Publications

SCBE faculty and fellows publish often in leading journals. SCBE is also home to the editorial office of the American Journal of Bioethics (AJOB).

 

Associate Professor of Medicine (Primary Care and Population Health) and of Anesthesiology, Perioperative and Pain Medicine at the Stanford University Medical Center

Publications

  • Preoperative Conversations About Postoperative Risks, Outcomes, and Quality of Life-Time to Start Thinking Outside the Box. JAMA network open Yefimova, M., Aslakson, R. A. 2020; 3 (11): e2024048

    View details for DOI 10.1001/jamanetworkopen.2020.24048

    View details for PubMedID 33180125

  • Church leaders and parishioners speak out about the role of the church in advance care planning and end-of-life care. Palliative & supportive care Sloan, D. H., Gray, T. F., Harris, D., Peters, T., Belcher, A., Aslakson, R., Bowie, J. 2020: 1–7

    Abstract

    OBJECTIVE: Despite the increased focus on improving advance care planning (ACP) in African Americans through community partnerships, little published research focused on the role of the African American church in this effort. This study examines parishioner perceptions and beliefs about the role of the church in ACP and end-of-life care (EOLC).METHOD: Qualitative interviews were completed with 25 church members (parishioners n = 15, church leader n = 10). The coding of data entailed a direct content analysis approach incorporating team experts for final themes.RESULTS: Seven themes emerged: (1) church role on end-of-life, (2) advocacy for health and well-being, (3) health literacy in EOLC, (4) lay health training on ACP and EOLC, (5) church recognized as a trusted source, (6) use of church ministries to sustain programs related to ACP and EOLC, and (7) community resources for EOLC needs.SIGNIFICANCE OF RESULTS: The church has a central role in the African American Community. These findings suggest that involving African American churches in ACP and EOLC training can have a positive effect on facilitating planning and care during illness, dying, and death for their congregants.

    View details for DOI 10.1017/S1478951520000966

    View details for PubMedID 33118897

  • Opportunities for Palliative Care in Patients with Burn Injury-A Systematic Review Cook, A., Langston, J., Jaramillo, J., Edwards, K., Wong, H., Aslakson, R. ELSEVIER SCIENCE INC. 2020: 256
Clinical Associate Professor, Anesthesiology, Perioperative and Pain Medicine

Publications

  • Elective Surgery and COVID-19: A Framework for the Untested Patient. Annals of surgery Lu, A. C., Burgart, A. M. 2020

    View details for DOI 10.1097/SLA.0000000000004474

    View details for PubMedID 32889879

  • Parents Demand and Teenager Refuses Epidural Anesthesia. Pediatrics Berkowitz, I., Burgart, A., Truog, R. D., Mancuso, T. J., Char, D., Lantos, J. D. 2020

    Abstract

    A 15-year-old girl is scheduled to undergo an upper lobectomy to debulk metastatic Ewing sarcoma. The anesthesiologist recommended placement of a thoracic epidural catheter to provide postoperative analgesia. The patient did not want a needle to be placed near her spine. She was terrified that the procedure would be painful and that it might paralyze her. Although the anesthesiologist reassured her that sedation and local anesthesia would make the procedure comfortable, she remained vehemently opposed to the epidural procedure. The parents spoke privately to the anesthesiologist and asked for placement of the epidural after she was asleep. They firmly believed that this would provide optimal postoperative analgesia and thus would be in her best interest. Experts discuss the pros and cons of siding with the patient or parents.

    View details for DOI 10.1542/peds.2019-3295

    View details for PubMedID 32398328

  • The opioid crisis should lead pediatric anesthesiologists to a broader vision of opioid stewardship. Paediatric anaesthesia Burgart, A. M., Char, D. 2019; 29 (11): 1078–80

    View details for DOI 10.1111/pan.13730

    View details for PubMedID 31677337

Assistant Professor of Anesthesiology, Perioperative and Pain Medicine (Pediatric) at the Stanford University Medical Center

Publications

  • A Framework to Evaluate Ethical Considerations with ML-HCA Applications-Valuable, Even Necessary, but Never Comprehensive. The American journal of bioethics : AJOB Char, D., Abramoff, M., Feudtner, C. 2020; 20 (11): W6–W10

    View details for DOI 10.1080/15265161.2020.1827695

    View details for PubMedID 33103985

  • Identifying Ethical Considerations for Machine Learning Healthcare Applications. The American journal of bioethics : AJOB Char, D. S., Abramoff, M. D., Feudtner, C. 2020; 20 (11): 7–17

