Health Policy Commons^™

Family Accommodation In Children And Adolescents With Misophonia, Eric A Storch, Andrew G Guzick, Johann D'Souza, Jane Clinger, Daphne Ayton, Minjee Kook, Conor Rork, Eleanor E Smith, Isabel A Draper, Nasim Khalfe, Catherine E Rast, Nicholas Murphy, Marijn Lijfijjt, Wayne K Goodman, Matti Cervin

Center for Medical Ethics and Health Policy Staff Publications

Family accommodation (e.g., reassurance, modifying routines, assisting avoidance) has not been explored among youth with misophonia but may have important clinical and intervention implications. We examined family accommodation in 102 children and adolescents with interview-confirmed misophonia and compared its frequency and content to family accommodation in 95 children and adolescents with anxiety disorders. Findings showed that family accommodation was ubiquitous in pediatric misophonia and may be even more frequent than in youth with anxiety disorders. Assisting the child, participating in misophonia-related behaviors, and modifying family routines were endorsed by more than 70% of parents of children with misophonia. Further, compared …

Ethical Concerns For Remote Computer Perception In Cardiology: New Stages For Digital Health Technologies, Artificial Intelligence, And Machine Learning, Kristin Kostick-Quenet, Jerry Estep, Jennifer S Blumenthal-Barby

Center for Medical Ethics and Health Policy Staff Publications

No abstract provided.

Public Attitudes, Interests, And Concerns Regarding Polygenic Embryo Screening, Rémy A Furrer, Dorit Barlevy, Stacey Pereira, Shai Carmi, Todd Lencz, Gabriel Lázaro-Muñoz

Center for Medical Ethics and Health Policy Staff Publications

Importance: Polygenic embryo screening (PES) is a novel technology that estimates the likelihood of developing future conditions (eg, diabetes or depression) and traits (eg, height or cognitive ability) in human embryos, with the goal of selecting which embryos to use. Given its commercial availability and concerns raised by researchers, clinicians, bioethicists, and professional organizations, it is essential to inform key stakeholders and relevant policymakers about the public's perspectives on this technology.

Objective: To survey US adults to examine general attitudes, interests, and concerns regarding PES use.

Design, setting, and participants: For this survey study, data were collected from 1 stratified …

Direct Implantation Of Patient Brain Tumor Cells Into Matching Locations In Mouse Brains For Patient-Derived Orthotopic Xenograft Model Development, Lin Qi, Patricia Baxter, Mari Kogiso, Huiyuan Zhang, Frank K Braun, Holly Lindsay, Sibo Zhao, Sophie Xiao, Aalaa Sanad Abdallah, Milagros Suarez, Zilu Huang, Wan Yee Teo, Litian Yu, Xiumei Zhao, Zhigang Liu, Yulun Huang, Jack M Su, Tsz-Kwong Man, Ching C Lau, Laszlo Perlaky, Yuchen Du, Xiao-Nan Li

Center for Medical Ethics and Health Policy Staff Publications

Background: Despite multimodality therapies, the prognosis of patients with malignant brain tumors remains extremely poor. One of the major obstacles that hinders development of effective therapies is the limited availability of clinically relevant and biologically accurate (CRBA) mouse models.

Methods: We have developed a freehand surgical technique that allows for rapid and safe injection of fresh human brain tumor specimens directly into the matching locations (cerebrum, cerebellum, or brainstem) in the brains of SCID mice.

Results: Using this technique, we successfully developed 188 PDOX models from 408 brain tumor patient samples (both high-and low-grade) with a success rate of 72.3% …

Harnessing Rna Technology To Advance Therapeutic Vaccine Antigens Against Chagas Disease, Chiara Mancino, Jeroen Pollet, Assaf Zinger, Kathryn M Jones, Maria José Villar, Ana Carolina Leao, Rakesh Adhikari, Leroy Versteeg, Rakhi Tyagi Kundu, Ulrich Strych, Federica Giordano, Peter J Hotez, Maria Elena Bottazzi, Francesca Taraballi, Cristina Poveda

