Bioethics and Medical Ethics Commons^™

A Meta-Analysis Of Diagnostic Yield And Clinical Utility Of Genome And Exome Sequencing In Pediatric Rare And Undiagnosed Genetic Diseases, Rajshree Pandey, Noemi Fluetsch Brennan, Kalliopi Trachana, Sarah Katsandres, Olaf Bodamer, John Belmont, David L Veenstra, Siyang Peng

Center for Medical Ethics and Health Policy Staff Publications

Purpose: To systematically evaluate the diagnostic yield and clinical utility of genome sequencing (GS) and exome sequencing (ES; genome-wide sequencing [GWS]) in pediatric patients with rare and undiagnosed genetic diseases.

Methods: We conducted a meta-analysis of studies published between 2011 and 2023. To address study heterogeneity, comparative analyses included within-cohort studies using random-effects models.

Results: We identified 108 studies including 24,631 probands with diverse clinical indications. The pooled diagnostic yield among within-cohort studies (N = 13) for GWS was 34.2% (95% CI: 27.6-41.5; I2: 86%) vs 18.1% (95% CI: 13.1-24.6; I2: 89%) for non-GWS, with 2.4-times odds of diagnosis (95% …

Genome-Wide Analyses Identify 30 Loci Associated With Obsessive-Compulsive Disorder, Nora I Strom, Zachary F Gerring, Marco Galimberti, Dongmei Yu, Matthew W Halvorsen, Abdel Abdellaoui, Cristina Rodriguez-Fontenla, Julia M Sealock, Tim Bigdeli, Jonathan R Coleman, Behrang Mahjani, Jackson G Thorp, Katharina Bey, Christie L Burton, Jurjen J Luykx, Gwyneth Zai, Silvia Alemany, Christine Andre, Kathleen D Askland, Julia Bäckman, Nerisa Banaj, Cristina Barlassina, Judith Becker Nissen, O Joseph Bienvenu, Donald Black, Michael H Bloch, Sigrid Børte, Rosa Bosch, Michael Breen, Brian P Brennan, Helena Brentani, Joseph D Buxbaum, Jonas Bybjerg-Grauholm, Enda M Byrne, Judit Cabana-Dominguez, Beatriz Camarena, Adrian Camarena, Carolina Cappi, Angel Carracedo, Miguel Casas, Maria Cristina Cavallini, Valentina Ciullo, Edwin H Cook, Jesse Crosby, Bernadette A Cullen, Elles J De Schipper, Richard Delorme, Srdjan Djurovic, Jason A Elias, Xavier Estivill, Martha J Falkenstein, Bengt T Fundin, Lauryn Garner, Christina Gironda, Fernando S Goes, Marco A Grados, Jakob Grove, Wei Guo, Jan Haavik, Kristen Hagen, Kelly Harrington, Alexandra Havdahl, Kira D Höffler, Ana G Hounie, Donald Hucks, Christina Hultman, Magdalena Janecka, Eric Jenike, Elinor K Karlsson, Kara Kelley, Julia Klawohn, Janice E Krasnow, Kristi Krebs, Christoph Lange, Nuria Lanzagorta, Daniel Levey, Kerstin Lindblad-Toh, Fabio Macciardi, Brion Maher, Brittany Mathes, Evonne Mcarthur, Nathaniel Mcgregor, Nicole C Mclaughlin, Sandra Meier, Euripedes C Miguel, Maureen Mulhern, Paul S Nestadt, Erika L Nurmi, Kevin S O'Connell, Lisa Osiecki, Olga Therese Ousdal, Teemu Palviainen, Nancy L Pedersen, Fabrizio Piras, Federica Piras, Sriramya Potluri, Raquel Rabionet, Alfredo Ramirez, Scott Rauch, Abraham Reichenberg, Mark A Riddle, Stephan Ripke, Maria C Rosário, Aline S Sampaio, Miriam A Schiele, Anne Heidi Skogholt, Laura G Sloofman, Jan Smit, María Soler Artigas, Laurent F Thomas, Eric Tifft, Homero Vallada, Nathanial Van Kirk, Jeremy Veenstra-Vanderweele, Nienke N Vulink, Christopher P Walker, Ying Wang, Jens R Wendland, Bendik S Winsvold, Yin Yao, Hang Zhou, Estonian Biobank, 23andme Inc, Arpana Agrawal, Pino Alonso, Götz Berberich, Kathleen K Bucholz, Cynthia M Bulik, Danielle Cath, Damiaan Denys, Valsamma Eapen, Howard Edenberg, Peter Falkai, Thomas V Fernandez, Abby J Fyer, J M Gaziano, Dan A Geller, Hans J Grabe, Benjamin D Greenberg, Gregory L Hanna, Ian B Hickie, David M Hougaard, Norbert Kathmann, James Kennedy, Dongbing Lai, Mikael Landén, Stéphanie Le Hellard, Marion Leboyer, Christine Lochner, James T Mccracken, Sarah E Medland, Preben B Mortensen, Benjamin M Neale, Humberto Nicolini, Merete Nordentoft, Michele Pato, Carlos Pato, David L Pauls, John Piacentini, Christopher Pittenger, Danielle Posthuma, Josep Antoni Ramos-Quiroga, Steven A Rasmussen, Margaret A Richter, David R Rosenberg, Stephan Ruhrmann, Jack F Samuels, Sven Sandin, Paul Sandor, Gianfranco Spalletta, Dan J Stein, S Evelyn Stewart, Eric A Storch, Barbara E Stranger, Maurizio Turiel, Thomas Werge, Ole A Andreassen, Anders D Børglum, Susanne Walitza, Kristian Hveem, Bjarne K Hansen, Christian Rück, Nicholas G Martin, Lili Milani, Ole Mors, Ted Reichborn-Kjennerud, Marta Ribasés, Gerd Kvale, David Mataix-Cols, Katharina Domschke, Edna Grünblatt, Michael Wagner, John-Anker Zwart, Gerome Breen, Gerald Nestadt, Jaakko Kaprio, Paul D Arnold, Dorothy E Grice, James A Knowles, Helga Ask, Karin J Verweij, Lea K Davis, Dirk J Smit, James J Crowley, Jeremiah M Scharf, Murray B Stein, Joel Gelernter, Carol A Mathews, Eske M Derks, Manuel Mattheisen

