given the sensitive nature of this topic, portions of this discussion may be triggering for some readers.

Exploring how mothers of a child with a genetic disorder experience their couple relationship in a low socio-economic setting.

Having a child with a genetic disorder directly impacts a couple's relationship due to increased care demands. Most research on couple relationships in the context of having a child with a disability has been done in well-resourced, developed countries. In South Africa, the black South African population has been historically disadvantaged resulting in high rates of unemployment and poverty, and disruption of the family system. The purpose of this study was to explore the impact of having a child with a genetic disorder on the couple relationship in a low socio-economic setting. Thirteen black South African mothers of a child with a confirmed or suspected genetic disorder participated in the study. All participants were recruited while waiting to be seen for a follow-up appointment by a medical geneticist at a Genetic Clinic in Johannesburg, South Africa between 2016 and 2019. Data were collected through semi-structured interviews lasting between 25 and 60 min and analyzed using thematic content analysis. Findings showed that mothers of a child with a genetic disorder in this low socio-economic setting frequently felt unsupported and carried the responsibility of childcare alone. The majority of participants wanted more tangible and emotional support from their partners and without this support they felt isolated and alone. The participants used many different coping strategies to deal with the distress of having a child with a genetic disorder but most frequently they described using 'acceptance'. Participants' partners were more often reported to use escape-avoidance strategies such as abandonment, denying paternity, withdrawal, and partner-blame. We suggest that mothers of a child with a genetic disorder should consult with a genetic counselor in addition to a medical geneticist to enable the provision of emotional support.

Unanswered Questions: Hereditary breast and gynecological cancer risk assessment in transgender adolescents and young adults.

Transgender (TG) individuals have higher rates of mortality associated with cancer diagnoses, in part due to avoidance of gender-assigned cancer screenings resulting in later stages at diagnosis. Knowledge about the risks of breast or gynecological cancer in TG and nonbinary (NB) persons receiving gender-affirming hormone therapy is limited. Even less information exists regarding the subset of individuals with genetic predisposition for these malignancies. We performed a retrospective literature review of studies from the last 15 years on breast cancer rates and identified risks in TG persons. An accumulating body of data on breast cancer incidence in TG persons suggests higher than previously believed rates of breast cancer in TG women compared with cisgender men and risk correlating with duration of hormone use. Few studies have examined other cancer risks in TG populations. To date, only three publications address the association with BRCA1/2 mutation presence and breast cancer incidence in TG persons. Meanwhile, there is growing awareness and social acceptance of TG/NB identities coupled with recognition of gender dysphoria at increasingly earlier ages. No information directly addressing cancer risk counseling in TG/NB adolescents and young adults with a family history of cancer or hereditary cancer syndrome exists. Whether the presence of a known genetic predisposition or strong family cancer history may affect cancer risk in these populations is unknown, leading to significant gaps in clinicians' ability to accurately and appropriately estimate cancer risks and counsel those with genetic predisposition on the risks/benefits associated with surgical options and the initiation, duration, and dosing of gender-affirming hormone therapies. A series of three cases illustrates the utility of cancer risk assessment and genetic testing in TG/NB adolescents and young adults, and the unique challenges and unanswered questions that are encountered in the process.

The real-world insights on the use, safety, and outcome of immune-checkpoint inhibitors in underrepresented populations with lung cancer.

