Medical Genetics Commons^™

Adolescent And Caregiver Preparation For Legal Changes At Age 18, Blanca Sanchez-Fournier, Jordyn Babla, Mary Majumder, Beth H Garland, Constance M Wiemann, Albert C Hergenroeder

Center for Medical Ethics and Health Policy Staff Publications

Background: Most adolescents with special healthcare needs (ASHCN) will assume legal responsibility for making decisions about their medical treatment at age 18. Simultaneously, parents or other legal representatives (Caregivers) will lose ASHCN medical record access. This study examined ASHCN and Caregiver knowledge of, satisfaction with, and suggestions for improvement in preparing for these changes.

Methods: Eighty-three dyads (18-year-old ASHCN and Caregivers) completed an assessment to evaluate their knowledge about changes in responsibility for decision making with a focus on consent, satisfaction with the preparation received, and recommendations for improved preparation. Descriptive statistics and mean comparisons were used. Responses to open-ended …

Advancing Medical Applications Of Cancer Nanotechnology: Highlighting Two Decades Of The Nci's Nanotechnology Characterization Laboratory Service To The Research Community, Rachael M Crist, Yechezkel Barenholz, Ahuva Cern, Kate N Clark, Pieter R Cullis, Cheryl Dean, Neil Desai, Mauro Ferrari, Matthieu Germain, Carmen A Giacomantonio, Emma Grabarnik, Piotr Grodzinski, Atara Hod, Barry E Kennedy, Ruvanthi N Kularatne, Glen S Kwon, Emmanuel Loeb, Erin B Noftall, Len Pagliaro, Morteza Rasoulianboroujeni, Alexander Roth, Darren Rowles, Kulbir Singh, Nicole F Steinmetz, Zhanna Yehtina, Yao Zhang, Daniel Zilbersheid, Jeffrey D Clogston, Stephan T Stern, Marina A Dobrovolskaia

Center for Medical Ethics and Health Policy Staff Publications

The Nanotechnology Characterization Laboratory (NCL) is a US federally funded resource providing characterization and expertise to the cancer nanomedicine research community. Founded as a formal partnership among the US National Cancer Institute (NCI), the US Food and Drug Administration (FDA), and the US National Institute of Standards and Technology (NIST), the NCL has spent two decades developing a one-of-a-kind service with broad multidisciplinary expertise to meet the needs of a rapidly evolving drug development field. To mark the 20th anniversary of the lab's founding, the NCL hosted a symposium to highlight the achievements of the cancer nanomedicine field, showcase novel, …

Impact Of Personalized Risk Scores On Shared Decision Making In Left Ventricular Assist Device Implantation: Findings From A Qualitative Study, Holland Kaplan, Kristin Kostick-Quenet, Benjamin Lang, Robert J Volk, Jennifer Blumenthal-Barby

Center for Medical Ethics and Health Policy Staff Publications

Objective: To assess stakeholders' perspectives on integrating personalized risk scores (PRS) into left ventricular assist device (LVAD) implantation decisions and how these perspectives might impact shared decision making (SDM).

Methods: We conducted 40 in-depth interviews with physicians, nurse coordinators, patients, and caregivers about integrating PRS into LVAD implantation decisions. A codebook was developed to identify thematic patterns, and quotations were consolidated for analysis. We used Thematic Content Analysis in MAXQDA software to identify themes by abstracting relevant quotes.

Results: Clinicians had varying preferences regarding PRS integration into LVAD decision making, while patients and caregivers preferred real-time discussions about PRS with …

Deep Brain Stimulation For Childhood Treatment-Resistant Obsessive-Compulsive Disorder: Mental Health Clinician Views On Candidacy Factors, Ilona Cenolli, Tiffany A Campbell, Natalie Dorfman, Meghan Hurley, Jared N Smith, Kristin Kostick-Quenet, Eric A Storch, Jennifer Blumenthal-Barby, Gabriel Lázaro-Muñoz

Center for Medical Ethics and Health Policy Staff Publications

Introduction: Deep brain stimulation (DBS) is approved under a humanitarian device exemption to manage treatment-resistant obsessive-compulsive disorder (TR-OCD) in adults. It is possible that DBS may be trialed or used clinically off-label in children and adolescents with TR-OCD in the future. DBS is already used to manage treatment-resistant childhood dystonia. Evidence suggests it is a safe and effective intervention for certain types of dystonia. Important questions remain unanswered about the use of DBS in children and adolescents with TR-OCD, including whether mental health clinicians would refer pediatric patients for DBS, and who would be a good candidate for DBS.