Center for Medical Ethics and Health Policy Staff Publications

Obsessive-compulsive disorder (OCD) affects ~1% of children and adults and is partly caused by genetic factors. We conducted a genome-wide association study (GWAS) meta-analysis combining 53,660 OCD cases and 2,044,417 controls and identified 30 independent genome-wide significant loci. Gene-based approaches identified 249 potential effector genes for OCD, with 25 of these classified as the most likely causal candidates, including WDR6, DALRD3 and CTNND1 and multiple genes in the major histocompatibility complex (MHC) region. We estimated that ~11,500 genetic variants explained 90% of OCD genetic heritability. OCD genetic risk was associated with excitatory neurons in the hippocampus and the cortex, along …

Promises And Pitfalls Of Preimplantation Genetic Testing For Polygenic Disorders: A Narrative Review, Jaime A Roura-Monllor, Zachary Walker, Joel M Reynolds, Greysha Rivera-Cruz, Avner Hershlag, Gheona Altarescu, Sigal Klipstein, Stacey Pereira, Gabriel Lázaro-Muñoz, Shai Carmi, Todd Lencz, Ruth Bunker Lathi

Center for Medical Ethics and Health Policy Staff Publications

Preimplantation genetic testing for polygenic disorders (PGT-P) has been commercially available since 2019. PGT-P makes use of polygenic risk scores for conditions which are multifactorial and are significantly influenced by environmental and lifestyle factors. If current predictions are accurate, then absolute risk reductions range from about 0.02% to 10.1%, meaning that between 10 and 5,000 in vitro fertilization patients would need to be tested with PGT-P to prevent one offspring from becoming affected in the future, depending on the condition and the number of embryos available. Survey and interview data reveal that patients and the public have largely favorable views …

It Is Not Clear How Well Physical Activity Promotion Materials Are Understood: Findings From A Rapid Literature Review, Jafra D. Thomas, Jasmine C. Wong, Regina F. Hockert, Yi Sheng Wu, Winston Kennedy