Center for Medical Ethics and Health Policy Staff Publications

Chagas disease (CD) (American trypanosomiasis caused by Trypanosoma cruzi) is a parasitic disease endemic in 21 countries in South America, with increasing global spread. When administered late in the infection, the current antiparasitic drugs do not prevent the onset of cardiac illness leading to chronic Chagasic cardiomyopathy. Therefore, new therapeutic vaccines or immunotherapies are under development using multiple platforms. In this study, we assessed the feasibility of developing an mRNA-based therapeutic CD vaccine targeting two known T. cruzi vaccine antigens (Tc24—a flagellar antigen and ASP-2—an amastigote antigen). We present the mRNA engineering steps, preparation, and stability of the lipid …

Establishing Consent: The Role Of Women Representatives In Passing Informed Consent Laws, Sophia Stockham

Department of Political Science: Dissertations, Theses, and Student Research

What predicts the adoption of informed consent laws for pelvic exams within the United States? As of January 2023, 22 states have adopted informed consent laws for pelvic examinations on women, with eleven being under Democratic control, six being Republican control, and five with divided control between the legislature and gubernatorial level at the time of adoption. Little attention, however, has been given to women’s health mandates outside the issue of abortion and to variation among state partisan adoption regarding informed consent for pelvic exams. This paper examines the impact of partisanship, the percentage of women in the legislature, and …

Analytical Challenges In Omics Research On Asthma And Allergy: A National Institute Of Allergy And Infectious Diseases Workshop, Supinda Bunyavanich, Patrice M Becker, Matthew C Altman, Jessica Lasky-Su, Carole Ober, Karsten Zengler, Evgeny Berdyshev, Richard Bonneau, Talal Chatila, Nilanjan Chatterjee, Kian Fan Chung, Colleen Cutcliffe, Wendy Davidson, Gang Dong, Gang Fang, Patricia Fulkerson, Blanca E Himes, Liming Liang, Rasika A Mathias, Shuji Ogino, Joseph Petrosino, Nathan D Price, Eric Schadt, James Schofield, Max A Seibold, Hanno Steen, Lisa Wheatley, Hongmei Zhang, Alkis Togias, Kohei Hasegawa

Center for Medical Ethics and Health Policy Staff Publications

Studies of asthma and allergy are generating increasing volumes of omics data for analysis and interpretation. The National Institute of Allergy and Infectious Diseases (NIAID) assembled a workshop comprising investigators studying asthma and allergic diseases using omics approaches, omics investigators from outside the field, and NIAID medical and scientific officers to discuss the following areas in asthma and allergy research: genomics, epigenomics, transcriptomics, microbiomics, metabolomics, proteomics, lipidomics, integrative omics, systems biology, and causal inference. Current states of the art, present challenges, novel and emerging strategies, and priorities for progress were presented and discussed for each area. This workshop report summarizes …

The Role Of Between-Session Homework In Cognitive-Behavioral Therapy For Comorbid Obsessive-Compulsive Disorder And Autism: A Case Vignette, Molly J Church, Katie H Mangen, Jordan T Stiede, Samuel D Spencer, Eric A Storch

Center for Medical Ethics and Health Policy Staff Publications

Objective: Cognitive-behavioral therapy (CBT), which includes a decided emphasis on exposure and response/ritual prevention (ERP) and between-session practice of treatment principles, has consistently demonstrated efficacy for the treatment of obsessive-compulsive disorder (OCD) and is a gold standard, recommended first-line treatment. CBT with ERP has been successfully adapted to fit the needs of autistic individuals with OCD. The present article provides a brief overview of CBT for OCD and outlines special considerations and adaptations needed when working with patients with OCD and comorbid autism, with an emphasis on the importance of between-session homework.

Method: A case vignette is presented.

Results: This …

Genetic Researchers' Use Of And Interest In Research With Diverse Ancestral Groups, Kaitlyn Jaffe, Amanda K Greene, Luyun Chen, Kerry A Ryan, Chris Krenz, J Scott Roberts, Brian J Zikmund-Fisher, Amy L Mcguire, J Denard Thomas, Erica E Marsh, Kayte Spector-Bagdady

Center for Medical Ethics and Health Policy Staff Publications

Importance: Genetic researchers must have access to databases populated with data from diverse ancestral groups to ensure research is generalizable or targeted for historically excluded communities.

