Bioethics and Medical Ethics Commons^™

The Babyseq Project: A Clinical Trial Of Genome Sequencing In A Diverse Cohort Of Infants, 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 …

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 …

Two Lives, Shruti Trehan Mbbs

Journal of Wellness

A busy oncologist makes a decision to leave her busy, thriving, community practice in the Mid-West and moves to a Veterans Affairs hospital in South Florida in the quest for a better work-life balance.

Ethical Requirements For Achieving Fairness In Radiology Machine Learning: An Intersectionality And Social Embeddedness Approach, Dessislava S. Fessenko

Journal of Health Ethics

Radiodiagnostics by machine-learning (ML) systems is often perceived as objective and fair. It may, however, exhibit bias towards certain patient sub-groups. The typical reasons for this are the selection of disease features for ML systems to screen, that ML systems learn from human clinical judgements, which are often biased, and that fairness in ML is often inappropriately conceptualized as “equality”. ML systems with such parameters fail to accurately diagnose and address patients’ actual health needs and how they depend on patients’ social identities (i.e. intersectionality) and broader social conditions (i.e. embeddedness). This paper explores the ethical obligations to ensure fairness …

Exploring Chatgpt’S Clinical Ethics Ability: A Pilot Study, Daniel Jenkins, Christian Vercler, Andrew Barnosky, Janice Firn

Journal of Health Ethics

Background: Artificial Intelligence (AI), particularly public models like ChatGPT, has revolutionized the generation of human-like thought processes and text. Across healthcare, the integration of AI in decision-making processes is increasingly pervasive. However, the application of AI in ethical decision-making remains relatively unexplored.

Methods: Ethics consultation notes from a tertiary academic medical center were de-identified. We trained ChatGPT using three separate ‘chats’ with one, two, or five unique notes and asked it to produce an ethical analysis/discussion and recommendations for a test case. We conducted this same series again but gave ChatGPT only the ethical analysis/discussion and recommendation sections from the …

Ethical And Legal Questions With Street Medicine, Gordon Wong

Journal of Health Ethics

The homeless problem has been worsening in the U.S. for many years. Homeless residents have many health issues. Yet their healthcare needs are difficult to be met. To address this problem, the federal government and state governments are encouraging the implementation of Street Medicine programs by providing funding and changing regulations. However, due to the unique characteristics of this population, there are many ethical and legal issues related to delivering care to them. These issues have not been well discussed. This paper attempts to highlight the ethical and legal issues in Street Medicine. The goal is to call the attention …

Advances In Biomedical Research And Treatments: What Is Acceptable?, Michael L. Clancy, Khalid M. Iskandarani, Mitchell C. Mccrea

Journal of Health Ethics

This study investigated the technology acceptance (TA) of twenty-first century biomedical treatments by adults in the United States. A new TA instrument was created, using five distinct levels: (1) Healing and Prevention, (2) Replacement Organs, (3) Enhancements-Medical, (4) Enhancements-Discretionary, and (5) Transhumans. An on-line survey produced 353 usable responses, which showed distinct patterns for each of five biomedical treatment levels. There was clear support for Levels 1–3, but very strong opposition to Levels 4–5. The TA finding draws the line between which human interventions are acceptable versus others that should be prohibited through public policies and medical guidelines.

Applying A Health Equity Lens To Better Understand End-Of-Life Prognostication, Newsha Nikzad, Joelle Robertson-Preidler, Faith E Fletcher

Center for Medical Ethics and Health Policy Staff Publications

Racial and ethnic inequity exists throughout the lifespan, including at the end of life (EOL). Although prognostication is inherently fraught with uncertainty, many underrepresented minorities get prognoses that are overly optimistic, which can exacerbate inequity by depriving patients of details needed to make informed decisions and plan for EOL care. This article applies a health equity lens to facilitate better ethical and clinical understandings of how to care for patients of color more equitably at the EOL.

Psychological Distress Among Ethnically Diverse Participants From Eastern And Southern Africa, Kester Tindi, Allan Kalungi, Eugene Kinyanda, Bizu Gelaye, Alicia Martin, Ronald Galiwango, Wilber Ssembajjwe, Fred Kirumira, Adele Pretorius, Lukoye Atwoli

Internal Medicine, East Africa

Importance: Psychological distress is characterized by anxiety and depressive symptoms. Although prior research has investigated the occurrence and factors associated with psychological distress in low- and middle-income countries, including those in Africa, these studies’ findings are not very generalizable and have focused on different kinds of population groups.

Objective: To investigate the prevalence and characteristics (sociodemographic, psychosocial, and clinical) associated with psychological distress among African participants.