Topics in Exercise Science and Kinesiology

Topics in Exercise Science and Kinesiology Volume 6: Issue 1, Article 6, 2025. Efforts to promote physical activity and other health-related behaviors are more effective when resource materials are understood by a wide and diverse audience. Before our lab’s previous investigations (Thomas et al., 2024), only one study seemed to use the cloze procedure to directly test the comprehension (i.e., readability) of physical activity promotion material (Cardinal & Seidler, 1995). Thus, this rapid literature review sought to (a) determine the extent the cloze procedure has been used to study physical activity promotion material comprehension in lay adults and (b) collate …

Navigating The Future Of Polygenic Risk Scores: Insights From Child And Adolescent Psychiatrists, Page M Trotter, Amanda R Merner, Lauren A Ginn, Abigail C Martinez, Ana L Battaglino, Kaitlynn P Craig, Jason Bach, Katherine J Freedberg, Takahiro Soda, Eric A Storch, Gabriel Lázaro-Muñoz, Stacey Pereira

Center for Medical Ethics and Health Policy Staff Publications

Polygenic risk scores (PRS) are a method of calculating genetic risk for polygenic, or multi-gene, disorders. These scores have potential impacts in the realm of child and adolescent psychiatry, given the high prevalence of psychiatric disorders among youth. However, there are concerns about PRS implementation among key stakeholders, namely child and adolescent psychiatrists (CAP). We conducted interviews with 29 U.S.-based CAP to investigate clinician attitudes toward the use of PRS. The data herein correspond to a future scenario we provided CAP in which PRS are accurate and portable to patients of different racial and ethnic backgrounds. We found that CAP …

Science Tikkun: A Bioscience Pandemic Framework In A Hebrew Tradition Of Global Repair, Peter Hotez

Center for Medical Ethics and Health Policy Staff Publications

Over the past decade we have seen a steady increase in dangerous pandemic threats. They include two major Ebola epidemics and cholera in Africa; dengue, Zika, yellow fever in the Americas; a COVID-19 pandemic; and H5N1 in Texas. This is happening because of a confluence of modern forces including urbanization, deforestation, and climate change. Yet as pandemics emerge on a crowded and warming planet, anti-science disinformation and antisemitism impede our response. Science tikkun is an overarching framework for repair and redress. It honors the legacy of Maimonides, Teilhard de Chardin, and others who have sought reconciliation between science and religion.

Should Physicians Take The Rap? Normative Analysis Of Clinician Perspectives On Responsible Use Of 'Black Box' Ai Tools, Ben H Lang, Kristin Kostick-Quenet, Jared N Smith, Meghan Hurley, Rita Dexter, Jennifer Blumenthal-Barby

Center for Medical Ethics and Health Policy Staff Publications

Background: Increasing interest in deploying artificial intelligence tools in clinical contexts has raised several ethical questions of both normative and empirical interest. One such question in the literature is whether "responsibility gaps" (r-gaps) are created when clinicians utilize or rely on such tools for providing care, and if so, what to do about them. These gaps are particularly likely to arise when using opaque, "black box" AI tools. Compared to normative and legal analysis of AI-generated responsibility gaps in health care, little is known, empirically, about health care providers views on this issue. The present study examines clinician perspectives on …

Hospital Organizations’ Obligation To Promote Spiritual Well-Being Among Nurses: Development Of A Normative Ethical Argument, Michael Jordan

Electronic Theses and Dissertations

This dissertation presents an innovative strategy to promote the support of nurses' spirituality within hospital organizations. By focusing on the spiritual well-being of nurses by hospital organizations, with a natural extension into nursing schools, the approach aims to enhance nurse’s ability to protect their own spirituality, provide comprehensive spiritual care to patients, and increase nurse moral resilience. By investing in nurses' spirituality and spiritual growth, hospitals can potentially increase job satisfaction among nursing staff, improve patient care outcomes, and create a more holistic healing environment for both nurses and patients. As the nursing shortage continues and the number of nurses …

Tackling Social Stigma: An Ethical Obligation In Healthcare Intervention To Involuntary Childlessness, Persis Naumann