Objective: To determine genetic researchers' interest in doing research with diverse ancestral populations, which database stewards offer adequate samples, and additional facilitators for use of diverse ancestral data.

Design, setting, and participants: This survey study was conducted from June to December 2022 and was part of an exploratory sequential mixed-methods project in which previous qualitative results informed survey design. Eligible participants included genetic researchers who held US academic affiliations and conducted research using human …

Achieving Procedural Parity In Managing Access To Genomic And Related Health Data: A Global Survey Of Data Access Committee Members, Jonathan Lawson, Vasiliki Rahimzadeh, Jinyoung Baek, Edward S Dove

Center for Medical Ethics and Health Policy Staff Publications

Data access committees (DACs) are critical players in the data sharing ecosystem. DACs review requests for access to data held in one or more repositories and where specific constraints determine how the data may be used and by whom. Our team surveyed DAC members affiliated with genomic data repositories worldwide to understand standard processes and procedures, operational metrics, bottlenecks, and efficiencies, as well as their perspectives on possible improvements to quality review. We found that DAC operations and systemic issues were common across repositories globally. In general, DAC members endeavored to achieve an appropriate balance of review efficiency, quality, and …

Data Stewardship In Ftld Research: Investigator And Research Participant Views, Jalayne J Arias, Ana M Tyler, Laura M Beskow, Maria C Carillo, Susan Dickinson, Jill Goldman, Mary A Majumder, Michelle M Mello, Heather M Snyder, Jennifer S Yokoyama

Center for Medical Ethics and Health Policy Staff Publications

Introduction: Federal policies and guidelines have expanded the return of individual results to participants and expectations for data sharing between investigators and through repositories. Here, we report investigators' and study participants' views and experiences with data stewardship practices within frontotemporal lobal degeneration (FTLD) research, which reveal unique ethical challenges.

Methods: Semi-structured interviews with (1) investigators conducting FTLD research that includes genetic data collection and/or analysis and (2) participants enrolled in a single site longitudinal FTLD study.

Results: Analysis of the interviews identified three meta themes: perspectives on data sharing, experiences with enrollment and participation, and data management and security as …

Investigating The Roles And Responsibilities Of Institutional Signing Officials After Data Sharing Policy Reform For Federally Funded Research In The United States: National Survey, Jinyoung Baek, Jonathan Lawson, Vasiliki Rahimzadeh

Center for Medical Ethics and Health Policy Staff Publications

Background: New federal policies along with rapid growth in data generation, storage, and analysis tools are together driving scientific data sharing in the United States. At the same, triangulating human research data from diverse sources can also create situations where data are used for future research in ways that individuals and communities may consider objectionable. Institutional gatekeepers, namely, signing officials (SOs), are therefore at the helm of compliant management and sharing of human data for research. Of those with data governance responsibilities, SOs most often serve as signatories for investigators who deposit, access, and share research data between institutions. Although …

Environmental Detection Of Parasites In The Marginalized Paiute Reservations Compared To A Nearby Area, Shannon Mckim, Kristen Kopystynsky, Nathaniel Wolf, Fahim A Akbar, Maria Elena Bottazzi, Peter J Hotez, Rojelio Mejia

Center for Medical Ethics and Health Policy Staff Publications

The amounts of parasite DNA in soil samples from different playgrounds and other public areas can help identify areas of possible microbe transmission and give indications of the possible occurrence of parasite infection in nearby communities. We collected 207 soil samples from parks in Paiute indigenous tribal areas in southwestern Utah and from the higher income city of St. George, Utah, and tested them for 11 parasites that can cause human disease. Molecular tests revealed an elevated odds ratio (OR) of 3.072 (range, 1.114-8.065) for detecting the helminth Trichuris trichiura and an elevated OR of 3.036 (range, 1.101-7.966) for any …

Parental Descriptions Of Childhood Avoidance Symptoms After Trauma, Zoe Blair-Andrews, Alison Salloum, Stephanie Evans, Vicky Phares, Eric A Storch

