Developing Standards for Cultural Competency Training for Health Care Providers to Care for Lesbian, Gay, Bisexual, Transgender, Queer, Intersex, and Asexual Persons: Consensus Recommendations from a National Panel

Purpose: Lesbian, gay, bisexual, transgender, queer, intersex, and/or asexual and other sexual and gender diverse persons (LGBTQIA + or SGD persons) experience barriers to equitable health care. The purpose of this article is to describe a collaborative process that resulted in core cultural competency recommendations addressing training for those who provide health care and/or social services to LGBTQIA + patients. Methods: In 2018 and 2019, Whitman-Walker Health, a Federally Qualified Community Health Center in Washing- ton, DC, and the National LGBT Cancer Network purposively selected leaders of community clinics and community-based organizations, cultural competency trainers, and clinicians and researchers with expertise in SGD health with diverse lived experiences to develop consensus-based cultural competency recommendations. Recommendations were developed through a synthesis of peer-reviewed studies, publicly accessible curricula, and evaluations of SGD cultural competency trainings; two in-person convenings; and iterative feedback from diverse stakeholders. Results: Five anchoring recommendations emerged: (1) know your audience; (2) develop and fine-tune the curriculum; (3) employ both adult and transformational learning theories; (4) choose multiple effective trainers; and (5) evaluate impact of training. These recommendations promote an ongoing process of individual and organizational improvement and a stance of humility rather than competence to be mastered. Conclusion: By setting core cultural competency standards for all persons involved in health care and social services, these recommendations complement existing clinical competency recommendations to advance SGD health equity

Sorl1 as an Alzheimer's disease predisposition gene?

Alzheimer's disease (AD) is a neurodegenerative disorder characterized by progressively disabling impairments in memory, cognition, and non-cognitive behavioural symptoms. Sporadic AD is multifactorial and genetically complex. While several monogenic mutations cause early-onset AD and gene alleles have been suggested as AD susceptibility factors, the only extensively validated susceptibility gene for late-onset AD is the apolipoprotein E (APOE) epsilon4 allele. Alleles of the APOE gene do not account for all of the genetic load calculated to be responsible for AD predisposition. Recently, polymorphisms across the neuronal sortilin-related receptor (SORL1) gene were shown to be significantly associated with AD in several cohorts. Here we present the results of our large case-control whole-genome scan at over 500,000 polymorphisms which presents weak evidence for association and potentially narrows the association interval

Analysis of shared heritability in common disorders of the brain

ience, this issue p. eaap8757 Structured Abstract INTRODUCTION Brain disorders may exhibit shared symptoms and substantial epidemiological comorbidity, inciting debate about their etiologic overlap. However, detailed study of phenotypes with different ages of onset, severity, and presentation poses a considerable challenge. Recently developed heritability methods allow us to accurately measure correlation of genome-wide common variant risk between two phenotypes from pools of different individuals and assess how connected they, or at least their genetic risks, are on the genomic level. We used genome-wide association data for 265,218 patients and 784,643 control participants, as well as 17 phenotypes from a total of 1,191,588 individuals, to quantify the degree of overlap for genetic risk factors of 25 common brain disorders. RATIONALE Over the past century, the classification of brain disorders has evolved to reflect the medical and scientific communities' assessments of the presumed root causes of clinical phenomena such as behavioral change, loss of motor function, or alterations of consciousness. Directly observable phenomena (such as the presence of emboli, protein tangles, or unusual electrical activity patterns) generally define and separate neurological disorders from psychiatric disorders. Understanding the genetic underpinnings and categorical distinctions for brain disorders and related phenotypes may inform the search for their biological mechanisms. RESULTS Common variant risk for psychiatric disorders was shown to correlate significantly, especially among attention deficit hyperactivity disorder (ADHD), bipolar disorder, major depressive disorder (MDD), and schizophrenia. By contrast, neurological disorders appear more distinct from one another and from the psychiatric disorders, except for migraine, which was significantly correlated to ADHD, MDD, and Tourette syndrome. We demonstrate that, in the general population, the personality trait neuroticism is significantly correlated with almost every psychiatric disorder and migraine. We also identify significant genetic sharing between disorders and early life cognitive measures (e.g., years of education and college attainment) in the general population, demonstrating positive correlation with several psychiatric disorders (e.g., anorexia nervosa and bipolar disorder) and negative correlation with several neurological phenotypes (e.g., Alzheimer's disease and ischemic stroke), even though the latter are considered to result from specific processes that occur later in life. Extensive simulations were also performed to inform how statistical power, diagnostic misclassification, and phenotypic heterogeneity influence genetic correlations. CONCLUSION The high degree of genetic correlation among many of the psychiatric disorders adds further evidence that their current clinical boundaries do not reflect distinct underlying pathogenic processes, at least on the genetic level. This suggests a deeply interconnected nature for psychiatric disorders, in contrast to neurological disorders, and underscores the need to refine psychiatric diagnostics. Genetically informed analyses may provide important "scaffolding" to support such restructuring of psychiatric nosology, which likely requires incorporating many levels of information. By contrast, we find limited evidence for widespread common genetic risk sharing among neurological disorders or across neurological and psychiatric disorders. We show that both psychiatric and neurological disorders have robust correlations with cognitive and personality measures. Further study is needed to evaluate whether overlapping genetic contributions to psychiatric pathology may influence treatment choices. Ultimately, such developments may pave the way toward reduced heterogeneity and improved diagnosis and treatment of psychiatric disorders