Electronic Theses and Dissertations

The stigma associated with involuntary childlessness has negatively affected health and well-being for several decades. This situation is particularly exacerbated for women within the Tamil socio-cultural context, resulting in feelings of shame, neglect, denial, isolation, and constituting a significant barrier to long-term access to healthcare services. Although advancements have been made in the provision of biomedical care, the psychosocial support remains inadequately addressed. Moreover, there are currently no healthcare interventions that specifically target the stigma associated with this issue, which hinders open communication with healthcare providers, delays necessary treatments, and adversely impacts overall health outcomes. The central thesis of this …

Exploring Anticoagulant Prescription Disparities: A Focus On Hispanic Patient Care, Michael Acevedo, Vanessa Veltre

Rowan-Virtua Research Day

Anticoagulants play a critical role in preventing thromboembolic events, yet disparities persist in their prescription among minority populations. This presentation explores inequities in anticoagulant prescribing patterns, with a specific focus on Hispanic patient care. Using retrospective electronic health record data, we analyzed the prescription rates of warfarin versus direct oral anticoagulants (DOACs) among adults with clinical indications for anticoagulation. Our findings reveal that Hispanic patients are significantly less likely to receive DOACs compared to non-Hispanic White patients, even after adjusting for demographics, comorbidities, and insurance status. Contributing factors include language barriers, lack of insurance, and potential implicit bias in provider …

Am I Woke Enough To Serve In Healthcare: A Secondary Analysis Of Pre-Health Students’ Personal And Professional Growth By Engaging In Cultural Competency Assessments, Harolynn Williams

All Dissertations

Healthcare providers must be equipped to serve an increasingly diverse population, yet cultural competence remains underemphasized in undergraduate pre-health education. This study explored how embedded cultural competency training influences undergraduate pre-health students’ perceptions of personal and professional growth. Using a qualitative descriptive design, the research incorporated intercultural assessments, the Intercultural Development Inventory (IDI), and the Global Competence Certificate (GCC), along with qualitative reflections from students enrolled in three versions of a cultural competence course: a year-long course, a semester-long course, and a short-term study abroad immersion six-week course. Findings revealed that students demonstrated measurable growth in cultural awareness, knowledge, communication, …

Inside The Mad Mind: Medical Ethics In 19th Century Fiction, Danielle Dentremont

College Honors Program

The professionalization of medicine in mid-to-late 19th century America and Britain corresponded with heightened critical scrutiny of the ethics of doctor-patient relationships in contemporary fiction. With ethics frameworks of the century focused primarily on good fellowship between practitioners, it was difficult to charge practitioners with bad ethics. Yet, the broader debates of vivisection and women’s rights brought to light power imbalances between men and women that novelists began to suggest were present in medicine as well. Wilkie Collins’ Heart and Science weighs in on the danger of the doctor-scientist encroaching on women’s rights with the suggestion that women will be …

Germline Pathogenic Drosha Variants Are Linked To Pineoblastoma And Wilms Tumor Predisposition, Peter N Fiorica, Lisa Golmard, Jung Kim, Riyue Bao, Frank Y Lin, Angshumoy Roy, Allison Pribnow, Melissa R Perrino, Julien Masliah-Planchon, Sophie Michalak-Provost, Jennifer Wong, Mathilde Filser, Dominique Stoppa-Lyonnet, Franck Bourdeaut, Afane Brahimi, Olivier Ingster, Giselle Saulnier Sholler, Sarah A Jackson, Mark M Sasaki, Trent Fowler, Anita Ng, Ryan J Corbett, Rebecca S Kaufman, Jeremy S Haley, David J Carey, Kuan-Lin Huang, Sharon J Diskin, Jo Lynne Rokita, Hussam Al-Kateb, Rose B Mcgee, Joshua D Schiffman, Kenneth S Chen, Douglas R Stewart, D Williams Parsons, Sharon E Plon, Kris Ann P Schultz, Kenan Onel

Center for Medical Ethics and Health Policy Staff Publications

Purpose: DROSHA, DGCR8, and DICER1 regulate miRNA biogenesis and are commonly mutated in cancer. Although DGCR8 and DICER1 germline pathogenic variants (GPV) cause autosomal dominant tumor predisposition, no association between DROSHA GPVs and clinical phenotypes has been reported.

Experimental design: After obtaining informed consent, sequencing was performed on germline and tumor samples from all patients. The occurrence of germline DROSHA GPVs was investigated in large pediatric and adult cancer datasets. The population prevalence of DROSHA GPVs was investigated in the UK Biobank and Geisinger DiscovEHR cohorts.