BACKGROUND: The data on immune checkpoint inhibitors (ICI) use in lung cancer individuals generally underrepresented in clinical trials are limited. We aimed to examine the ICI access, safety, and outcome in these populations using real-world data. METHODS: Patients with lung cancer newly started on ICIs from 2018 to 2021 were included. Patient factors (age, sex, race, insurance, Charlson comorbidity index (CCI), Eastern Cooperative Oncology Group (ECOG) performance status, histories of autoimmune disease (AD), infection within 3 months before treatment, and brain metastasis) were collected and grouped. Associations of each patient factor with the time-to-treatment initiation (TTI) of ICIs and immune-related adverse events (irAEs) were examined via cumulative incidence analyses and Chi-squared tests, respectively. Log-rank tests and Cox models were used to assess association of patient factors with overall survival (OS). RESULTS: Of 125 patients (median age:70 years (50-88), 68 (54.4 %) males), 9 (7.2 %) had Medicaid/uninsured, 44 (35.2 %) had ECOG ≥ 2, 101 (80.8 %) had CCI ≥ 3, 16 (12.8 %) had ADs, 14 (11.2 %) had infections, and 26 (20.8 %) had brain metastases. In newly diagnosed stage IV patients (N = 62), no difference in TTI was found by patient factors. Fifty irAEs occurred within 12 months and no differences in irAEs occurrence by patient factors. In advanced-stage group (N = 123), OS did not differ by patient factors, except for race (p = 0.045). Whites showed an inferior OS than non-Whites in multivariable regression. (Hazards ratio = 2.82 [1.01-7.87], p = 0.047). CONCLUSIONS: Previously poorly represented subgroups were shown to have no significant delays in ICI use, general tolerance, and comparable outcomes. This adds practical evidence to ICI use in clinically and/or socio-demographically marginalized populations.

PopGenAdapt: Semi-Supervised Domain Adaptation for Genotype-to-Phenotype Prediction in Underrepresented Populations.

The lack of diversity in genomic datasets, currently skewed towards individuals of European ancestry, presents a challenge in developing inclusive biomedical models. The scarcity of such data is particularly evident in labeled datasets that include genomic data linked to electronic health records. To address this gap, this paper presents PopGenAdapt, a genotype-to-phenotype prediction model which adopts semi-supervised domain adaptation (SSDA) techniques originally proposed for computer vision. PopGenAdapt is designed to leverage the substantial labeled data available from individuals of European ancestry, as well as the limited labeled and the larger amount of unlabeled data from currently underrepresented populations. The method is evaluated in underrepresented populations from Nigeria, Sri Lanka, and Hawaii for the prediction of several disease outcomes. The results suggest a significant improvement in the performance of genotype-to-phenotype models for these populations over state-of-the-art supervised learning methods, setting SSDA as a promising strategy for creating more inclusive machine learning models in biomedical research.

10 Years of GWAS in intraocular pressure.

Intraocular pressure (IOP) is the only modifiable risk factor for glaucoma, the leading cause of irreversible blindness worldwide. In this review, we summarize the findings of genome-wide association studies (GWASs) of IOP published in the past 10 years and prior to December 2022. Over 190 genetic loci and candidate genes associated with IOP have been uncovered through GWASs, although most of these studies were conducted in subjects of European and Asian ancestries. We also discuss how these common variants have been used to derive polygenic risk scores for predicting IOP and glaucoma, and to infer causal relationship with other traits and conditions through Mendelian randomization. Additionally, we summarize the findings from a recent large-scale exome-wide association study (ExWAS) that identified rare variants associated with IOP in 40 novel genes, six of which are drug targets for clinical treatment or are being evaluated in clinical trials. Finally, we discuss the need for future genetic studies of IOP to include individuals from understudied populations, including Latinos and Africans, in order to fully characterize the genetic architecture of IOP.

Hypertrophic Cardiomyopathy in Underrepresented Populations: Clinical and Genetic Landscape Based on a Russian Single-Center Cohort Study.

Hypertrophic cardiomyopathy (HCM) is a common inherited cardiac disorder characterized by marked clinical and genetic heterogeneity. Ethnic groups underrepresented in studies may have distinctive characteristics. We sought to evaluate the clinical and genetic landscape of Russian HCM patients. A total of 193 patients (52% male; 95% Eastern Slavic origin; median age 56 years) were clinically evaluated, including genetic testing, and prospectively followed to document outcomes. As a result, 48% had obstructive HCM, 25% had HCM in family, 21% were asymptomatic, and 68% had comorbidities. During 2.8 years of follow-up, the all-cause mortality rate was 2.86%/year. A total of 5.7% received an implantable cardioverter-defibrillator (ICD), and 21% had septal reduction therapy. A sequencing analysis of 176 probands identified 64 causative variants in 66 patients (38%); recurrent variants were MYBPC3 p.Q1233* (8), MYBPC3 p.R346H (2), MYH7 p.A729P (2), TPM1 p.Q210R (3), and FLNC p.H1834Y (2); 10 were multiple variant carriers (5.7%); 5 had non-sarcomeric HCM, ALPK3, TRIM63, and FLNC. Thin filament variant carriers had a worse prognosis for heart failure (HR = 7.9, p = 0.007). In conclusion, in the Russian HCM population, the low use of ICD and relatively high mortality should be noted by clinicians; some distinct recurrent variants are suspected to have a founder effect; and family studies on some rare variants enriched worldwide knowledge in HCM.

