Article
Health Care Sciences & Services
Kelly E. Ormond, Maia J. Borensztein, Miranda L. G. Hallquist, Adam H. Buchanan, William Andrew Faucett, Holly L. Peay, Maureen E. Smith, Eric P. Tricou, Wendy R. Uhlmann, Karen E. Wain, Curtis R. Coughlin
Summary: The research identified core concepts essential for informed consent for genetic testing through an expert consensus process, including the voluntary nature of testing, test recommendations and results, family impact, and potential risks.
JOURNAL OF PERSONALIZED MEDICINE
(2021)
Article
Genetics & Heredity
Miranda L. G. Hallquist, Eric P. Tricou, Kelly E. Ormond, Juliann M. Savatt, Curtis R. Coughlin, W. Andrew Faucett, Laura Hercher, Howard P. Levy, Julianne M. O'Daniel, Holly L. Peay, Melissa Stosic, Maureen Smith, Wendy R. Uhlmann, Hannah Wand, Karen E. Wain, Adam H. Buchanan
Summary: The CADRe recommendations provide guidance on the depth of pre- and post-test communication, aligning the needs of patients with appropriate communication approaches. Shorter, targeted discussions are recommended for many tests and indications, while longer traditional GC consultations are reserved for more complex situations.
Article
Health Care Sciences & Services
Gemme Campbell-Salome, Laney K. Jones, Nicole L. Walters, Kelly M. Morgan, Andrew Brangan, Ilene G. Ladd, Mary P. McGowan, Katherine Wilemon, Tara J. Schmidlen, Emilie Simmons, Marci L. B. Schwartz, Megan N. McMinn, Eric Tricou, Alanna K. Rahm, Catherine D. Ahmed, Amy C. Sturm
Summary: This project aimed to optimize communication strategies to support family communication about familial hypercholesterolemia (FH) and improve cascade testing uptake among at-risk relatives. Feedback from participants was collected via interviews and surveys, and the communication strategies were optimized based on the feedback. The optimized strategies were implemented in a comprehensive cascade testing program.
BMC HEALTH SERVICES RESEARCH
(2023)
Article
Computer Science, Information Systems
Sarah K. Savage, Jonathan LoTempio, Erica D. Smith, E. Hallie Andrew, Gloria Mas, Amanda H. Kahn-Kirby, Emmanuele Delot, Andrea J. Cohen, Georgia Pitsava, Robert Nussbaum, Vincent A. Fusaro, Seth Berger, Eric Vilain
Summary: We implemented a chatbot consent tool to shift the time burden from study staff in support of a national genomics research study. We compared data from prospective participants who used the tool or had traditional consent conversations with study staff.
JOURNAL OF THE AMERICAN MEDICAL INFORMATICS ASSOCIATION
(2023)
Article
Medicine, Research & Experimental
Julia Wade, Elka Humphrys, Alba X. Realpe, Daisy M. Gaunt, Jenni Burt
Summary: The participatory and informed consent (PIC) measure was developed to assess recruiter information provision and patient understanding in recruitment discussions. The measure was evaluated and revised within the context of the OPTiMISE trial, demonstrating good feasibility, content validity, and reliability.
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
Computer Science, Software Engineering
Tendai Makasi, Alireza Nili, Kevin C. Desouza, Mary Tate
Summary: Chatbots are increasingly being used in various public services, offering numerous advantages for public service delivery. Our typology contributes to the effective use of chatbot-mediated services in the public service context.
Article
Clinical Neurology
Alessandro Perin, Tommaso Francesco Galbiati, Roberta Ayadi, Enrico Gambatesa, Eleonora Francesca Orena, Nicole Irene Riker, Hagit Silberberg, Donatella Sgubin, Torstein Ragnar Meling, Francesco DiMeco
Summary: This study demonstrates that using immersive 3D imaging technologies for informed consent can improve patients' understanding of their condition, enhance communication experience, and reduce anxiety levels. Patients in the experimental groups appreciated this new communication method and showed higher objective comprehension compared to the control group.