Results: We describe nine children from eight families with heterozygous DROSHA GPVs and a …

A Narrative Review Of Military Reverse Triage., Daniel J Hurst

Rowan-Virtua School of Osteopathic Medicine Departmental Research

INTRODUCTION: Military reverse triage has been described at several points in the literature. However, an extensive review of the concept and any gaps that may exist has not been conducted. This narrative review seeks to understand how reverse triage is used in the military literature and how it might be implemented in practice, as well as the documented historical applications of reverse triage.

MATERIALS AND METHODS: Four databases were searched manually for English-language articles: PubMed, SCOPUS, JSTOR, and Worldwide Political Science Abstracts. In addition, a manual search of references, U.S. DoD, and NATO doctrine, as well as other published works …

Crispr/Cas9 Gene Therapy Increases The Risk Of Tumorigenesis In The Mouse Model Of Hereditary Tyrosinemia Type I, Tong Chen, Mercedes Barzi, Nika Furey, Hyunjae R Kim, Francis P Pankowicz, Xavier Legras, Sara H Elsea, Ayrea E Hurley, Diane Yang, David A Wheeler, Malgorzata Borowiak, Beatrice Bissig-Choisat, Pavel Sumazin, Karl-Dimiter Bissig

Center for Medical Ethics and Health Policy Staff Publications

Background & aims: The therapeutic potential of CRISPR gene editing has been demonstrated in various animal models; however, little is known about its long-term consequences. This study seeks to bridge this gap by investigating the lasting consequences of CRISPR gene therapy in an animal model of hereditary tyrosinemia type I (HT-I). We compared the standard of care-nitisinone, a small molecule inhibitor of hydroxyphenylpyruvate dioxygenase (HPD)-with the deletion of the Hpd gene by CRISPR gene therapy. Both treatments block flux through tyrosine catabolism and thereby prevent the accumulation of toxic catabolites in HT-I.

Methods: We assessed the efficacy and safety of …

Amniocentesis In Pregnancies At Or Beyond 24 Weeks: An International Multicenter Study, Roni Zemet, Mohamad Ali Maktabi, Alexandra Tinfow, Jessica L Giordano, Thomas M Heisler, Qi Yan, Roni Plaschkes, Jenny Stokes, Jennifer M Walsh, Siobhán Corcoran, Erica Schindewolf, Kendra Miller, Asha N Talati, Kristen A Miller, Karin Blakemore, Kate Swanson, Jana Ramm, Ivonne Bedei, Teresa N Sparks, Angie C Jelin, Neeta L Vora, Juliana S Gebb, David A Crosby, Michal Berkenstadt, Boaz Weisz, Ronald J Wapner, Ignatia B Van Den Veyver

Center for Medical Ethics and Health Policy Staff Publications

Background: Amniocentesis for genetic diagnosis is most commonly done between 15 and 22 weeks of gestation but can be performed at later gestational ages. The safety and genetic diagnostic accuracy of amniocentesis have been well-established through numerous large-scale multicenter studies for procedures before 24 weeks, but comprehensive data on late amniocentesis remain sparse.

Objective: To evaluate the indications, diagnostic yield, safety, and maternal and fetal outcomes associated with amniocentesis performed at or beyond 24 weeks of gestation.

Study design: We conducted an international multicenter retrospective cohort study examining pregnant individuals who underwent amniocentesis for prenatal diagnostic testing at gestational ages …

A Novel Method For Semi-Quantitative Detection Of Hpv16 And Hpv18 Mrna With A Low-Cost, Open-Source Fluorimeter, Kathryn A Kundrod, Mary E Natoli, Chelsey A Smith, Jackson B Coole, Megan M Chang, Emilie Newsham Novak, Elizabeth Chiao, Elizabeth A Stier, Jane R Montealegre, Michael E Scheurer, Philip E Castle, Kathleen M Schmeler, Rebecca R Richards-Kortum