Self-Rated Health and Medically Diagnosed Chronic Disease Association among Adults in Puerto Rico.

Introduction: Latinos report lower self-rated health (SRH) than non-Hispanic White persons. However, the association between SRH and medically diagnosed chronic diseases (MDCDs) remains understudied in Latino populations. This study assessed the relationship between a single-item SRH indicator and MDCD status among predominantly Latino adults in Puerto Rico. Methods: Participants (30-75 years; n=965) of the Puerto Rico Observational Study of Psychosocial, Environmental, and Chronic Disease Trends (PROSPECT) reported SRH (excellent/very good, good, or fair/poor) and MDCD (ever vs never). We performed multivariate logistic regressions to evaluate the association between SRH and MDCD, which adjusted for key socioeconomic, demographic, and behavioral confounders. Results: Twenty-seven percent of participants reported excellent/very good SRH, 39% good, and 34% fair/poor. Participants with fair/poor SRH (vs excellent/very good) were more likely to report MDCD for painful inflammation (odds ratio [OR]=4.95 [95% CI, 3.27-7.48]), kidney disease (4.64 [2.16-9.97]), sleep disorder (4.47 [2.83-7.05]), migraine headaches (4.07 [2.52-6.58]), overweight/obesity (3.84 [2.51-5.88]), depression (3.61 [2.28-5.74]), hypertension (3.59 [2.43-5.32]), high blood sugar (3.43 [2.00-5.89]), cardiovascular disease (3.13 [2.01-4.87]), anxiety (2.87 [1.85-4.44]), arthritis (2.80 [1.83-4.30]), diabetes (2.46 [1.57-3.83]), respiratory problems (2.45 [1.59-3.79]), stomach problems (2.44 [1.57-3.81]), eye disease (2.42 [1.44-4.06]), gallbladder disease (2.34 [1.35-4.05]), liver disease (2.26 [1.38-3.70]), heartburn (2.25 [1.55-3.26]), hyperlipidemia (2.10 [1.44-3.06]), and thyroid conditions (2.04 [1.30-3.21]). Conclusions: SRH may reflect MDCD burden and serve as a valid screener to efficiently identify Latino individuals in high need of clinical services. This is relevant in Puerto Rico, where chronic disease rates remain high amid limited, disparate access to health care.

Barriers and facilitators for clinical trial participation of underrepresented and non-underrepresented fibromyalgia patients: A cross-sectional internet survey.

BACKGROUND: There is a need of well-powered randomized clinical trials in fibromyalgia. However, challenges for recruitment are presented. This study aims to describe and assess the perception of barriers and facilitators and the associated factors for the participation of underrepresented and non-underrepresented fibromyalgia patients. METHODS: We performed an online survey through REDCap (Research Electronic Data Capture) targeting fibromyalgia patients from April 7 to July 3, 2020 during the COVID-19 stay home mandate and it was restricted to the United States of America. We described and compared the survey characteristics between underrepresented and non-underrepresented participants, and we performed logistic regression models to assess the associated factors with clinical trial participation. RESULTS: In total, 481 completed the survey including 168 underrepresented fibromyalgia patients. Only (1) 11.09 % reported previous participation in clinical trials and the significant perceived barriers were investigator-related (lack of friendliness of research staff and the opportunity to receive the results) and center-related (privacy and confidentiality policies, and the institution's reputation); (2) the participation rate and perceived barriers and facilitators were similar between underrepresented and non-underrepresented patients; and was positively associated with low income, higher age, and clinical trial awareness from their physician; and negatively associated with the perception of investigator-related barriers; and (4) for the underrepresented population, the presence of emotional support. CONCLUSION: Our findings suggest low rates of participation, regardless of underrepresented population status. Strategies as involving their physician as liaison to increase the awareness of clinical trials, as well as improving patient-researcher communication should be considered in this population.