ACTA NEUROCHIRURGICA
(2021)
Review
Oncology
Joseph A. DeMari, David I. Shalowitz
Summary: This article reviews available data on consent for tumor testing for mismatch repair (MMR) and provides recommendations for ethical best practices. The study suggests that routine consent for tumor testing is not common, but decision aids can improve patient knowledge and satisfaction. Previous ethical analyses on consent practices vary and have deficits in relation to contemporary clinical care.
GYNECOLOGIC ONCOLOGY
(2022)
Article
Genetics & Heredity
Wendy Bos, Eline M. Bunnik
Summary: In the study on informed consent for exome sequencing, clinical geneticists in the Netherlands typically discuss the nature and aim of the test, possible results, and consequences with patients. They may use a layered approach to provide information based on patient needs. This personalized approach may help address ethical challenges in obtaining informed consent for genomic sequencing in mainstream settings.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2022)
Article
Pediatrics
Katie Arkell, Christopher Gyngell, Zornitza Stark, Danya F. Vears
Summary: This study aimed to explore the challenges faced by healthcare professionals (HPs) using urGS, particularly when making treatment decisions. The results revealed that HPs experienced confusion and moral distress when dealing with urGS results of uncertain prognostic significance, and their experiences could inform specialized training for the genomics workforce in treatment decision making.
Article
Business
Mengmeng Song, Xinyu Xing, Yucong Duan, Jason Cohen, Jian Mou
Summary: This study investigates the impact of different types of chatbot service agents on consumers and analyzes the mediating role of communication quality and privacy risks. It also reveals the influence of users' need for human interaction on the effects of service agent types.
JOURNAL OF RETAILING AND CONSUMER SERVICES
(2022)
Letter
Medicine, Research & Experimental
Johannes C. Fischer, Albrecht G. Schmidt, Edwin Bolke, Verena Keitel, Torsten Feldt, Bjorn Jensen, Noemi F. Freise, Dieter Haussinger, E. Marion Schneider, Derik Hermsen, Detlef Kindgen-Milles, Wolfram Trudo Knoefel, Jan Haussmann, Balint Tamaskovics, Christian Plettenberg, Kathrin Scheckenbach, Stefanie Corradini, Jutta Rox, Vera Balz, Kitti Maas, Livia Schmidt, Olaf Grebe, Anja Erhardt, Peter Arne Gerber, Matthias Peiper, Bettina Alexandra Buhren, Artur Lichtenberg, Amir Rezazadeh, Wilfried Budach, Christiane Matuschek
Summary: The COVID-19 infection poses a major threat to patients and healthcare providers globally, with vaccination against SARS-CoV-2 identified as a solution. Continuing population-scale vaccination programs is crucial in light of rapidly evolving situations.
EUROPEAN JOURNAL OF MEDICAL RESEARCH
(2021)
Article
Oncology
Vasiliki Baroutsou, Vu Duong, Alice Signorini, Ramon Saccilotto, Florina M. Ciorba, Nicole Burki, Maria Caiata-Zufferey, Jai Min Ryu, Sung-Won Kim, Myong Cheol Lim, Christian Monnerat, Ursina Zurrer-Hardi, Jisun Kim, Karl Heinimann, Rossella Graffeo, Ji Soo Park, Manuela Rabaglio, Pierre Olivier Chappuis, Sue Kim, Maria C. Katapodi, CASCADE and K CASCADE Consortia
Summary: The study adapted the Family Gene Toolkit for Swiss and Korean families with genetic changes associated with hereditary breast and ovarian cancer syndrome. The adapted toolkit promotes family communication of genetic testing results and cascade genetic testing among at-risk relatives. The findings suggest that the adapted toolkit is well-designed and can increase rates of cascade testing among at-risk relatives. Its efficacy will be further tested in a subsequent randomized trial.
Article
Health Care Sciences & Services
Claudia Neumann, Nadine Strassberger-Nerschbach, Achilles Delis, Johannes Kamp, Alexandra Goertzen-Patin, Dishalen Cudian, Andreas Fleischer, Goetz Wietasch, Mark Coburn, Ehrenfried Schindler, Grigorij Schleifer, Maria Wittmann
Summary: Digitalization is becoming increasingly important in the medical field, opening up new possibilities for optimizing patient education in the context of anesthesia. However, the implementation of remote consent in Europe is limited, reflecting the inconsistent legal situation and medical technical structures across the continent.