Defining the causes of sporadic Parkinson's disease in the global Parkinson's genetics program (GP2)

The Global Parkinson’s Genetics Program (GP2) will genotype over 150,000 participants from around the world, and integrate genetic and clinical data for use in large-scale analyses to dramatically expand our understanding of the genetic architecture of PD. This report details the workflow for cohort integration into the complex arm of GP2, and together with our outline of the monogenic hub in a companion paper, provides a generalizable blueprint for establishing large scale collaborative research consortia

Multi-ancestry genome-wide association meta-analysis of Parkinson?s disease

Although over 90 independent risk variants have been identified for Parkinson’s disease using genome-wide association studies, most studies have been performed in just one population at a time. Here we performed a large-scale multi-ancestry meta-analysis of Parkinson’s disease with 49,049 cases, 18,785 proxy cases and 2,458,063 controls including individuals of European, East Asian, Latin American and African ancestry. In a meta-analysis, we identified 78 independent genome-wide significant loci, including 12 potentially novel loci (MTF2, PIK3CA, ADD1, SYBU, IRS2, USP8, PIGL, FASN, MYLK2, USP25, EP300 and PPP6R2) and fine-mapped 6 putative causal variants at 6 known PD loci. By combining our results with publicly available eQTL data, we identified 25 putative risk genes in these novel loci whose expression is associated with PD risk. This work lays the groundwork for future efforts aimed at identifying PD loci in non-European populations

Assessing widening disparities in HbA1c and systolic blood pressure retesting during the COVID-19 pandemic in an LGBTQ+-focused federally qualified health center in Chicago: a retrospective cohort study using electronic health records

Introduction To assess disparities in retesting for glycated hemoglobin (HbA1c) and systolic blood pressure (SBP) among people with diabetes mellitus (DM) and hypertension (HTN), respectively, we analyzed medical records from a lesbian, gay, bisexual, transgender, queer-specialized federally qualified health center with multiple sites in Chicago.Research design and methods We identified people with DM seen in 2018 and 2019 then assessed if individuals had HbA1c retested the following year (2019 and 2020). We repeated this using SBP for people with HTN. Rates of retesting were compared across gender, sexual orientation, and race and ethnicity and across the 2 years for each categorization with adjustment for socioeconomic indicators.Results Retesting rates declined from 2019 to 2020 for both HbA1c and SBP overall and across all groups. Cisgender women and transgender men with DM (vs cisgender men) and straight people (vs gay men) had significantly lower odds of HbA1c retesting for both years. There was evidence of widening of HbA1c retesting disparities in 2020 between gay men and other orientations. Cisgender women, straight people, and black people (vs white) with HTN had significantly lower odds of SBP retesting for both years. There was evidence of narrowing in the retesting gap between black and white people with HTN, but this was due to disproportionate increase in no retesting in white people rather than a decline in no retesting among black people with HTN.Conclusions Disparities in DM and HTN care according to gender, race, ethnicity, and sexual orientation persisted during the pandemic with significant widening according to sexual orientation