Objectives: …

A Landscape Analysis Of Psychedelic Retreat Organizations Advertising Online, Logan Neitzke-Spruill, Caroline S Beit, Jill Oliver Robinson, Nikita Singh, Srijith Kambala, Rishi Ramesh, Amy L Mcguire

Center for Medical Ethics and Health Policy Staff Publications

Research into psychedelics' clinical potential has corresponded to a growth in public interest and adult use. One common pathway to accessing psychedelics is through psychedelic retreats. While individual retreats have been characterized in the anthropological literature, no systematic evaluation of the psychedelic retreat industry exists. Assessing the characteristics of the psychedelic retreat industry is critical to understanding the associated ethical, legal, and social implications and ensuring consumer safety. To this end, we conducted a landscape analysis of online, publicly available information to capture and characterize a broad range of organizations offering psychedelic retreats and marketing to English-speaking consumers. From July …

Patient-Centric Federated Learning: Automating Meaningful Consent To Health Data Sharing With Smart Contracts, Kristin M Kostick-Quenet, Marcelo Corrales Compagnucci, Mateo Aboy, Timo Minssen

Center for Medical Ethics and Health Policy Staff Publications

Federated Learning (FL) promises to enhance data-driven health research by enabling collaborative machine learning across distributed datasets without direct data exchange. However, current FL implementations primarily reflect the data-sharing interests of institutional controllers rather than those of individual patients whose data are at stake. Existing consent mechanisms-like broad consent under HIPAA or explicit consent under the GDPR-fail to provide patients with control over how their data is used. This article explores the integration of smart contracts (SCs) into FL as a mechanism for automating, enforcing, and documenting consent in data transactions. SCs, encoded in decentralized ledger technologies, can ensure that …

Health Equity Innovation In Precision Medicine: Data Stewardship And Agency To Expand Representation In Clinicogenomics, Patrick J Silva, Vasiliki Rahimzadeh, Reid Powell, Junaid Husain, Scott Grossman, Adam Hansen, Jennifer Hinkel, Rafael Rosengarten, Marcia G Ory, Kenneth S Ramos

Center for Medical Ethics and Health Policy Staff Publications

Most forms of clinical research examine a very minute cross section of the patient journey. Much of the knowledge and evidence base driving current genomic medicine practice entails blind spots arising from underrepresentation and lack of research participation in clinicogenomic databases. The flaws are perpetuated in AI models and clinical practice guidelines that reflect the lack of diversity in data being used. Participation in clinical research and biobanks is impeded in many populations due to a variety of factors that include knowledge, trust, healthcare access, administrative barriers, and technology gaps. A recent symposium brought industry, clinical, and research participants in …

Association Of Common And Rare Variants With Alzheimer’S Disease In More Than 13,000 Diverse Individuals With Whole-Genome Sequencing From The Alzheimer’S Disease Sequencing Project, Wan-Ping Lee, Seung Hoan Choi, Margaret G Shea, Po-Liang Cheng, Beth A Dombroski, Achilleas N Pitsillides, Nancy L Heard-Costa, Hui Wang, Katia Bulekova, Amanda B Kuzma, Yuk Yee Leung, John J Farrell, Honghuang Lin, Brian W Kunkle, Adam Naj, Elizabeth E Blue, Frederick Nusetor, Dongyu Wang, Eric Boerwinkle, William S Bush, Xiaoling Zhang, Philip L De Jager, Josée Dupuis, Lindsay A Farrer, Myriam Fornage, Eden Martin, Margaret Pericak-Vance, Sudha Seshadri, Ellen M Wijsman, Li-San Wang, Alzheimer's Disease Sequencing Project, Gerard D Schellenberg, Anita L Destefano, Jonathan L Haines, Gina M Peloso

Center for Medical Ethics and Health Policy Staff Publications

Introduction: Alzheimer's disease (AD) is a common disorder of the elderly that is both highly heritable and genetically heterogeneous.

Methods: We investigated the association of AD with both common variants and aggregates of rare coding and non-coding variants in 13,371 individuals of diverse ancestry with whole genome sequencing (WGS) data.

Results: Pooled-population analyses of all individuals identified genetic variants at apolipoprotein E (APOE) and BIN1 associated with AD (p < 5 × 10-8). Subgroup-specific analyses identified a haplotype on chromosome 14 including PSEN1 associated with AD in Hispanics, further supported by aggregate testing of rare coding and non-coding variants in the region. Common variants in LINC00320 were observed associated with AD in Black individuals (p = 1.9 × 10-9). Finally, we observed rare non-coding variants in the promoter of TOMM40 distinct of APOE in pooled-population analyses (p = 7.2 × 10-8).

