Article
Remote Sensing
Vyshnave Jeyabalan, Lorie Donelle, Patrick Meier, Elysee Nouvet
Summary: Drones are being introduced in healthcare delivery worldwide, particularly in remote areas with inadequate healthcare services. However, there is limited guidance on engaging communities in decision-making about drone use. This paper focuses on obtaining consent for implementing Drones for Health projects, highlighting ethical and practical challenges.
Article
Biochemical Research Methods
Meng Zhang, Madhuri Sankaranarayanapillai, Jingcheng Du, Yang Xiang, Frank J. Manion, Marcelline R. Harris, Cooper Stansbury, Huy Anh Pham, Cui Tao
Summary: This study demonstrates the feasibility of using machine learning tools to classify permission-related sentences in informed consent documents.
BMC BIOINFORMATICS
(2023)
Article
Genetics & Heredity
Brittan Armstrong, Kurt D. Christensen, Casie A. Genetti, Richard B. Parad, Jill Oliver Robinson, Carrie L. Blout Zawatsky, Bethany Zettler, Alan H. Beggs, Ingrid A. Holm, Robert C. Green, Amy L. McGuire, Hadley Stevens Smith, Stacey Pereira
Summary: This study investigates parents' attitudes towards population-based newborn screening (NBS) and newborn genomic sequencing (nGS). The results show that most parents support all newborns receiving standard NBS, but have lower support for nGS. Furthermore, most parents are very interested in receiving information on their baby's risk of developing diseases from nGS.
FRONTIERS IN GENETICS
(2022)
Article
Clinical Neurology
Ally Peabody Smith, Nader Pouratian, Ashley Feinsinger
Summary: As neurologically implanted devices become more widely used in clinical applications, there are increasing opportunities for intracranial investigations in human patients. In some cases, patients participate in research during their awake brain surgery, without potential therapeutic benefits. Ethical challenges arise in such intraoperative studies, conducted during a clinical intervention, in a clinical setting, and often by the treating clinician. The need for innovative informed consent methods in intraoperative research is a pressing concern, but current practices are insufficient in addressing participant understanding and trust between patient-participants and surgeon-researchers.
Article
Health Care Sciences & Services
Katja Voit, Tobias Skuban-Eiseler, Marcin Orzechowski, Florian Steger
Summary: Health crises like COVID-19 pose challenges to conducting clinical studies, especially regarding research ethics such as informed consent. This study examines whether proper informed consent procedures were followed in COVID-19 clinical studies at Ulm University from 2020 to 2022. A thematic analysis was conducted on the protocols of 98 COVID-19 studies, finding that informed consent was obtained through traditional written form, waived, obtained delay, or obtained by proxy.
Article
Obstetrics & Gynecology
Summary: Informed consent is a process that involves supporting patients to understand medical options and make voluntary and autonomous decisions, considering the risks, benefits, and alternatives.
FERTILITY AND STERILITY
(2023)
Article
Medicine, Research & Experimental
Tove Godskesen, Joar Bjork, Niklas Juth
Summary: This study explores the ethical challenges encountered by clinical research nurses (CRNs) in obtaining informed consent for clinical research. The findings highlight the threats to voluntariness faced by CRNs, the measures they take to safeguard voluntariness, and the questionable exclusion of certain groups. Time constraints, rushed decisions, and information overload pose challenges for CRNs, while overestimating therapeutic benefits in advanced illness stages can risk voluntariness. Proactive solutions, such as allowing ample decision-making time and supporting terminally ill patients, are outlined. Concerns are also raised about excluding individuals with language barriers or cognitive impairments. This study emphasizes the importance of refining the informed consent process, addressing participation challenges, and ensuring equitable inclusion in clinical studies.
Article
Psychology, Multidisciplinary
Edward Jacobs
Summary: As psychedelic-assisted psychotherapy (PAP) becomes more widely used, there is a need to adapt clinical ethics to accommodate its unique features. The long-term effects of psychedelic drugs and the transformative experiences they induce challenge the traditional understanding required for informed consent. This article explores the ethical implications and consequences for prospective patients.
FRONTIERS IN PSYCHOLOGY
(2023)
Article
Agricultural Economics & Policy
Anna Josephson, Melinda Smale
Summary: Ethical research requires informed consent and voluntary participation of participants, overseen by Institutional Review Boards. However, there are inconsistencies in perspectives and practices across regions. Lack of IRBs and varying principles may fail to adequately protect research participants.
APPLIED ECONOMIC PERSPECTIVES AND POLICY
(2021)
Article
Social Sciences, Interdisciplinary
Florence Caeymaex, Carole Wenger, Felicien de Heusch, Jean-Michel Lafleur
Summary: Social scientists using ethnographic methods are increasingly facing ethical clearance procedures imposed by various organizations. The article focuses on informed consent procedures in particular and discusses their impact on fieldwork interactions. It shows how these procedures in Europe have been influenced by biomedical science and examines their implementation in an EU-funded project on migration studies. The article argues that while informed consent procedures may reinforce participants' vulnerabilities, they can also activate their power assertion.