Center for Medical Ethics and Health Policy Staff Publications

Recognizing and diagnosing the avoidance symptom cluster of posttraumatic stress disorder (PTSD) in young children has been challenging. This study examines caregivers' descriptions of young children's avoidance reactions. By describing parents' examples of childhood avoidance, clinicians, researchers, and educators may be able to provide more specific psychoeducation which may improve identification of avoidance behaviors in young children. Caregivers (N=73) of young children (age 3-7 years) participated in a semi-structured diagnostic clinical interview prior to enrolling in a clinical trial for childhood trauma. The assessment regarding the caregiver's description of the child's avoidance was audio recorded and transcribed for a thematic …

Case Sampling For Evaluating Hospital Postoperative Morbidity In Us Surgical Quality Improvement Programs, Vivi W Chen, Tracey Rosen, Yongquan Dong, Peter A Richardson, Jennifer R Kramer, Laura A Petersen, Nader N Massarweh

Center for Medical Ethics and Health Policy Staff Publications

Importance: US surgical quality improvement (QI) programs use data from a systematic sample of surgical cases, rather than universal review of all cases, to assess and compare risk-adjusted hospital postoperative complication rates. Given decreasing postoperative complication rates over time and the types of cases eligible for abstraction, it is unclear whether case sampling is robust for identifying hospitals with higher than expected complications.

Objective: To compare the assessment of hospital 30-day complication rates derived from sampling strategy used by some US surgical QI programs relative to universal review of all cases.

Design, setting, and participants: This US hospital-level analysis took …

Pretesting Discrete-Choice Experiments: A Guide For Researchers, Nicola B Campoamor, Christi J Guerrini, Whitney Bash Brooks, John F P Bridges, Norah L Crossnohere

Center for Medical Ethics and Health Policy Staff Publications

Discrete-choice experiments (DCEs) are a frequently used method to explore the preferences of patients and other decision-makers in health. Pretesting is an essential stage in the design of a high-quality choice experiment and involves engaging with representatives of the target population to improve the readability, presentation, and structure of the preference instrument. The goal of pretesting in DCEs is to improve the validity, reliability, and relevance of the survey, while decreasing sources of bias, burden, and error associated with preference elicitation, data collection, and interpretation of the data. Despite its value to inform DCE design, pretesting lacks documented good practices …

Building Effective Mentoring Relationships During Clinical Ethics Fellowships: Pedagogy, Programs, And People, Trevor M Bibler, Ryan H Nelson, Bryanna Moore, Janet Malek, Mary A Majumder

Center for Medical Ethics and Health Policy Staff Publications

How should clinical ethicists be trained? Scholars have stated that clinical ethics fellowships create well-trained, competent ethicists. While this appears intuitive, few features of fellowship programs have been publicly discussed, let alone debated. In this paper, we examine how fellowships can foster effective mentoring relationships. These relationships provide the foundation for the fellow's transition from novice to competent professional. In this essay, we begin by discussing our pedagogical commitments. Next, we describe the structures our program has created to assist our fellows in becoming competent ethicists. We then outline the kinds of knowledge, skills, and professional attributes mentors should possess. …

Evidence Review And Considerations For Use Of First Line Genome Sequencing To Diagnose Rare Genetic Disorders, Kristen M Wigby, Deanna Brockman, Gregory Costain, Caitlin Hale, Stacie L Taylor, John Belmont, David Bick, David Dimmock, Susan Fernbach, John Greally, Vaidehi Jobanputra, Shashikant Kulkarni, Elizabeth Spiteri, Ryan J Taft

Center for Medical Ethics and Health Policy Staff Publications

Early use of genome sequencing (GS) in the diagnostic odyssey can reduce suffering and improve care, but questions remain about which patient populations are most amenable to GS as a first-line diagnostic test. To address this, the Medical Genome Initiative conducted a literature review to identify appropriate clinical indications for GS. Studies published from January 2011 to August 2022 that reported on the diagnostic yield (DY) or clinical utility of GS were included. An exploratory meta-analysis using a random effects model evaluated DY based on cohort size and diagnosed cases per cohort. Seventy-one studies met inclusion criteria, comprising over 13,000 …

Determinants Of Referral Network Size For Screening Colonoscopies In The Veterans Health Administration After The Implementation Of The Mission Act, Chase S Eck, Vivian Ho, Cheng Jiang, Laura A Petersen

Center for Medical Ethics and Health Policy Staff Publications

Objective: To measure key characteristics of the Veterans Health Administration's (VHA) Community Care (CC) referral network for screening colonoscopy and identify market and institutional factors associated with network size.