Design, setting and participants: This case-control study analyzed data of participants in the Neuropsychiatric Genetics in African Populations-Psychosis (NeuroGAP-Psychosis) study, which recruited from general outpatient clinics in Eastern (Uganda, Kenya, and Ethiopia) and Southern …

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. …

“The Truth Should Not Be Hidden”: Experiences And Recommendations Of Individuals Making Npe Discoveries Through Genetic Genealogy Databases, Olivia Schuman, Caroline Beit, Jill Oliver Robinson, Whitney Bash Brooks, Amy L Mcguire, Christi Guerrini

Center for Medical Ethics and Health Policy Staff Publications

Purpose: Fueled by direct-to-consumer (DTC) genetic testing and genetic-relative finder services, some participants in genetic genealogy databases are making "not parent expected" (NPE) discoveries. To better understand experiences of this phenomenon, we surveyed a large cohort of users of genetic relative finder (GRF) services concerning their experiences after an NPE discovery.

Methods: Using thematic analysis, we analyzed responses from a cohort of GRF users (n = 646) to open-ended survey items to understand these experiences and their recommendations for DTC genetic testing companies and other GRF users.

Results: We found that individuals had both positive and negative emotional experiences related …

Update On Recommendations For Surveillance For Children With Predisposition To Hematopoietic Malignancy, Luke D Maese, Marcin W Wlodarski, Sun Young Kim, Alison A Bertuch, Gaelle Bougeard, Vivian Y Chang, Lucy A Godley, Payal P Khincha, Roland P Kuiper, Harry Lesmana, Rose B Mcgee, Lisa J Mcreynolds, Julia Meade, Sharon E Plon, Sharon A Savage, Sarah R Scollon, Hamish S Scott, Michael F Walsh, Kim E Nichols, Christopher C Porter

Center for Medical Ethics and Health Policy Staff Publications

Children harboring certain germline gene variants have an increased risk of developing myelodysplastic syndrome (MDS) and other hematopoietic malignancies (HM), such as leukemias and lymphomas. Recent studies have identified an expanding number of these predisposition genes, with variants most prevalent in children with MDS but also found in children with other HM. For some hematopoietic malignancy predispositions (HMP), specifically those with a high risk of MDS, early intervention through hematopoietic stem cell transplantation can favorably impact overall survival, providing a rationale for rigorous surveillance. A multidisciplinary panel of experts at the 2023 AACR Childhood Cancer Predisposition Workshop reviewed the latest …

Racial Misclassification Of American Indian And Alaskan Natives On Death Certificates In The United States: Report For National Network Of Public Health Institutes., Melanie Nadeau, Amber Lyon-Colbert, Maycee Carter, Keona Manuelito, Mikalen Belgarde, Roselle Martin

Indigenous Health Faculty Publications

Racial misclassification is a persistent issue among American Indian and Alaskan Natives who are grossly misrepresented in death. Training is needed for those who report race on death certificates (i.e., funeral directors) so that health and mortality data is accurately reported. An environmental scan of existing resources, literature, and training opportunities was completed in order to understand the current knowledge as well as gaps in racial reporting on death certificates. Racial misclassification is a major barrier to accurate health data for AI/AN populations. It is estimated that approximately 20% of sampled AI/AN individuals were misclassified on their death certificates. Additionally …

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) …

Germline Mutations In A G Protein Identify Signaling Cross-Talk In T Cells, Hyoungjun Ham, Huie Jing, Ian T Lamborn, Megan M Kober, Alexey Koval, Yamina A Berchiche, D Eric Anderson, Kirk M Druey, Judith N Mandl, Bertrand Isidor, Carlos R Ferreira, Alexandra F Freeman, Sundar Ganesan, Meliha Karsak, Peter J Mustillo, Juliana Teo, Zarazuela Zolkipli-Cunningham, Nicolas Chatron, François Lecoquierre, Andrew J Oler, Jana Pachlopnik Schmid, Douglas B Kuhns, Xuehua Xu, Fabian Hauck, Waleed Al-Herz, Matias Wagner, Paulien A Terhal, Mari Muurinen, Vincent Barlogis, Phillip Cruz, Jeffrey Danielson, Helen Stewart, Petra Loid, Sebastian Rading, Boris Keren, Rolph Pfundt, Kol A Zarember, Katharina Vill, Lorraine Potocki, Kenneth N Olivier, Gaetan Lesca, Laurence Faivre, Melanie Wong, Anne Puel, Janet Chou, Maud Tusseau, Niki M Moutsopoulos, Helen F Matthews, Cas Simons, Ryan J Taft, Ariane Soldatos, Etienne Masle-Farquhar, Stefania Pittaluga, Robert Brink, Danielle L Fink, Heidi H Kong, Juraj Kabat, Woo Sung Kim, Tatjana Bierhals, Kazuyuki Meguro, Amy P Hsu, Jingwen Gu, Jennifer Stoddard, Benito Banos-Pinero, Maria Slack, Giampaolo Trivellin, Benoît Mazel, Maarja Soomann, Samuel Li, Val J Watts, Constantine A Stratakis, Maria F Rodriguez-Quevedo, Ange-Line Bruel, Marita Lipsanen-Nyman, Paul Saultier, Rashmi Jain, Daphne Lehalle, Daniel Torres, Kathleen E Sullivan, Sébastien Barbarot, Axel Neu, Yannis Duffourd, Morgan Similuk, Kirsty Mcwalter, Pierre Blanc, Stéphane Bézieau, Tian Jin, Raif S Geha, Jean-Laurent Casanova, Outi M Makitie, Christian Kubisch, Patrick Edery, John Christodoulou, Ronald N Germain, Christopher C Goodnow, Thomas P Sakmar, Daniel D Billadeau, Sébastien Küry, Vladimir L Katanaev, Yu Zhang, Michael J Lenardo, Helen C Su