INTERNATIONAL JOURNAL OF QUALITATIVE METHODS
(2023)
Article
Hospitality, Leisure, Sport & Tourism
Katherine A. Tamminen, A. Bundon, B. Smith, M. H. McDonough, Z. A. Poucher, M. Atkinson
Summary: This paper aims to provide guidance for researchers in the sport and exercise sciences on engaging in open qualitative research practices, with nine core values identified as considerations. Specific considerations are provided for researchers in areas such as types of data and participant consent. These considerations are intended to help qualitative researchers make informed decisions and plan for implementation of open science practices.
QUALITATIVE RESEARCH IN SPORT EXERCISE AND HEALTH
(2021)
Review
Ethics
Nina Kilkku, Arja Halkoaho
Summary: Background research on genomics and biobank activities is increasing internationally. In mental health research, concerns about participants' vulnerability and capacity for informed consent can impact recruitment. This study focuses on nurses' perspectives on informed consent practices in genomic research on mental health, highlighting themes such as consent capacity, emotional responses to participation, and factors influencing decisions to participate.
Article
Pediatrics
Evelien De Sutter, Birte Coopmans, Femke Vanendert, Marc Dooms, Karel Allegaert, Pascal Borry, Isabelle Huys
Summary: Healthcare professionals generally support the use of eIC in neonatal clinical research and emphasize the importance of parental involvement and personal interactions. They believe that eIC can offer various opportunities for such studies, but accessibility concerns for parents should also be considered.
FRONTIERS IN PEDIATRICS
(2021)
Review
Ethics
Mohd Yusmiaidil Putera Mohd Yusof, Chin Hai Teo, Chirk Jenn Ng
Summary: This scoping review aims to identify the ethics related criteria that have been included in electronic informed consent processes and to synthesize and map these criteria to research ethics principles, in order to identify the gaps, if any, in current electronic informed consent processes. The study provides ethical criteria on electronic informed consent based on evidence-based data, adding significant value to the corpus of knowledge in research ethics.
BMC MEDICAL ETHICS
(2022)
Article
Genetics & Heredity
Holly L. Peay, Angela You Gwaltney, Rebecca Moultrie, Heidi Cope, Beth Lincoln-Boyea, Katherine Ackerman Porter, Martin Duparc, Amir A. Alexander, Barbara B. Biesecker, Aminah Isiaq, Jennifer Check, Lisa Gehtland, Donald B. Bailey Jr, Nancy M. P. King
Summary: A challenge in implementing population-based DNA screening is providing sufficient information and support for informed decision making. In a newborn screening study, electronic education and consent were developed to address the objectives of feasibility, acceptability, trustworthiness, and informed decisions. The study showed high acceptability, trustworthiness, and knowledge recall among participants, emphasizing the importance of early knowledge and intervention.
FRONTIERS IN GENETICS
(2022)
Article
Genetics & Heredity
Deborah L. Stabley, Jennifer Holbrook, Mena Scavina, Thomas O. Crawford, Kathryn J. Swoboda, Katherine M. Robbins, Matthew E. R. Butchbach
Summary: Proximal spinal muscular atrophy (SMA) is an early-onset motor neuron disease caused by deletion or disabling mutations of survival motor neuron 1 (SMN1) and affected by the copy number of paralog SMN2. Array digital PCR (dPCR) can accurately and reliably measure SMN1 and SMN2 copy numbers and detect gene conversion events and partial deletions of SMN1. In SMA, higher SMN2 copy numbers are associated with milder disease severity.
Article
Clinical Neurology
Eric J. Eichelberger, Christiano R. R. Alves, Ren Zhang, Marco Petrillo, Patrick Cullen, Wildon Farwell, Jessica A. Hurt, John F. Staropoli, Kathryn J. Swoboda
Summary: This study identified HSPA7/HSP70B as a potential novel biomarker for tracking SMA progression, with changes in levels correlating with circulating neurofilament levels in SMA newborns and infants. Further research will determine the response of HSP70B levels to molecular therapies.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
(2021)
Article
Genetics & Heredity
Anjali Aggarwal, Nishitha R. Pillai, Charles J. Billington, Lynn Schema, Susan A. Berry
Summary: This case describes a 20-year-old male with a history of myopathy, multiple episodes of rhabdomyolysis, and lactic acidosis, attributed to a likely pathogenic variant in the FDX2 gene. The patient is the third reported case of FDX2-related rhabdomyolysis, with unique metabolic features observed during episodes of metabolic decompensation.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2022)
Article
Endocrinology & Metabolism
Kimberly A. Kripps, Leighann Sremba, Austin A. Larson, Johan L. K. Van Hove, Hoanh Nguyen, Erica L. Wright, David M. Mirsky, David Watkins, David S. Rosenblatt, David Ketteridge, Susan A. Berry, Shawn E. McCandless, Peter R. Baker
Summary: Methionine synthase deficiency (cblG complementation group) is a rare inborn error of metabolism that can present with a variety of clinical symptoms. Treatment with hydroxocobalamin, betaine, folinic acid, and methionine supplementation has shown improvement in biochemical profiles of affected patients, with more favorable outcomes observed in those treated early in life. Further research is needed to determine the long-term efficacy of treatment for cblG.