Data sources: VHA electronic health records, CC claim data, and National Plan and Provider Enumeration System.

Study design: In this retrospective cross-sectional study, we measure the size of the VHA's CC referral networks over time and by VHA parent facility (n = 137). We used a multivariable linear regression to identify factors associated with network size at the market-year level. Network size was measured as the number of physicians who performed …

Gene-Specific Acmg/Amp Classification Criteria For Germline Apc Variants: Recommendations From The Clingen Insight Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel\, Isabel Spier, Xiaoyu Yin, Marcy Richardson, Marta Pineda, Andreas Laner, Deborah Ritter, Julie Boyle, Pilar Mur, Thomas V O Hansen, Xuemei Shi, Khalid Mahmood, John-Paul Plazzer, Elisabet Ognedal, Margareta Nordling, Susan M Farrington, Gou Yamamoto, Stéphanie Baert-Desurmont, Alexandra Martins, Ester Borras, Carli Tops, Erica Webb, Victoria Beshay, Maurizio Genuardi, Tina Pesaran, Gabriel Capellá, Sean V Tavtigian, Andrew Latchford, Ian M Frayling, Sharon E Plon, Marc Greenblatt, Finlay A Macrae, Stefan Aretz, Insight-Clingen Hereditary Colon Cancer/Polyposis Variant Curation Expert Panel

Center for Medical Ethics and Health Policy Staff Publications

Purpose: The Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel (VCEP) was established by the International Society for Gastrointestinal Hereditary Tumours and the Clinical Genome Resource, who set out to develop recommendations for the interpretation of germline APC variants underlying Familial Adenomatous Polyposis, the most frequent hereditary polyposis syndrome.

Methods: Through a rigorous process of database analysis, literature review, and expert elicitation, the APC VCEP derived gene-specific modifications to the ACMG/AMP (American College of Medical Genetics and Genomics and Association for Molecular Pathology) variant classification guidelines and validated such criteria through the pilot classification of 58 variants.

Results: The APC-specific criteria …

Risk Factors For Childhood Brain Tumours: A Systematic Review And Meta-Analysis Of Observational Studies From 1976 To 2022, Felix M Onyije, Roya Dolatkhah, Ann Olsson, Liacine Bouaoun, Isabelle Deltour, Friederike Erdmann, Audrey Bonaventure, Michael E Scheurer, Jacqueline Clavel, Joachim Schüz

Center for Medical Ethics and Health Policy Staff Publications

BACKGROUND: Childhood brain tumours (CBTs) are the leading cause of cancer death in children under the age of 20 years globally. Though the aetiology of CBT remains poorly understood, it is thought to be multifactorial. We aimed to synthesize potential risk factors for CBT to inform primary prevention.

METHODS: We conducted a systematic review and meta-analysis of epidemiological studies indexed in the PubMed, Web of Science, and Embase databases from the start of those resources through 27 July 2023. We included data from case-control or cohort studies that reported effect estimates for each risk factor around the time of conception, …

Utility Of A Low-Cost 3-D Printed Microscope For Evaluating Esophageal Biopsies, Daniel G Rosen, Evandro Sobroza De Mello, Sadhna Dhingra, Sanford M Dawsey, Joe Knapper, Richard Bowman, Sharmila Anandasabapathy

Center for Medical Ethics and Health Policy Staff Publications

In this manuscript we assessed the utility of a low-cost 3D printed microscope to evaluate esophageal biopsies. We conducted a comparative analysis between the traditional microscope and our 3-D printed microscope, utilizing a set of esophageal biopsy samples obtained from patients undergoing screening endoscopy. Two pathologists independently examined 30 esophageal biopsies by light microscopy and digital images obtained using a low-cost 3D printed microscope (Observer 1 and 2). The glass slide consensus diagnosis was compared to the findings of 2 additional pathologist who independently just reviewed the digital images (Observer 3 and 4). The intra-observer agreement was substantial to almost …

Veterans Health Administration Enrollees’ Choice Of Care Setting Relates To The Expansion Of Care Options: Evidence From Screening Colonoscopies Before And After The Mission Act, Chase S Eck, Cheng Jiang, Laura A Petersen

Center for Medical Ethics and Health Policy Staff Publications

Objective: To estimate whether those enrolled in the Veterans Health Administration (VHA) were less likely to use VHA-delivered colorectal cancer screening colonoscopies after the MISSION Act.