Discussion: We observed that complementary pooled-population and subgroup-specific analyses offered unique insights into the genetic architecture of AD.

Highlights: We determine the association of genetic variants with Alzheimer's disease (AD) using …

Incorporating An Analytical Approach To Ethical Reasoning Into An Ethics Case Conference For Residents, Holland Kaplan, Alyssa Kahl, Jonathan Lim

Center for Medical Ethics and Health Policy Staff Publications

Educating residents to apply ethical principles in clinical practice is critical in achieving standards in professionalism. We implemented biweekly ethics morning report case conferences incorporating a validated analytical tool in medical ethics, the Four-Box Method, from July 2022 to June 2023 in our internal medicine residency program. In 24 ethics morning reports, over 73% of participants reported that the intervention helped them achieve each of three learning objectives in ethics education. Ninety-two percent of cases addressed > 1 ethical issue. Our intervention may be easily integrated into the morning report conference structure as an educational tool in medical ethics across internal …

Update On Recommendations For Cancer Screening And Surveillance In Children With Genomic Instability Disorders, Yoshiko Nakano, Roland P Kuiper, Kim E Nichols, Christopher C Porter, Harry Lesmana, Julia Meade, Christian P Kratz, Lucy A Godley, Luke D Maese, Maria Isabel Achatz, Payal P Khincha, Sharon A Savage, Andrea S Doria, Mary-Louise C Greer, Vivian Y Chang, Lisa L Wang, Sharon E Plon, Michael F Walsh

Center for Medical Ethics and Health Policy Staff Publications

Genomic instability disorders are characterized by DNA or chromosomal instability, resulting in various clinical manifestations, including developmental anomalies, immunodeficiency, and increased risk of developing cancers beginning in childhood. Many of these genomic instability disorders also present with exquisite sensitivity to anticancer treatments such as ionizing radiation and chemotherapy, which may further increase the risk of second cancers. In July 2023, the American Association for Cancer Research held the second Childhood Cancer Predisposition Workshop, where multidisciplinary international experts discussed, reviewed, and updated recommendations for children with cancer predisposition syndromes. This article discusses childhood cancer risks and surveillance recommendations for the group …

Measuring Perceived Utility Of Genomic Sequencing: Development And Validation Of The Genetic Utility (Gene-U) Scale For Adult Screening, Hadley Stevens Smith, Caryn Kseniya Rubanovich, Jill Oliver Robinson, Ariel N Levchenko, Sarah A Classen, Janet Malek, Adam H Buchanan, Barbara Biesecker, Kyle B Brothers, Benjamin S Wilfond, Christine Rini, Cinnamon S Bloss, Amy L Mcguire, Sara J Knight

Center for Medical Ethics and Health Policy Staff Publications

Purpose: As population-based screening programs to identify genetic conditions in adults using genomic sequencing (GS) are increasingly available, validated patient-centered outcome measures are needed to understand participants' experience. We aimed to develop and validate an instrument to assess the perceived utility of GS in the context of adult screening.

Methods: Informed by a 5-domain conceptual model, we used a 5-step approach to instrument development and validation: (1) item writing, (2) cognitive testing, (3) pilot testing and item reduction, (4) psychometric testing, and (5) evaluation of construct validity. Adults undergoing risk-based or population-based GS who had received GS results as part …

How Do Parents Decide On Genetic Testing In Pediatrics? A Systematic Review, Hadley Stevens Smith, Bethany Zettler, Casie A Genetti, Madison R Hickingbotham, Tanner F Coleman, Matthew Lebo, Anna Nagy, Hana Zouk, Lisa Mahanta, Kurt D Christensen, Stacey Pereira, Nidhi D Shah, Nina B Gold, Sheyenne Walmsley, Sarita Edwards, Ramin Homayouni, Graham P Krasan, Hakon Hakonarson, Carol R Horowitz, Bruce D Gelb, Bruce R Korf, Amy L Mcguire, Ingrid A Holm, Robert C Green

Center for Medical Ethics and Health Policy Staff Publications

Efforts to implement and evaluate genome sequencing (GS) as a screening tool for newborns and infants are expanding worldwide. The first iteration of the BabySeq Project (2015-2019), a randomized controlled trial of newborn sequencing, produced novel evidence on medical, behavioral, and economic outcomes. The second iteration of BabySeq, which began participant recruitment in January 2023, examines GS outcomes in a larger, more diverse cohort of more than 500 infants up to one year of age recruited from pediatric clinics at several sites across the United States. The trial aims for families who self-identify as Black/African American or Hispanic/Latino to make …

