"Personalized medicine" disparities

Genome-wide association studies (GWAS) have allowed the identification of disease-associated variants, which can be leveraged to build polygenic scores (PGSs). Even though PGSs can be a valuable tool in personalized medicine, their predictive power is limited in populations of non-European ancestry, particularly in admixed populations. Recent efforts have focused on increasing racial and ethnic diversity in GWAS, thus, addressing some of the limitations of genetic risk prediction in these populations. Even with these efforts, few studies focus exclusively on Hispanics/Latinos...

Heterogeneity of colorectal carcinoma (CRC) represents a major hurdle towards personalized medicine. Efforts based on whole tumor profiling demonstrated that the CRC molecular subtypes were associated with specific tumor morphological patterns representing tumor subregions. We hypothesize that whole-tumor molecular descriptors depend on the morphological heterogeneity with significant impact on current molecular predictors. We investigated intra-tumor heterogeneity by morphology-guided transcriptomics to better understand the links between gene expression and tumor morphology represented by six morphological patterns (morphotypes): complex tubular, desmoplastic, mucinous, papillary, serrated, and solid/trabecular...

Current research primarily emphasizes the generalized correlations between airborne pollution and respiratory diseases, seldom considering the differential impacts of particular particulate matter sizes on chronic obstructive pulmonary disease (COPD) exacerbations in distinct Global Initiative for Obstructive Lung Disease (GOLD) categories. This study hypothesizes a critical association between particulate matter sizes (PM 1.0, PM 2.5, and PM 10) and exacerbation frequency in COPD patients categorized under GOLD 3 and GOLD 4, with a potential augmenting role played by proximity to main roads and industrial areas...

Multimodal neuroimaging has gained traction in Alzheimer's Disease (AD) diagnosis by integrating information from multiple imaging modalities to enhance classification accuracy. However, effectively handling heterogeneous data sources and overcoming the challenges posed by multiscale transform methods remains a significant hurdle. This article proposes a novel approach to address these challenges. To harness the power of diverse neuroimaging data, we employ a strategy that leverages optimized convolution techniques...

This review examines a prevalent condition with multifaceted etiology encompassing genetic, environmental, and oral behavioral factors. It stands as a significant ailment impacting oral functionality, aesthetics, and quality of life. Longitudinal studies indicate that malocclusion in primary dentition may progress to permanent malocclusion. Recognizing and managing malocclusion in primary dentition is gaining prominence. The World Health Organization ranks malocclusions as the third most widespread oral health issue globally...

With increased technological sophistication and rapidly reducing costs, currently, a huge amount of personal and populationlevel human genomic data and information is generated globally. There is an urgent need for an adequately curated and annotated human genome variant database for successful and large-scale application and translation in biomedical research, medical (healthcare) applications, socio-economic benefits and many other applications. The bulk of the available genomic data is generated from peoples of European descent...

Recent advances in skin-interfaced wearable sweat sensors enable the noninvasive, real-time monitoring of biochemical signals associated with health and wellness. These wearable platforms leverage microfluidic channels, biochemical sensors, and flexible electronics to enable the continuous analysis of sweat-based biomarkers such as electrolytes, metabolites, and hormones. As this field continues to mature, the potential of low-cost, continuous personalized health monitoring enabled by such wearable sensors holds significant promise for addressing some of the formidable obstacles to delivering comprehensive medical care in under-resourced settings...

Stroke rehabilitation is a lengthy procedure that is necessary for stroke recovery. However, stroke rehabilitation may not be readily available for patients who live rurally due to barriers such as transportation and expenses. This shortage in wearable technology, in turn, causes health disparity among the rural population, which was exacerbated by the COVID-19 pandemic restrictions. Telerehabilitation (TR) is a potential solution for stroke rehabilitation in rural areas. This one-case study aimed to examine the feasibility and safety of a technology-enabled at-home TR program for stroke survivors living in a rural area in Canada...

Spontaneous preterm birth (PTB) is multifactorial and underlying etiologies remain incompletely understood. Supplementation with progestogens, including 17-alpha hydroxyprogesterone caproate (17-OHPC) has been a mainstay of prematurity prevention strategies in the US over the last two decades. Following a recent negative confirmatory trial, 17-OHPC was withdrawn from the US market and is currently available only through clinical research studies. In this Expert Review, we summarize clinical and research data regarding use of 17-alpha hydroxyprogesterone caproate in the US from 2003-2023 for the purposes of recurrent prematurity prevention...

PURPOSE OF REVIEW: Atrial fibrillation (AF) is the most common sustained cardiac arrhythmia. The estimated lifetime risk of developing AF is higher in men; however, due to differences in life expectancy, the overall prevalence is higher among women, particularly in the older age group. Sex differences play an important role in the pathophysiology, presentation, and clinical outcomes of AF. Awareness of these differences minimizes the potential for disparities in AF management. Our review summarizes the current literature on sex differences in AF, including the epidemiology, pathophysiology, risk factors, clinical symptomatology, mechanisms, treatment, and outcomes...