Data sources and study setting: Secondary data were collected on VHA-enrolled Veterans from FY2017-FY2021.

Study design: This retrospective cross-sectional study measured the volume and share of screening colonoscopies that were VHA-delivered over time and by drive time eligibility-defined as living more than 60 min away from the nearest VHA specialty-care clinic. We used a multivariable logistic regression to adjust for patient and facility factors.

Data extraction: Data were extracted for VHA enrollees (n = …

Should Secondary Pharmacogenomic Variants Be Actively Screened And Reported When Diagnostic Genome-Wide Sequencing Is Performed In A Child?, Jan M Friedman, Yvonne Bombard, Bruce Carleton, Amalia M Issa, Bartha Knoppers, Sharon E Plon, Vasiliki Rahimzadeh, Mary V Relling, Marc S Williams, Clara Van Karnebeek, Danya Vears, Martina C Cornel

Center for Medical Ethics and Health Policy Staff Publications

This white paper was prepared by the Global Alliance for Genomics and Health Regulatory and Ethics Work Stream's Pediatric Task Team to review and provide perspective with respect to ethical, legal, and social issues regarding the return of secondary pharmacogenomic variants in children who have a serious disease or developmental disorder and are undergoing exome or genome sequencing to identify a genetic cause of their condition. We discuss actively searching for and reporting pharmacogenetic/genomic variants in pediatric patients, different methods of returning secondary pharmacogenomic findings to the patient/parents and/or treating clinicians, maintaining these data in the patient's health record over …

The Million Veteran Program 1990-1991 Gulf War Era Survey: An Evaluation Of Veteran Response, Characteristics, And Representativeness Of The Gulf War Era Veteran Population, Kelly M Harrington, Rachel Quaden, Lea Steele, Drew A Helmer, Elizabeth R Hauser, Sarah T Ahmed, Mihaela Aslan, Krishnan Radhakrishnan, Jacqueline Honerlaw, Xuan-Mai T Nguyen, Sumitra Muralidhar, John Concato, Kelly Cho, J Michael Gaziano, Stacey B Whitbourne, On Behalf Of The Va Million Veteran Program

Center for Medical Ethics and Health Policy Staff Publications

To address gaps in understanding the pathophysiology of Gulf War Illness (GWI), the VA Million Veteran Program (MVP) developed and implemented a survey to MVP enrollees who served in the U.S. military during the 1990–1991 Persian Gulf War (GW). Eligible Veterans were invited via mail to complete a survey assessing health conditions as well as GW-specific deployment characteristics and exposures. We evaluated the representativeness of this GW-era cohort relative to the broader population by comparing demographic, military, and health characteristics between respondents and non-respondents, as well as with all GW-era Veterans who have used Veterans Health Administration (VHA) services and …

The Determinants Of Nonprofit Hospital Ceo Compensation, Derek Jenkins, Marah N Short, Vivian Ho

Center for Medical Ethics and Health Policy Staff Publications

Hospital CEO salaries have grown quickly over the past two decades. We investigate correlates of rising nonprofit hospital CEO pay between 2012 and 2019 by merging compensation data from Candid's IRS 990 forms with hospital data from the National Academy for State Health Policy Hospital Cost Tool. Almost half of the measured increase in CEO compensation (44.5%) accrued to a "base case" CEO, who was leading a non-teaching hospital system or independent hospital with fewer than 100 beds that earned 0 profits and provided no charity care. Another 28.5% of the measured salary increase resulted from changes in the generosity …

A Use Case Of Chatgpt: Summary Of An Expert Panel Discussion On Electronic Health Records And Implementation Science, Seppo T Rinne, Julian Brunner, Timothy P Hogan, Jacqueline M Ferguson, Drew A Helmer, Sylvia J Hysong, Grace Mckee, Amanda Midboe, Megan E Shepherd-Banigan, A Rani Elwy

Center for Medical Ethics and Health Policy Staff Publications

Objective: Artificial intelligence (AI) is revolutionizing healthcare, but less is known about how it may facilitate methodological innovations in research settings. In this manuscript, we describe a novel use of AI in summarizing and reporting qualitative data generated from an expert panel discussion about the role of electronic health records (EHRs) in implementation science.