Racial Equity, Diversity And Inclusion In Bioethics: Recommendations From The Association Of Bioethics Program Directors Presidential Task Force, Sandra Soo-Jin Lee, Alexis Walker, Shawneequa L Callier, Faith E Fletcher, Charlene Galarneau, Nanibaa' Garrison, Jennifer E James, Renee Mcleod-Sordjan, Ubaka Ogbogu, Nneka Sederstrom, Patrick T Smith, Clarence H Braddock, Christine Mitchell

Center for Medical Ethics and Health Policy Staff Publications

Recent calls to address racism in bioethics reflect a sense of urgency to mitigate the lethal effects of a lack of action. While the field was catalyzed largely in response to pivotal events deeply rooted in racism and other structures of oppression embedded in research and health care, it has failed to center racial justice in its scholarship, pedagogy, advocacy, and practice, and neglected to integrate anti-racism as a central consideration. Academic bioethics programs play a key role in determining the field's norms and practices, including methodologies, funding priorities, and professional networks that bear on equity, inclusion, and epistemic justice. …

Qualitative Investigation Of School Experiences In Children With Osteogenesis Imperfecta, Julia M Morales, Andrew D Wiese, Whitney S Shepherd, Gianna M Colombo, Selena Guo, Justin Qian, W Conor Rork, Hannah Cho, Kristin M Kostick-Quenet, Dianne Nguyen, Erin M Carter, Michelle L Fynan, Members Of The Bbdc, Chaya N Murali, Marie-Eve Robinson, Sophie C Schneider, Brendan Lee, V Reid Sutton, Eric A Storch

Center for Medical Ethics and Health Policy Staff Publications

Osteogenesis imperfecta (OI) is a rare genetic chronic condition leading to fragile bones and frequent bone fractures with wide-reaching health implications. Current literature suggests that children with chronic diseases face unique challenges at school, yet research regarding educational concerns among those with OI is limited. The present study involved qualitative analysis of semi-structured interviews with 10 children with OI and 12 caregivers of a child with OI. Children and caregivers participated in the interviews individually; they were not dyads of participants. Half of the caregivers who participated had OI themselves. The interviews were coded, and six themes were identified: (1) …

Psychiatric Polygenic Risk Scores: Experience, Hope For Utility, And Concerns Among Child And Adolescent Psychiatrists, Amanda R Merner, Page M Trotter, Lauren A Ginn, Jason Bach, Katherine J Freedberg, Takahiro Soda, Eric A Storch, Stacey Pereira, Gabriel Lázaro-Muñoz

Center for Medical Ethics and Health Policy Staff Publications

Recent advances in psychiatric genetics have enabled the use of polygenic risk scores (PRS) to estimate genetic risk for psychiatric disorders. However, the potential use of PRS in child and adolescent psychiatry has raised concerns. This study provides an in-depth examination of attitudes among child and adolescent psychiatrists (CAP) regarding the use of PRS in psychiatry. We conducted semi-structured interviews with U.S.-based CAP (n=29) who possess expertise in genetics. The majority of CAP indicated that PRS have limited clinical utility in their current form and are not ready for clinical implementation. Most clinicians stated that nothing would motivate them to …

Large-Scale Genotype Prediction From Rna Sequence Data Necessitates A New Ethical And Policy Framework, Mary A Majumder, Jeffrey T Leek, Kasper D Hansen, Afrooz Razi, Amy L Mcguire

Center for Medical Ethics and Health Policy Staff Publications

Genotype prediction from RNA-seq data has become widespread. RNA-seq data, unlike DNA-seq data, are available as raw reads for many projects, with related protocols and consent terms typically inaccessible. However, there is a lack of clarity in current policy and inconsistency in practice with regard to the handling of these data. Here, we call for a framework for management of RNA-seq data and the predicted genotypes that includes registered access for RNA-seq data, controlled access for predicted genotypes, and a code of conduct for data access and use, as well as enhanced downstream protections.