Center for Medical Ethics and Health Policy Staff Publications

Despite global calls to eliminate cervical cancer, rates of cervical cancer incidence and mortality remain high in resource-limited settings, where it is challenging to implement and sustain screening, diagnosis, and treatment programs. The presence of high-risk HPV mRNA in cervical cells is a sensitive and specific biomarker of cervical precancer. Yet, current testing methods are too costly and complex for use in resource-limited settings. Here, we present a novel method for semi-quantitative detection of HPV16 and HPV18 mRNA with minimal infrastructure requirements. The assay relies on isothermal reverse transcription recombinase polymerase amplification (RT-RPA) with real-time fluorescence readout, demonstrated on rugged, …

Ethical Considerations For Sharing Aggregate Results From Pragmatic Clinical Trials, Stephanie R Morain, Abigail Brickler, Joseph Ali, Patricia Pearl O'Rourke, Kayte Spector-Bagdady, Benjamin Wilfond, Vasiliki Rahimzadeh, Caleigh Propes, Kayla Mehl, David Wendler

Center for Medical Ethics and Health Policy Staff Publications

A growing literature has explored the ethical obligations and current practices related to sharing aggregate results with research participants. However, no prior work has examined these issues in the context of pragmatic clinical trials. Several characteristics of pragmatic clinical trials may complicate both the ethics and the logistics of sharing aggregate results. Among these characteristics include that pragmatic clinical trials may affect the rights, welfare, and interests of not only patient-subjects but also clinicians, meaning that results may be owed to a broader range of groups than typically considered in other research contexts. In addition, some pragmatic clinical trials are …

Association Of Messenger Rna Coronavirus Disease 2019 (Covid-19) Vaccination And Reductions In Post Covid Conditions Following Severe Acute Respiratory Syndrome Coronavirus 2 Infection In A Us Prospective Cohort Of Essential Workers, Josephine Mak, Sana Khan, Amadea Britton, Spencer Rose, Lisa Gwynn, Katherine D Ellingson, Jennifer Meece, Leora R Feldstein, Harmony Tyner, Laura J Edwards, Matthew S Thiese, Allison Naleway, Manjusha Gaglani, Natasha Solle, Jefferey L Burgess, Julie Mayo Lamberte, Meghan Shea, Taryn Hunt-Smith, Alberto Caban-Martinez, Cynthia Porter, Ryan Wiegand, Ramona Rai, Kurt T Hegmann, James Hollister, Ashley Fowlkes, Meredith Wesley, Andrew L Philips, Patrick Rivers, Robin Bloodworth, Gabriella Newes-Adeyi, Lauren E W Olsho, Sarang K Yoon, Sharon Saydah, Karen Lutrick

Center for Medical Ethics and Health Policy Staff Publications

Background: Data are limited on whether vaccination reduces post COVID conditions (PCCs) risk after less severe nonhospitalized coronavirus disease 2019 (COVID-19). This study assessed whether COVID-19 vaccination protected against PCCs in persons with mild initial infections during Delta and Omicron variant predominance.

Methods: This study utilized a case-control design, nested within the HEROES-RECOVER cohort. Participants aged ≥18 years with test-confirmed severe acute respiratory syndrome coronavirus disease 2 (SARS-CoV-2) between 28 June 2021 and 14 September 2022 were surveyed for PCCs, defined by symptoms lasting >4 weeks after initial infection. Cases self-reported PCCs and controls self-reported no PCCs. The exposure was …

Evaluating Industry Relationships And Transparency: Insights From Orthopedic Surgeons In The Cms Open Payments Database, Anesu K. Murambadoro, Mario Keko, Edward Rodriguez, John J. Wixted

Research Symposium

Introduction: Industry payments to physicians may risk introducing bias into patient care. The Open Payments (OP) database, established by Physician Payments Sunshine Act, reports these payments to promote transparency. Orthopedic surgeons receive the highest industry payments especially in the category of royalties/licensing, prompting questions about conflicts of interest and whether the database accurately reflects the status across the specialty. We hypothesize that the OP database underrepresents the relationships that orthopedic surgeons have with industry. We seek to assess the validity of reported industry payments, particularly in the categories of royalties and licensing payments to determine how to improve transparency and …

Patient Consent And The Right To Notice And Explanation Of Ai Systems Used In Health Care, Meghan E Hurley, Benjamin H Lang, Kristin Marie Kostick-Quenet, Jared N Smith, Jennifer Blumenthal-Barby