Materials and methods: 15 implementation scientists participated in an hour-long expert panel discussion addressing how EHRs can support implementation strategies, measure implementation outcomes, and influence implementation science. Notes from the discussion were synthesized by ChatGPT (a large language model-LLM) to generate a manuscript summarizing the discussion, …

Study Protocol For Measuring Stigmatization In Persistent Tic Disorders: Development And Validation Of The Tourette Discrimination-Stigmatization Scale, Jaclyn M Martindale, Victor M Ringheanu, Kelly A Pring, Sandra Norona, Kimberly Wiseman, Roy E Strowd, Leah Chapman, Joseph Rigdon, Stephen R Rapp, Eric A Storch, Edward Ip, Jonathan W Mink

Center for Medical Ethics and Health Policy Staff Publications

Introduction: Persistent Tic Disorders such as Tourette Syndrome are common neurodevelopmental disorders that are highly stigmatized. Many individuals with Persistent Tic Disorders experience peer rejection, loneliness, and self-stigma. Experiencing stigmatization during childhood can influence the persistence of moderate-to-severe tics later in life. Additionally, these factors have been associated with increased suicidal ideation, suicide attempts, and psychiatric symptom severity. There is a need for interventions to reduce stigma and stigmatization in Persistent Tic Disorders. Before developing cost-effective interventions to mitigate stigma's profound downstream health impacts, a reliable measure of stigmatization must be created. The overarching goal of this research is to …

Public Perspectives On Investigative Genetic Genealogy: Findings From A National Focus Group Study, Jacklyn Dahlquist, Jill O Robinson, Amira Daoud, Whitney Bash-Brooks, Amy L Mcguire, Christi J Guerrini, Stephanie M Fullerton

Center for Medical Ethics and Health Policy Staff Publications

Background: Investigative genetic genealogy (IGG) is a technique that involves uploading genotypes developed from perpetrator DNA left at a crime scene, or DNA from unidentified remains, to public genetic genealogy databases to identify genetic relatives and, through the creation of a family tree, the individual who was the source of the DNA. As policymakers demonstrate interest in regulating IGG, it is important to understand public perspectives on IGG to determine whether proposed policies are aligned with public attitudes.

Methods: We conducted eight focus groups with members of the public (N = 72), sampled from four geographically diverse US regions, …

Clinical Characteristics Of Probands With Obsessive-Compulsive Disorder From Simplex And Multiplex Families, Monicke O Lima, Leonardo C Saraiva, Vanessa R Ramos, Melaine C Oliveira, Daniel L C Costa, Brazilian Research Consortium On Obsessive-Compulsive Spectrum Disorders, Thomas V Fernandez, James J Crowley, Eric A Storch, Roseli G Shavitt, Euripedes C Miguel, Carolina Cappi

Center for Medical Ethics and Health Policy Staff Publications

Genetic and non-genetic factors contribute to obsessive-compulsive disorder (OCD), with strong evidence of familial clustering. Genomic studies in psychiatry have used the concepts of families that are "simplex" (one affected) versus "multiplex" (multiple affected). Our study compares demographic and clinical data from OCD probands in simplex and multiplex families to uncover potential differences. We analyzed 994 OCD probands (501 multiplex, 493 simplex) from the Brazilian Research Consortium on Obsessive-Compulsive Spectrum Disorders (C-TOC). Clinicians administered the Structured Clinical Interview for DSM-IV (SCID-IV) to diagnose, Yale-Brown Obsessive-Compulsive Scale (Y-BOCS) to assess severity, and Dimensional Yale-Brown Obsessive-Compulsive Scale (DY-BOCS) to assess symptom dimensionality. …