JOURNAL OF INHERITED METABOLIC DISEASE
(2022)
Review
Communication
Julia R. Hathaway, Beth A. Tarini, Sushmita Banerjee, Caroline O. Smolkin, Jessica A. Koos, Susmita Pati
Summary: This literature review aimed to identify interventions designed to improve healthcare team communication in the United States. The study found a variety of interventions, including didactic lectures, simulation, quality improvement, etc., but their effectiveness was inconsistent. Interventions conducted at academic medical centers had better outcomes and utilized statistical analysis for evaluation.
HEALTH COMMUNICATION
(2023)
Article
Pediatrics
Corinna J. Rea, Tammy M. Brady, David G. Bundy, Moonseong Heo, Elissa Faro, Kimberly Giuliano, Beatrice Goilav, Peterkaye Kelly, Kelly Orringer, Beth A. Tarini, Katherine Twombley, Michael L. Rinke
Summary: This study found that pediatrician adherence to the 2017 American Academy of Pediatrics' clinical practice guideline for high blood pressure was low. Only a small percentage of patients received appropriate blood pressure measurements and related counseling and follow-up, highlighting the need for improvement in the recognition and management of childhood hypertension.
JOURNAL OF PEDIATRICS
(2022)
Article
Genetics & Heredity
Kevin Wilhelm, Mathew J. Edick, Susan A. Berry, Michael Hartnett, Amy Brower
Summary: With the increasing availability of publicly available sequencing data, it is crucial for healthcare professionals to understand the impact of genetic variation on diagnosis and patient health outcomes. By analyzing longitudinal health information from newborn screening, unreported genetic variants can be discovered, and the accompanying clinical information can provide insights into the relationship between genotype and phenotype.
FRONTIERS IN GENETICS
(2022)
Article
Biochemistry & Molecular Biology
Kevin A. Strauss, Michelle A. Farrar, Francesco Muntoni, Kayoko Saito, Jerry R. Mendell, Laurent Servais, Hugh J. McMillan, Richard S. Finkel, Kathryn J. Swoboda, Jennifer M. Kwon, Craig M. Zaidman, Claudia A. Chiriboga, Susan T. Iannaccone, Jena M. Krueger, Julie A. Parsons, Perry B. Shieh, Sarah Kavanagh, Melissa Wigderson, Sitra Tauscher-Wisniewski, Bryan E. McGill, Thomas A. Macek
Summary: Onasemnogene abeparvovec was effective and well tolerated for presymptomatic infants at risk of SMA type 2, underscoring the urgency of early identification and intervention.
Article
Biochemistry & Molecular Biology
Kevin A. Strauss, Michelle A. Farrar, Francesco Muntoni, Kayoko Saito, Jerry R. Mendell, Laurent Servais, Hugh J. McMillan, Richard S. Finkel, Kathryn J. Swoboda, Jennifer M. Kwon, Craig M. Zaidman, Claudia A. Chiriboga, Susan T. Iannaccone, Jena M. Krueger, Julie A. Parsons, Perry B. Shieh, Sarah Kavanagh, Sitra Tauscher-Wisniewski, Bryan E. McGill, Thomas A. Macek
Summary: SPR1NT (NCT03505099) is a Phase III study investigating the efficacy and safety of onasemnogene abeparvovec in presymptomatic children with biallelic SMN1 mutations. The results showed that all 14 infants enrolled in the study were able to sit independently for at least 30 seconds within 18 months and none required permanent ventilation. The treatment was well tolerated and effective for children expected to develop SMA type 1.