Center for Medical Ethics and Health Policy Staff Publications

Given the need for enforceable guardrails for artificial intelligence (AI) that protect the public and allow for innovation, the U.S. Government recently issued a Blueprint for an AI Bill of Rights which outlines five principles of safe AI design, use, and implementation. One in particular, the right to notice and explanation, requires accurately informing the public about the use of AI that impacts them in ways that are easy to understand. Yet, in the healthcare setting, it is unclear what goal the right to notice and explanation serves, and the moral importance of patient-level disclosure. We propose three normative functions …

Navigating Your Us Bioscience Career Into The 2030s, Peter J Hotez

Center for Medical Ethics and Health Policy Staff Publications

The coming decade might see major cuts to the United States Government funding for biomedicine and the mainstreaming of pseudoscience. But your biosciences PhD gives you the problem-solving skills to navigate this maelstrom, especially if you maintain flexibility, optimism, and enthusiasm for uncharted paths.

Family Genetic Risk Communication And Reverse Cascade Testing In The Babyseq Project, Melissa K Uveges, Hadley Stevens Smith, Stacey Pereira, Casie Genetti, Amy L Mcguire, Alan H Beggs, Robert C Green, Ingrid A Holm

Center for Medical Ethics and Health Policy Staff Publications

Purpose: Genomic sequencing of newborns can initiate disease surveillance and therapy for children and may identify at-risk relatives through reverse cascade testing. We explored genetic risk communication and reverse cascade testing among families of newborns who underwent exome sequencing and were identified as having a risk for an autosomal dominant disease.

Methods: We conducted semistructured interviews with parents of newborns enrolled in the BabySeq Project who had a pathogenic or likely pathogenic variant associated with an autosomal dominant childhood- and/or adult-onset disease returned. We used directed content analysis to derive themes.

Results: From 11 families, all first-degree relatives (n = …

Religion And Attitudes Toward Xenotransplantation: Results Of A Nationwide Survey In The United States., Daniel J Hurst, Luz A Padilla, Amanda Zink, Brendan Parent, Laura L Kimberly

Rowan-Virtua School of Osteopathic Medicine Departmental Research

Religious viewpoints have been shown to influence the ways in which many persons approach medical decision-making and have been noted as a potential barrier to xenotransplantation acceptance. This study sought to explore how attitudes toward xenotransplantation differ among various religious beliefs. A national Likert-scale survey was conducted in 2023 with a representative sample in the United States. Religious belief was self-reported. Regression analysis was used to identify associations with religious belief and hesitations about xenotransplantation. Five thousand and eight individuals across the United States responded to the survey. The two biggest concerns about xenotransplantation across religious groups were the current …

Anesthesia And Pain Management In Conflict-Affected Regions: Addressing Global Health Barriers To Access And Quality Of Care​, Naeel Uddin, Sierra Brown, Maria Easler, Ayanda Mkhize, Marwa Hamdam, Chandu Goli, Lauren Draper

Annual Research Symposium

This poster examines how to deliver safe, effective anesthesia and pain control in areas with limited resources and ongoing security threats. Focusing on portable technology, ketamine-based protocols, and telemedicine, we highlight ethical considerations, training needs, and global collaborations. Our findings outline a pathway to reduce suffering and improve surgical outcomes in vulnerable populations by addressing challenges unique to conflict settings.

Figg At 5: An Update On Us Public Perspectives On Forensic Investigative Genetic Genealogy Five Years After Its Introduction To Criminal Investigations, Christi J Guerrini, Jill O Robinson, Mohamed I Elsaid, Whitney Bash Brooks, Ariel Levchenko, Stephanie M Fullerton, Sara Huston, Norah L Crossnohere, John F P Bridges, Jacklyn M Dahlquist, Louiza Kalokairinou, Diana Madden, Cece Moore, Amy L Mcguire

Center for Medical Ethics and Health Policy Staff Publications

In 2018, after law enforcement announced it had used a technique called forensic investigative genetic genealogy (FIGG) to identify the Golden State Killer, we conducted a U.S. general population survey and found most respondents supported using FIGG to solve violent crimes. Since then, FIGG has helped close hundreds of criminal cases, but it also has weathered controversies. On FIGG's fifth anniversary, we conducted an expanded, follow-up survey with U.S.-based participants to determine if public opinion had changed and found continued support for FIGG across most applications. The same proportion (91 %) of respondents in the 2018 and 2023 surveys endorsed …