Article
Genetics & Heredity
Adam H. Buchanan, Kandamurugu Manickam, Michelle N. Meyer, Jennifer K. Wagner, Miranda L. G. Hallquist, Janet L. Williams, Alanna Kulchak Rahm, Marc S. Williams, Zong-Ming E. Chen, Chaitali K. Shah, Tullika K. Garg, Amanda L. Lazzeri, Marci L. B. Schwartz, D'Andra M. Lindbuchler, Audrey L. Fan, Rosemary Leeming, Pedro O. Servano, Ashlee L. Smith, Victor G. Vogel, Noura S. Abul-Husn, Frederick E. Dewey, Matthew S. Lebo, Heather M. Mason-Suares, Marylyn D. Ritchie, F. Daniel Davis, David J. Carey, David T. Feinberg, W. Andrew Faucett, David H. Ledbetter, Michael F. Murray
GENETICS IN MEDICINE
(2018)
Article
Health Care Sciences & Services
Marc S. Williams, Adam H. Buchanan, F. Daniel Davis, W. Andrew Faucett, Miranda L. G. Hallquist, Joseph B. Leader, Christa L. Martin, Cara Z. McCormick, Michelle N. Meyer, Michael F. Murray, Alanna K. Rahm, Marci L. B. Schwartz, Amy C. Sturm, Jennifer K. Wagner, Janet L. Williams, Huntington F. Willard, David H. Ledbetter
Article
Genetics & Heredity
Miranda L. G. Hallquist, Eric P. Tricou, Michael N. Hallquist, Juliann M. Savatt, Heather Rocha, Alyson E. Evans, Nicole Deckard, Yirui Hu, H. Lester Kirchner, Josie Pervola, Alanna Kulchak Rahm, Misha Rashkin, Tara J. Schmidlen, Marci L. B. Schwartz, Janet L. Williams, Marc S. Williams, Adam H. Buchanan
GENETICS IN MEDICINE
(2020)
Article
Health Care Sciences & Services
Tara Schmidlen, Amy C. Sturm, Laura B. Scheinfeldt
JOURNAL OF PERSONALIZED MEDICINE
(2020)
Article
Public, Environmental & Occupational Health
Marci L. B. Schwartz, William M. P. Klein, Lori A. H. Erby, Christy H. Smith, Debra L. Roter
Summary: Presenting a larger menu of genetic testing options led to higher testing uptake, while incorporating a preference-based clinician recommendation resulted in more preference-consistent choices.
PATIENT EDUCATION AND COUNSELING
(2021)
Article
Genetics & Heredity
Jessica Edgar, Annie Bao, Tara Maga, Marci Schwartz, Carin Yates, Sara Spencer
Summary: Adoptees show greater interest in elective genomic testing, motivated by curiosity and a desire to learn about risks to future generations. Higher education among adoptees and higher income among non-adoptees are associated with increased willingness to spend more on genetic testing. Social identity plays a significant role in mediating adoption and testing motivation.
JOURNAL OF MEDICAL GENETICS
(2022)
Article
Cardiac & Cardiovascular Systems
Eric D. Carruth, Dominik Beer, Amro Alsaid, Marci L. B. Schwartz, Megan McMinn, Melissa A. Kelly, Adam H. Buchanan, Christopher D. Nevius, Hugh Calkins, Cynthia A. James, Brittney Murray, Crystal Tichnell, Martin E. Matsumura, H. Lester Kirchner, Brandon K. Fornwalt, Amy C. Sturm, Christopher M. Haggerty
Summary: This study presented clinical follow-up findings of carriers with pathogenic/likely pathogenic desmosome variants identified through genomic screening. Results showed that DSP variants were most common among carriers, and carriers with left-dominant ACM exhibited multiple diagnostic criteria.