Article
Genetics & Heredity
Amy Brower, Kee Chan, Marc Williams, Susan Berry, Robert Currier, Piero Rinaldo, Michele Caggana, Amy Gaviglio, William Wilcox, Robert Steiner, Ingrid A. Holm, Jennifer Taylor, Joseph J. Orsini, Luca Brunelli, Joanne Adelberg, Olaf Bodamer, Sarah Viall, Curt Scharfe, Melissa Wasserstein, Jin Y. Chen, Maria Escolar, Aaron Goldenberg, Kathryn Swoboda, Can Ficicioglu, Dieter Matern, Rachel Lee, Michael Watson
Summary: Each year, a significant number of newborns are identified with conditions through population-based newborn screening (NBS), and advancements in genomic technologies hold promise to expand NBS. However, the expansion of NBS in the United States is slow and occurs condition by condition and state by state. The Newborn Screening Translational Research Network (NBSTRN) conducted the NBS Expansion Study to identify challenges and propose improvements, and found that the capacity to expand NBS varies across the US with an average adoption time of 9.5 years for a new condition. Four factors delaying and complicating NBS expansion were identified.
FRONTIERS IN GENETICS
(2022)
Article
Genetics & Heredity
Chelsey Chaehee Lim, Jerry Vockley, Otobo Ujah, Russell S. Kirby, Mathew J. Edick, Susan A. Berry, Georgianne L. Arnold
Summary: This study collected data from 45 cases of mitochondrial trifunctional protein deficiency (TFPD) or isolated long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) to analyze the natural history of these conditions. The study found that different genotypes lead to different symptom profiles, highlighting the importance of genotypic confirmation for diagnosis and treatment.
MOLECULAR GENETICS AND METABOLISM REPORTS
(2022)
Article
Genetics & Heredity
Martin Kharrazi, Charlene Sacramento, Anne Marie Comeau, Jaime E. Hale, Michele Caggana, Denise M. Kay, Rachel Lee, Brendan Reilly, John D. Thompson, Samya Z. Nasr, Mary Kleyn, Gary Hoffman, Mei W. Baker, Colleen Clarke, Cheryl L. Harris, M. Christine Dorley, Hilary Fryman, Ankit Sutaria, Amy Hietala, Holly Winslow, Holly Richards, Bradford L. Therrell
Summary: This survey aimed to identify factors associated with missed cystic fibrosis cases due to low immunoreactive trypsinogen (IRT) levels below program cutoffs. Factors such as race, IRT cutoff values, genotypes, and birth and feeding factors were found to be associated with missed CF cases. Lowering IRT cutoff values and addressing hospital and laboratory factors may help reduce missed CF cases.
INTERNATIONAL JOURNAL OF NEONATAL SCREENING
(2022)
Article
Clinical Neurology
Thomas J. Crawford, Kathryn C. Swoboda, Darryl De Vivo, Enrico Bertini, Wuh-Liang S. Hwu, Richard Finkel, Janbernd L. Kirschner, Nancy Kuntz, Aledie Navas A. Nazario, Julie Parsons, Astrid M. Pechmann, M. Monique M. J. Ryan, Russell Butterfield, Haluk Topaloglu, Tawfeg A. Ben-Omran, Valeria Sansone, Yuh-Jyh Jong, Francy Shu, Cong Zhu, Stephanie R. Raynaud, Tiffany D. Lago, Angela Paradis, Richard Foster, Russell Chin, Zdenek Berger, NURTURE Study Grp
Summary: The NURTURE study provides evidence for the effectiveness and safety of early treatment with nusinersen in children with presymptomatic spinal muscular atrophy. The results demonstrate the durability of treatment effects and the potential for improved outcomes in motor function and survival.
Article
Genetics & Heredity
Aaron J. Goldenberg, Roselle Ponsaran, Amy Gaviglio, Dalton Simancek, Beth A. Tarini
Summary: This study examines the benefits and challenges of using genomics in Newborn Screening Programs from the perspectives of State program officials. The integration of genomics can improve screening modalities and support diagnostic procedures, but it also faces challenges such as high costs, education needs, and potential negative psychosocial impact.
INTERNATIONAL JOURNAL OF NEONATAL SCREENING
(2022)
Article
Genetics & Heredity
Carmencita D. Padilla, Bradford L. Therrell Jr, Maria Melanie Liberty B. Alcausin, Mary Anne D. Chiong, Mary Ann R. Abacan, Ma Elouisa L. Reyes, Charity M. Jomento, Maria Truda T. Dizon-Escoreal, Margarita Aziza E. Canlas, Michelle E. Abadingo, J. Edgar Winston C. Posecion, Conchita G. Abarquez, Alma P. Andal, Anna Lea G. Elizaga, Bernadette C. Halili-Mendoza, Maria Paz Virginia K. Otayza, David S. Millington
Summary: Newborn bloodspot screening began as a research project in the Philippines in 1996 and was mandated by law in 2004. As screening technology and medical knowledge have advanced, NBS programs in countries with developed economies have also expanded, while low- and middle-income countries face challenges in selecting conditions for screening and implementing sustainable programs.
INTERNATIONAL JOURNAL OF NEONATAL SCREENING
(2022)