Post-Trial Responsibilities In Pragmatic Clinical Trials: Fulfilling The Promise Of Research To Drive Real-World Change, Stephanie R Morain, P Pearl O'Rourke, Joseph Ali, Vasiliki Rahimzadeh, Devon K Check, Hayden B Bosworth, Jeremy Sugarman

Center for Medical Ethics and Health Policy Staff Publications

While considerable scholarship has explored responsibilities owed to research participants at the conclusion of explanatory clinical trials, no guidance exists regarding responsibilities owed at the conclusion of a pragmatic clinical trial (PCT). Yet post-trial responsibilities in PCTs present distinct considerations from those emphasized in existing guidance and prior scholarship. Among these considerations include the responsibilities of the healthcare delivery systems in which PCTs are embedded, and decisions about implementation for interventions that demonstrate meaningful benefit following their integration into usual care settings-or deimplementation for those that fail to do so. In this article, we present an overview of prior scholarship …

A Risk Is Not A Harm: Abortion Exceptions In State Laws, Trevor M Bibler, Alison Suen

Center for Medical Ethics and Health Policy Staff Publications

This letter responds to the article "Beneath the Sword of Damocles: Moral Obligations of Physicians in a Post-Dobbs Landscape," by Anne Drapkin Lyerly, Ruth R. Faden, and Michelle M. Mello, in the May-June 2024 issue of the Hastings Center Report.

Addressing Or Reinforcing Injustice? Artificial Amnion And Placenta Technology, Loss-Sensitive Care And Racial Inequities In Preterm Birth, Sophie L Schott, Faith Fletcher, Alice Story, April Adams

Center for Medical Ethics and Health Policy Staff Publications

No abstract provided.

A Qualitative Interview Study To Determine Barriers And Facilitators Of Implementing Automated Decision Support Tools For Genomic Data Access, Vasiliki Rahimzadeh, Jinyoung Baek, Jonathan Lawson, Edward S Dove

Center for Medical Ethics and Health Policy Staff Publications

Data access committees (DAC) gatekeep access to secured genomic and related health datasets yet are challenged to keep pace with the rising volume and complexity of data generation. Automated decision support (ADS) systems have been shown to support consistency, compliance, and coordination of data access review decisions. However, we lack understanding of how DAC members perceive the value add of ADS, if any, on the quality and effectiveness of their reviews. In this qualitative study, we report findings from 13 semi-structured interviews with DAC members from around the world to identify relevant barriers and facilitators to implementing ADS for genomic …

Advancing Genomics To Improve Health Equity, Ebony B Madden, Lucia A Hindorff, Vence L Bonham, Tabia Henry Akintobi, Esteban G Burchard, Kellan E Baker, Rene L Begay, John D Carpten, Nancy J Cox, Valentina Di Francesco, Denise A Dillard, Faith E Fletcher, Stephanie M Fullerton, Nanibaa' A Garrison, Catherine M Hammack-Aviran, Vanessa Y Hiratsuka, James E K Hildreth, Carol R Horowitz, Chanita A Hughes Halbert, Michael Inouye, Amber Jackson, Latrice G Landry, Rick A Kittles, Jeff T Leek, Nita A Limdi, Nicole C Lockhart, Elizabeth O Ofili, Eliseo J Pérez-Stable, Maya Sabatello, Loren Saulsberry, Lorjetta E Schools, Jennifer L Troyer, Benjamin S Wilfond, Genevieve L Wojcik, Judy H Cho, Sandra S-J Lee, Eric D Green

Center for Medical Ethics and Health Policy Staff Publications

Health equity is the state in which everyone has fair and just opportunities to attain their highest level of health. The field of human genomics has fallen short in increasing health equity, largely because the diversity of the human population has been inadequately reflected among participants of genomics research. This lack of diversity leads to disparities that can have scientific and clinical consequences. Achieving health equity related to genomics will require greater effort in addressing inequities within the field. As part of the commitment of the National Human Genome Research Institute (NHGRI) to advancing health equity, it convened experts in …

Patient Interest In And Clinician Reservations On Polygenic Embryo Screening: A Qualitative Study Of Stakeholder Perspectives, D Barlevy, I Cenolli, T Campbell, R Furrer, M Mukherjee, K Kostick-Quenet, S Carmi, T Lencz, G Lázaro-Muñoz, S Pereira

Center for Medical Ethics and Health Policy Staff Publications

Purpose: We explored and compared perspectives of reproductive endocrinology and infertility specialists (REIs) and in vitro fertilization (IVF) patients regarding polygenic embryo screening (PES), a new type of preimplantation screening that estimates the genetic chances of developing polygenic conditions and traits in the future.

Methods: Qualitative thematic analysis of semi-structured interviews with US-based REIs and IVF patients.

Results: Clinicians and patients often held favorable views of screening embryos for physical or psychiatric conditions, though clinicians tended to temper their positive attitudes with specific caveats. Clinicians also expressed negative views about screening embryos for traits more frequently than patients, who generally …

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 …

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 …

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 …