Improving identification and healthcare for patients with Inherited Cancer Syndromes: Evidence-based EMR implementation using a web-based computer platform

改善遗传性癌症综合征患者的识别和医疗保健：使用基于网络的计算机平台实施基于证据的 EMR

• 批准号: 10831647
• 负责人: Lori Ann Orlando
• 金额: $ 10万
• 依托单位: VANDERBILT UNIVERSITY MEDICAL CENTER
• 依托单位国家: 美国
• 财政年份: 2023
• 资助国家: 美国
• 起止时间: 2023-09-01 至 2024-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10831647
• 关键词: Address; Administrative Supplement; Affect; Algorithms; Caring; Characteristics; Clinical; Collaborations; Communities; Computerized Medical Record; Computers; Data; Data Collection; Data Element; Disease; Doctor of Philosophy; Early identification; Electronic Medical Records and Genomics Network; Electronics; Elements; Endocrinology; Enrollment; Ensure; Equipment and supply inventories; Equity; Exclusion; Exposure to; Family; Family health status; Feedback; Fright; Future; Gender; Gender Identity; Genetic; Genetic Counseling; Genome; Genomics; Goals; Guidelines; Health; Healthcare; Healthcare Systems; Hereditary Malignant Neoplasm; Hereditary Neoplastic Syndromes; Hormonal; Individual; Inherited; Intercept; Intersex; Intervention; Interview; Knowledge; Lead; Malignant Neoplasms; Mammary Gland Parenchyma; Mastectomy; Measures; Medical; Medical Records; Modeling; Online Systems; Organ; Outcome; Participant; Patient Care; Patients; Personal Satisfaction; Phenotypic Sex; Pilot Projects; Population; Population Heterogeneity; Procedures; Process; Publishing; Qualitative Research; Recommendation; Recording of previous events; Reduce health disparities; Research; Research Personnel; Residual state; Risk; Risk Assessment; Sex Characteristics; Sexual and Gender Minorities; Structure; Students; Syndrome; System; Testing; Tissues; Training; Trees; Update; Work; assessment application; cancer care; cancer risk; career; clinical application; clinical care; community engagement; cultural competence; data modeling; data quality; design; early onset; evidence base; experience; falls; gender diversity; gender minority group; genetic pedigree; genetic risk assessment; genomic data; genotypic sex; hormone therapy; improved; information gathering; insight; interest; lifetime risk; marginalized community; marginalized population; member; model development; nonbinary; outreach; parent grant; phase 4 study; prevent; programs; psychosocial; reproductive development; research study; response; screening; sex; sex assigned at birth; sex development disorder; therapy design; tool; transgender

PROJECT ABSTRACT Hereditary cancers are prevalent and cause high lifetime risk of cancer. Early identification of at-risk individuals is imperative to prevent and intercept cancer, but hereditary cancer risk screening lags behind guidelines - a care gap that is wider for medically marginalized communities. Transgender, gender diverse, and sex diverse (TGSD) patients represent one such marginalized community who could benefit from better cancer care, including hereditary cancer risk screening. Phenotypic sex, chromosomal sex, current and past organ/tissue inventory, and hormonal milieu impact risk assessment and care for hereditary cancer syndromes. These elements have unique implications for TGSD individuals. While electronic apps represent an important strategy to reduce health disparities by systematizing risk assessment, these apps collect sex-related variables that are used in risk calculations; culturally incompetent, and thus inaccurate, collection of this data could cause participants to receive an incorrect risk assessment result, ultimately impacting downstream care. The parent grant of the proposed project, the Family History and Cancer Risk Study (FOREST), has implemented a risk assessment app, called MeTree, to increase systematization of risk assessment. MeTree collects sex- and gender-related data, and the sex-related data element drives risk assessment result return. However, following preliminary implementation of Me Tree with just over 300 participant responses, we have found inconsistency of the interpretation of the sex-related field among TGSD individuals, leading to sex-related responses that, based on medical record review, do not correspond with expected response domains for this question. This is likely due to question and response wording and options. Very few measures have been designed with community engagement of TGSD individuals, and no such measures have been designed for genetic risk assessment. We propose engagement with TGSD participants and community members to integrate participant feedback directly into a redesign of the Me Tree sex- and gender-related questions and response options. In semi-structured qualitative interviews with TGSD FOREST participants exposed to MeTree, we will seek to understand participant interpretations of these questions, data validity, and collect participant ideas for respectful and accurate redesign. Using rapid initial analyses of these interviews, we will incorporate changes into a new model for presentation in community engagement panels with panelists who have not been exposed to Me Tree within the study. In these panels, we will engage in co-design with TGSD community members to generate a final Me Tree model that respectfully and accurately collects elements needed for risk assessment. The entire research study will be led by transgender researchers, giving them a unique relational perspective that will facilitate addressing cisnormative assumptions present in current sex- and gender-related data models. Final analyses will be published, and changes incorporated into the MeTree app.