CIRCULATION-GENOMIC AND PRECISION MEDICINE
(2021)
Article
Genetics & Heredity
Marci L. B. Schwartz, Adam H. Buchanan, Miranda L. G. Hallquist, Christopher M. Haggerty, Amy C. Sturm
Summary: Emerging genetic testing delivery models allow individuals to receive testing without medical indication, with a focus on patient care considerations for adult patients with positive results for monogenic disease through genomic screening, including adapting genetic counseling, phenotyping, risk assessments, and utilizing existing guidelines and resources. Case examples demonstrate principles of genotype-first patient care.
JOURNAL OF GENETIC COUNSELING
(2021)
Article
Genetics & Heredity
Tara Schmidlen, Claire L. Jones, Gemme Campbell-Salome, Cara Z. McCormick, Erin Vanenkevort, Amy C. Sturm
Summary: Successful proband-mediated family communication and subsequent cascade genetic testing uptake require interventions that present clear and detailed information with medical authority. A Family Sharing Tool (FST) and a cascade chatbot were developed to facilitate communication between patients and their relatives regarding genetic test results. The study found that consent to use FST significantly increased the uptake of cascade genetic testing among relatives of probands.
JOURNAL OF GENETIC COUNSELING
(2022)
Article
Pharmacology & Pharmacy
Jennifer A. Wick, Tara Schmidlen, Kendra Grande, Chad Moretz, Kristine Ashcraft, Julia Green, Nicolas Moyer, Burns C. Blaxall
Summary: This study assessed the impact of implementing a pharmacogenomic practice model in 30 primary care clinics, which incorporated comprehensive risk evaluation, testing, and medication optimization by PGx-certified pharmacists. The results showed that integrating pharmacogenomic testing with clinical decision support could enhance medication safety and efficacy in patients.
JOURNAL OF THE AMERICAN PHARMACISTS ASSOCIATION
(2023)
Article
Health Care Sciences & Services
Kristine Ashcraft, Kendra Grande, Sara L. L. Bristow, Nicolas Moyer, Tara Schmidlen, Chad Moretz, Jennifer A. A. Wick, Burns C. C. Blaxall
Summary: This study validated the accuracy of the YouScript(R) PGx interaction probability (PIP) algorithm in predicting drug-gene interactions. The results showed a significant concordance between the PIP scores generated by the algorithm and the actual drug-gene interactions identified through gene panel testing.
JOURNAL OF PERSONALIZED MEDICINE
(2022)
Article
Cardiac & Cardiovascular Systems
Christopher M. Haggerty, Brittney Murray, Crystal Tichnell, Daniel P. Judge, Harikrishna Tandri, Marci Schwartz, Amy C. Sturm, Martin E. Matsumura, Michael F. Murray, Hugh Calkins, Brandon K. Fornwalt, Cynthia A. James
CIRCULATION-GENOMIC AND PRECISION MEDICINE
(2018)
Article
Medicine, General & Internal
Kandamurugu Manickam, Adam H. Buchanan, Marci L. B. Schwartz, Miranda L. G. Hallquist, Janet L. Williams, Alanna Kulchak Rahm, Heather Rocha, Juliann M. Savatt, Alyson E. Evans, Loren M. Butry, Amanda L. Lazzeri, D'Andra M. Lindbuchler, Carroll N. Flansburg, Rosemary Leeming, Vitor G. Vogel, Matthew S. Lebo, Heather M. Mason-Suares, Derick C. Hoskinson, Noura S. Abul-Husn, Frederick E. Dewey, John D. Overton, Jeffrey G. Reid, Aris Baras, Huntington F. Willard, Cara Z. McCormick, Sarath B. Krishnamurthy, Dustin N. Hartzel, Korey A. Kost, Daniel R. Lavage, Amy C. Sturm, Lauren R. Frisbie, T. Nate Person, Raghu P. Metpally, Monia A. Giovanni, Lacy E. Lowry, Joseph B. Leader, Marylyn D. Ritchie, David J. Carey, Anne E. Justice, H. Lester Kirchner, W. Andrew Faucett, Marc S. Williams, David H. Ledbetter, Michael F. Murray