Center for Medical Ethics and Health Policy Staff Publications

Humans with monogenic inborn errors responsible for extreme disease phenotypes can reveal essential physiological pathways. We investigated germline mutations in GNAI2, which encodes Gαi2, a key component in heterotrimeric G-protein signal transduction usually thought to regulate adenylyl cyclase-mediated cAMP production. Patients with activating Gαi2 mutations had clinical presentations that included impaired immunity. Mutant Gαi2 impaired cell migration and augmented responses to T cell receptor (TCR) stimulation. We found that mutant Gαi2 influenced TCR signaling by sequestering the GTPase-activating protein RASA2, thereby promoting RAS activation and increasing downstream ERK/MAPK and PI3K-AKT S6 signaling to drive cellular growth and proliferation.

Applying A Framework Of Epistemic Injustice To Understand The Impact Of Covid-19 On People With Intellectual And Developmental Disabilities, Sarah Lineberry, Matthew Bogenschutz

Developmental Disabilities Network Journal

Epistemic injustice, the theory of unfairness related to knowledge, is a useful framework for understanding the ways in which historic and ongoing marginalization and stereotypes have shaped the ways that people with intellectual and developmental disabilities (IDD) have been impacted by the COVID-19 pandemic. We conducted a scoping review of the literature and divided findings into physical health (cases, hospitalization, and death) and psychosocial outcomes (access to services, mental health symptoms, community participation, etc.). Impacts were then analyzed using the key principles of epistemic injustice. Findings suggest that people with intellectual and developmental disabilities (IDD) experienced high rates of negative …

The Case For Early Childhood Education As Health And Economic Policy, Jessica N. Wise, Katarina Reyes, Sandra Mckay

Faculty and Staff Publications

Families across the United States are facing significant challenges due to the limited availability and affordability of high-quality early childhood care options for children under the age of 6. Child care access is especially challenging for those seeking to reenter the workforce. Rethinking child care, especially early childhood education, as health care is essential for achieving a better future and economic security for children, families, and caregivers across the U.S.

Implementation Of A Dyadic Nomenclature For Monogenic Diseases, Courtney Thaxton, Leslie G Biesecker, Marina Distefano, Melissa Haendel, Ada Hamosh, Emma Owens, Sharon E Plon, Heidi L Rehm, Jonathan S Berg

Center for Medical Ethics and Health Policy Staff Publications

A core task when establishing the strength of evidence for a gene's role in a monogenic disorder is determining the appropriate disease entity to curate. Establishing this concept determines which evidence can be applied and quantified toward the final gene-disease validity, variant pathogenicity, or actionability classification. Genes with implications in more than one phenotype can necessitate a process of lumping and splitting, disease reorganization, and updates to disease nomenclature. Reappraisal of the names that are used as labels for disease entities is therefore a necessary and perpetual process. The Clinical Genome Resource (ClinGen), in collaboration with representatives from Monarch Disease …

The New Professional: Tips For Dealing With Unpleasant Patients, Amrita Patel Dds

The Journal of the Michigan Dental Association

This article emphasizes the importance of managing unpleasant patients in dentistry through empathy, effective communication, and tailored care. Dentists should understand that patient anxiety often stems from fear or past trauma. Building trust through clear explanations, personalized comfort measures, and pain management is crucial. Techniques like guided imagery and gradual exposure can help reduce anxiety. Consistency in care and follow-up support strengthens patient relationships, making even the most challenging patients more comfortable and cooperative.

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 …