项目摘要 遗传性癌症很普遍，并引起癌症终生的高风险。早期对处于危险的人的早期识别需要预防和拦截癌症，但遗传性癌症风险筛查落后于准则 - 这是医疗边缘化社区更大的护理差距。跨性别，性别多样和性别多样性（TGSD）患者代表了一个这样的边缘化社区，他们可以从更好的癌症护理中受益，包括遗传性癌症风险筛查。表型性别，染色体性别，当前和过去的器官/组织清单以及荷尔蒙环境影响遗传性癌症的风险评估和护理。这些要素对TGSD个人具有独特的影响。尽管电子应用是通过系统化风险评估来减少健康差异的重要策略，但这些应用程序收集了与性别相关的变量，这些变量用于风险计算中；在文化上无能，因此不正确的收集这些数据可能会导致参与者获得不正确的风险评估结果，最终影响下游护理。拟议项目的父母授予，家族史和癌症风险研究（Forest）已实施了一个称为Metrey的风险评估应用程序，以增加风险评估的系统化。 Metree收集与性别相关的数据，与性别相关的数据元素驱动风险评估结果回报。但是，在对ME Tree的初步实施，仅300多个参与者的反应，我们发现TGSD个体中与性别相关领域的解释不一致，从而导致与性别相关的响应，基于病历审查，这与此问题的预期响应域无关。这可能是由于质疑和响应措辞和选项。很少有通过TGSD个人的社区参与设计的措施，并且没有为遗传风险评估而设计的措施。我们建议与TGSD参与者和社区成员参与，以将参与者的反馈直接整合到ME树性和性别相关的问题和回答选择的重新设计中。在与暴露于Metree的TGSD森林参与者的半结构化定性访谈中，我们将寻求了解参与者对这些问题，数据有效性的解释，并收集参与者的想法，以获得尊重和准确的重新设计。利用对这些访谈的快速初步分析，我们将在社区参与面板中与尚未在研究中未接触过我的小组成员的社区参与面板中将变化纳入一个新模型。在这些面板中，我们将与TGSD社区成员共同设计，以生成最终的ME树模型，该模型尊重，准确地收集了风险评估所需的要素。整个研究将由变性研究人员领导，使他们具有独特的关系观点，该观点将有助于解决当前性别和性别相关的数据模型中存在的辅实假设。最终分析将发布，并将变化纳入Metree App。

项目成果

Conducting inclusive research in genetics for transgender, gender-diverse, and sex-diverse individuals: Case analyses and recommendations from a clinical genomics study.

对跨性别、性别多样化和性别多样化个体进行遗传学包容性研究：临床基因组学研究的案例分析和建议。

• DOI: 10.1002/jgc4.1785
• 发表时间: 2023
• 期刊: Journal of genetic counseling
• 影响因子: 1.9
• 作者: Bland,HarrisT;Gilmore,MarianJ;Andujar,Justin;Martin,MakennaA;Celaya-Cobbs,Natasha;Edwards,Clasherrol;Gerhart,Meredith;Hooker,GillianW;Kraft,StephanieA;Marshall,DanaR;Orlando,LoriA;Paul,NatalieA;Pratap,Siddharth;Rosenbloom
• 通讯作者: Rosenbloom