    Abstract

    Along with potential benefits to healthcare delivery, machine learning healthcare applications (ML-HCAs) raise a number of ethical concerns. Ethical evaluations of ML-HCAs will need to structure the overall problem of evaluating these technologies, especially for a diverse group of stakeholders. This paper outlines a systematic approach to identifying ML-HCA ethical concerns, starting with a conceptual model of the pipeline of the conception, development, implementation of ML-HCAs, and the parallel pipeline of evaluation and oversight tasks at each stage. Over this model, we layer key questions that raise value-based issues, along with ethical considerations identified in large part by a literature review, but also identifying some ethical considerations that have yet to receive attention. This pipeline model framework will be useful for systematic ethical appraisals of ML-HCA from development through implementation, and for interdisciplinary collaboration of diverse stakeholders that will be required to understand and subsequently manage the ethical implications of ML-HCAs.

    View details for DOI 10.1080/15265161.2020.1819469

    View details for PubMedID 33103967

  • Parents Demand and Teenager Refuses Epidural Anesthesia. Pediatrics Berkowitz, I., Burgart, A., Truog, R. D., Mancuso, T. J., Char, D., Lantos, J. D. 2020

    Abstract

    A 15-year-old girl is scheduled to undergo an upper lobectomy to debulk metastatic Ewing sarcoma. The anesthesiologist recommended placement of a thoracic epidural catheter to provide postoperative analgesia. The patient did not want a needle to be placed near her spine. She was terrified that the procedure would be painful and that it might paralyze her. Although the anesthesiologist reassured her that sedation and local anesthesia would make the procedure comfortable, she remained vehemently opposed to the epidural procedure. The parents spoke privately to the anesthesiologist and asked for placement of the epidural after she was asleep. They firmly believed that this would provide optimal postoperative analgesia and thus would be in her best interest. Experts discuss the pros and cons of siding with the patient or parents.

    View details for DOI 10.1542/peds.2019-3295

    View details for PubMedID 32398328

Professor (Research) of Pediatrics (Center for Biomedical Ethics) and of Medicine (General Medical Disciplines)

Publications

  • Ethical issues in using ambient intelligence in health-care settings. The Lancet. Digital health Martinez-Martin, N., Luo, Z., Kaushal, A., Adeli, E., Haque, A., Kelly, S. S., Wieten, S., Cho, M. K., Magnus, D., Fei-Fei, L., Schulman, K., Milstein, A. 2020

    Abstract

    Ambient intelligence is increasingly finding applications in health-care settings, such as helping to ensure clinician and patient safety by monitoring staff compliance with clinical best practices or relieving staff of burdensome documentation tasks. Ambient intelligence involves using contactless sensors and contact-based wearable devices embedded in health-care settings to collect data (eg, imaging data of physical spaces, audio data, or body temperature), coupled with machine learning algorithms to efficiently and effectively interpret these data. Despite the promise of ambient intelligence to improve quality of care, the continuous collection of large amounts of sensor data in health-care settings presents ethical challenges, particularly in terms of privacy, data management, bias and fairness, and informed consent. Navigating these ethical issues is crucial not only for the success of individual uses, but for acceptance of the field as a whole.

    View details for DOI 10.1016/S2589-7500(20)30275-2

    View details for PubMedID 33358138

  • Partial Entrustment in Pragmatic Clinical Trials AMERICAN JOURNAL OF BIOETHICS Richardson, H. S., Cho, M. K. 2020; 20 (1): 24–26
  • Partial Entrustment in Pragmatic Clinical Trials. The American journal of bioethics : AJOB Richardson, H. S., Cho, M. K. 2020; 20 (1): 24–26

    View details for DOI 10.1080/15265161.2019.1687791

    View details for PubMedID 31896335

Postdoctoral Research Fellow, Biomedical Ethics
Deane F. and Kate Edelman Johnson Professor of Law and, Professor, by courtesy, of Genetics

Publications

  • Neuroscience and the Criminal Justice System ANNUAL REVIEW OF CRIMINOLOGY, VOL 2 Greely, H. T., Farahany, N. A., Petersilia, J., Sampson, R. J. 2019; 2: 451–71
  • Neuroethics Guiding Principles for the NIH BRAIN Initiative. The Journal of neuroscience : the official journal of the Society for Neuroscience Greely, H. T., Grady, C., Ramos, K. M., Chiong, W., Eberwine, J., Farahany, N. A., Johnson, L. S., Hyman, B. T., Hyman, S. E., Rommelfanger, K. S., Serrano, E. E. 2018; 38 (50): 10586–88