It is a well-known hypothesis that weather can influence human health, including pain sensation. The primary meteorological factors are atmospheric pressure, wind, humidity, precipitation, and temperature, which vary from the climate and seasons, but the parameters of space weather (e.g., geomagnetic and cosmic ray activities) also may affect our body condition. Despite a significant number of experimental studies, reviews, and meta-analyses concerning the potential role of weather in pain sensitivity, the findings are heterogeneous and lack consensus...

Inflammatory bowel diseases are increasing among different ethnic groups. We aimed to compare the clinical characteristics, complications, and outcomes among Arab and Jewish people sharing the same healthcare system. All patients older than 18 years with a diagnosis of Crohn's disease (CD) or ulcerative colitis (UC) between the years 2000 and 2021 were included. Data regarding demographics, disease characteristics, extraintestinal manifestation, treatment, comorbidities, and mortality were retrieved. A total of 1263 (9...

(1) Background: Prioritization of patients for liver transplantation in Germany relies on the MELD (model for end-stage liver disease) scoring system that does not consider the patient's sex. Many studies have shown that women are disadvantaged by the MELD score. Using a large patient cohort from a German liver transplant centre, we investigated options to reduce gender inequality in the patient prioritization for liver transplantation. (2) Methods: We calculated female-as-male MELD scores in our cohort by substituting the serum creatinine of a female patient with that of their male equivalent to test for the fairness of the scores...

There are a number of devastating complications associated with peripheral artery disease, including limb amputations and acute limb ischemia. Despite the overlap, atherosclerotic diseases have distinct causes that need to be differentiated and managed appropriately. In coronary atherosclerosis, thrombosis is often precipitated by rupture or erosion of fibrous caps around atheromatous plaques, which leads to acute coronary syndrome. Regardless of the extent of atherosclerosis, peripheral artery disease manifests itself as thrombosis...

Historically marginalized populations are disproportionately affected by many diseases that commonly affect the retina, yet they have been traditionally underrepresented in prospective clinical trials. This study explores whether this disparity affects the clinical trial enrollment process in the retina field and aims to inform future trial recruitment and enrollment. Age, gender, race, ethnicity, preferred language, insurance status, social security number (SSN) status, and median household income (estimated using street address and zip code) for patients referred to at least one prospective, retina-focused clinical trial at a large, urban, retina-based practice were retrospectively extracted using electronic medical records...

Background : Obstructive sleep apnea (OSA) increases the risk of stroke and cardiovascular diseases. However, its impact on geriatric patients with a prior history of stroke/transient ischemic attack (TIA) has not been adequately studied. Methods: We utilized the 2019 National Inpatient Sample in the US to identify geriatric patients with OSA (G-OSA) who had a prior history of stroke/TIA. We then compared subsequent stroke (SS) rates among sex and race subgroups. We also compared the demographics and comorbidities of SS+ and SS- groups and utilized logistic regression models to assess outcomes...

Parkinson's disease (PD), the most common motoric neurodegenerative illness, has been extensively researched to better understand its complex pathophysiology. Nearly 80% of genome-wide association studies have been conducted on persons of European ancestry, indicating a lack of diversity in human genetics. Disparate representation may result in disparities that impede the equitable adoption of personalized medicine and may also limit our knowledge of illness etiology. Even though Parkinson's disease (PD) is a global affliction, the AfrAbia population remains understudied...

There has been much interest in the evaluation of heterogeneous treatment effects (HTE) and multiple statistical methods have emerged under the heading of personalized/precision medicine combining ideas from hypothesis testing, causal inference, and machine learning over the past 10-15 years. We discuss new ideas and approaches for evaluating HTE in randomized clinical trials and observational studies using the features introduced earlier by Lipkovich, Dmitrienko, and D'Agostino that distinguish principled methods from simplistic approaches to data-driven subgroup identification and estimating individual treatment effects and use a case study to illustrate these approaches...

Precision medicine offers remarkable potential for the treatment of cancer, but is largely focused on tumors that harbor actionable mutations. Gene expression signatures can expand the scope of precision medicine by predicting response to traditional (cytotoxic) chemotherapy agents without relying on changes in mutational status. We present a new signature extraction method, inspired by the principle of convergent phenotypes, which states that tumors with disparate genetic backgrounds may evolve similar phenotypes independently...

While the significance of gender has only recently been recognized, gender assigned at birth has long been understood to have a significant influence on a number of illnesses. Due to the paucity of data in this regard in pediatrics, the purpose of this narrative review is to frame the most recent knowledge about the role of gender assigned at birth in the neurological development and neuropsychiatric disorders among young people. Literature analysis showed that gender disparities exist in neurologic and neuropsychiatric disorders among the pediatric population and supported the fact that new guidelines should take this into account...