Revisiting What Constitutes A Neglected Tropical Disease?, Paul J Brindley, Peter J Hotez, Shaden Kamhawi

Center for Medical Ethics and Health Policy Staff Publications

PLOS Neglected Tropical Diseases (PLOS NTDs) publishes research devoted to pathogenesis and other clinical aspects, epidemiology, prevention, diagnosis, treatment, and control of the neglected tropical diseases (NTDs), as well as work relevant to public health policy. We define NTDs as poverty-promoting infectious diseases that can negatively impact the quality of life in rural areas and poor urban areas of low- and middle-income countries but which can also affect specific communities within high-income countries. The poverty-inducing effects of the NTDs operate by impairing child health and development, pregnancy outcomes for both mother and child, worker productivity, and quality of life. The …

Incidence And Survival Of Children And Adolescents With Wilms Tumor, United States, 2001-2020, Andres F Espinoza, Ekene Onwuka, David A Siegel, Shifan Dai, Sanjeev A Vasudevan, Michael E Scheurer, Philip J Lupo

Center for Medical Ethics and Health Policy Staff Publications

Background: Wilms tumor (WT) is the most common pediatric malignancy of the kidney. Past studies describing WT incidence and survival used surveillance data with < 30% of the US population. We evaluated differences in WT incidence and survival comparing demographic groups and tumor characteristics.

Methods: We analyzed new cases of WT among patients aged < 20 years at diagnosis by using incidence data from US Cancer Statistics (USCS) for 2003-2020 and 5-year relative survival (RS) data from the National Program of Cancer Registries (NPCR) for 2001-2019. To assess incidence trends, average annual percent change (AAPC) was calculated by using joinpoint regression. Relative survival (RS) and all-cause survival were calculated overall and by demographic and clinical variables.

Results: During 2003-2020, 8218 cases of WT were reported in USCS, which represented an age-adjusted incidence rate of 5.7 cases per million. Rates were the highest among females (6.3), children aged 0-4 years (17.2), and non-Hispanic Black patients (7.1). Overall, trends remained stable (AAPC = -0.4, 95% CI: -1.4 to 0.4). Among 7567 cases of WT in NPCR, 5-year RS was 92.6%. Patients with the lowest …

Improving Individualized Rhabdomyosarcoma Prognosis Predictions Using Somatic Molecular Biomarkers, Mark Zobeck, Javed Khan, Rajkumar Venkatramani, M Fatih Okcu, Michael E Scheurer, Philip J Lupo

Center for Medical Ethics and Health Policy Staff Publications

Purpose: Molecular markers increasingly influence risk-stratified treatment selection for pediatric rhabdomyosarcoma (RMS). This study aims to integrate molecular and clinical data to produce individualized prognosis predictions that can further improve treatment selection.

Methods: Clinical variables and somatic mutation data for 20 genes from 641 patients with RMS in the United Kingdom and the United States were used to develop three Cox proportional hazard models for predicting event-free survival (EFS). The Baseline Clinical (BC) model included treatment location, age, fusion status, and risk group. The Gene Enhanced 2 (GE2) model added TP53 and MYOD1 mutations to the BC predictors. The Gene …

Longitudinal Phage-Bacteria Dynamics In The Early Life Gut Microbiome, Michael J Tisza, Richard E Lloyd, Kristi Hoffman, Daniel P Smith, Marian Rewers, Sara J Javornik Cregeen, Joseph F Petrosino

Center for Medical Ethics and Health Policy Staff Publications

Microbial colonization of the human gut occurs soon after birth, proceeds through well-studied phases and is affected by lifestyle and other factors. Less is known about phage community dynamics during infant gut colonization due to small study sizes, an inability to leverage large databases and a lack of appropriate bioinformatics tools. Here we reanalysed whole microbial community shotgun sequencing data of 12,262 longitudinal samples from 887 children from four countries across four years of life as part of the The Environmental Determinants of Diabetes in the Young (TEDDY) study. We developed an extensive metagenome-assembled genome catalogue using the Marker-MAGu pipeline, …