Recruitment characteristics and non-adherence associated factors of fibromyalgia patients in a randomized clinical trial: A retrospective survival analysis.

INTRODUCTION: Fibromyalgia is a complex pain condition that affects mostly women. Given the disease's lack of understanding, patients report poor adherence to medication and mistrust of medical services. This study aims to describe the recruitment characteristics and non-adherence associated factors of fibromyalgia patients to an RCT. METHODS: We performed a retrospective longitudinal analysis with data from our ongoing RCT. We investigated characteristics of subjects recruited, consented, and randomized. Adherence was studied using survival analysis techniques, and its associated factors were identified using Cox proportional hazards regression model. RESULTS: 524 subjects were contacted, 269 were eligible, 61 consented and 40 subjects were randomized. Thirty-eight percent were non-adherent to the protocol with a median of visits of five. The recruitment survey reported that 90% would likely participate in RCTs, 52% had previous participation, and 19% were aware of RCTs by their physicians. Some barriers were investigator-related (staff's friendliness and receiving the results of their trial participation) and center-related (privacy-confidentiality issues and the institution's reputation), without difference between adherent and non-adherent participants. We report significant factors for non-adherence as VAS anxiety score of 5 or more (5.3 HR, p = 0.01), Body Mass Index (BMI) (0.91 HR, p = 0.041) and Quality of Life (QoL) - Personal development subdomain (0.89 HR, p = 0.046). CONCLUSION: Recruitment and adherence of fibromyalgia patients is a challenge; however, they seem eager to participate in RCTs. We recommend creating a comfortable, friendly and trusting environment to increase the recruitment rate. Higher anxiety, lower BMI and lower quality of life were associated with a higher attrition rate.

Effects of checkpoint inhibitors in advanced non-small cell lung cancer at population level from the National Immunotherapy Registry.

OBJECTIVE: Phase III studies of checkpoint inhibitors changed the therapeutic landscape for lung cancer. In 2015 the Dutch Society of Chest Physicians (NVALT) introduced a national immunotherapy registry for patients with lung cancer; quality standards for hospitals were implemented. At population level we studied clinical benefit in daily practice and in patients who are underrepresented in phase III trials. MATERIALS AND METHODS: From the initial introduction of checkpoint inhibitors in the Netherlands patients were centrally registered. Educational programs and quality control were provided under supervision of NVALT. The largest immunotherapy providing hospitals were compared to hospitals who provided less checkpoint inhibitors as marker of experience. Patients characteristics, treatment and side effects, response rate and survival were studied. RESULTS: A total of 2676 patients were registered, 2302 with follow up data were evaluated. Between October 2015 and December 2017 a gradual increase from 12 to 30 qualified hospitals showed no major toxicity differences. Toxicity led to a hospital admission rate of 9.1 with an average duration of 10.4 days. Overall tumor response was 21.8 % and median overall survival 12.6 months. Overall survival was not significantly different for patients aged ≥ 75 years, those having brain metastases or selected auto-immune diseases before start checkpoint inhibitors compared to younger patients or those without, respectively. Survival outcomes were worse in patients with PS 2+, non-smokers, and patients who received any palliative radiotherapy (HR 2.1, 95 % CI 1.7-2.7; 1.3, 95 % CI 1.0-1.6 and 1.2, 95 % CI 1.1-1.4, respectively). CONCLUSIONS: Changes in the therapeutic landscape did not lead to major differences in quality of care between hospitals. Elderly patients, those with brain metastases or selected auto-immune disease underrepresented in clinical trials did not do worse on checkpoint inhibitors, except for those with PS 2 + .