    View details for DOI 10.1523/JNEUROSCI.2077-18.2018

    View details for PubMedID 30541767

  • The ethics of experimenting with human brain tissue. Nature Farahany, N. A., Greely, H. T., Hyman, S., Koch, C., Grady, C., Pașca, S. P., Sestan, N., Arlotta, P., Bernat, J. L., Ting, J., Lunshof, J. E., Iyer, E. P., Hyun, I., Capestany, B. H., Church, G. M., Huang, H., Song, H. 2018; 556 (7702): 429–32

    View details for DOI 10.1038/d41586-018-04813-x

    View details for PubMedID 29691509

Research Scholar, School of Medicine - Biomedical Ethics

Publications

  • "It seems like COVID-19 now is the only disease present on Earth": living with a rare or undiagnosed disease during the COVID-19 pandemic. Genetics in medicine : official journal of the American College of Medical Genetics Halley, M. C., Stanley, T., Maturi, J., Goldenberg, A. J., Bernstein, J. A., Wheeler, M. T., Tabor, H. K. 2021

    Abstract

    Patients with rare and undiagnosed diseases (RUDs) face significant health challenges, which may be exacerbated during the COVID-19 pandemic. The goal of this study was to identify specific impacts of the pandemic on RUD patients, and targets for improving support and health-care access.We conducted an online survey of RUD patients and their family members from 21 April to 8 June 2020, recruited from 76 Facebook groups for RUDs. Questions assessed patient characteristics and impacts of the pandemic on RUD diagnosis and management.Respondents (n = 413), including 274 RUD patients and 139 family members, were predominantly female and white, though income varied. Impacts of the pandemic included (1) barriers to accessing essential health care, (2) specific impacts of restrictive COVID-19 visitation policies on ability to advocate in health-care settings, (3) uncertainty and fear regarding COVID-19 risk, (4) exacerbated physical and mental health challenges, (5) magnified impacts of reduced educational and therapeutic services, and (6) unexpected positive changes due to the pandemic.There are specific, serious challenges affecting RUD patients and families during the COVID-19 pandemic. There is an urgent need to develop approaches to mitigate these challenges both during and beyond the pandemic.

    View details for DOI 10.1038/s41436-020-01069-7

    View details for PubMedID 33420343

  • When All You Have Is Quality of Life - Making Medical Decisions in the Face of Uncertainty. The New England journal of medicine Halley, M. C. 2020; 383 (16): 1507–9

    View details for DOI 10.1056/NEJMp2001574

    View details for PubMedID 33053282

  • Barriers and Facilitators to Real-world Implementation of the Diabetes Prevention Program in Large Healthcare Systems: Lifestyle Coach Perspectives. Journal of general internal medicine Halley, M. C., Petersen, J., Nasrallah, C., Szwerinski, N., Romanelli, R., Azar, K. M. 2020

    Abstract

    BACKGROUND: Group-based lifestyle change programs based on the Diabetes Prevention Program (DPP) are associated with clinically significant weight loss and decreases in cardiometabolic risk factors. However, these benefits depend on successful real-world implementation. Studies have examined implementation in community settings, but less is known about integration in healthcare systems, and particularly in large, multi-site systems with the potential for extended reach.OBJECTIVE: To examine the barriers and facilitators to successful DPP implementation in a large multi-site healthcare system.DESIGN: Semi-structured interviews, based on the RE-AIM framework, were conducted in person for 30-90min each.PARTICIPANTS: Past and present DPP lifestyle coaches in the healthcare system identified using purposive sampling.APPROACH: Thematic analysis of qualitative data to identify key factors influencing the success of DPP implementation. An iterative consensus process was used to model the relationships among factors.KEY RESULTS: We conducted 33 interviews across 20 clinic sites serving 12 counties. Participants described six key factors as potential barriers or facilitators to implementation, including (1) Broader Context, including the surrounding physical and sociodemographic context; (2) Institutional Context, including finances, infrastructure, and personnel; (3) Program Provision, including curriculum, administration, cost, goals, and visibility; (4) Recruitment Process, including screening and referrals; (5) Lifestyle Coaches, including their characteristics, behaviors, and morale; and (6) Cohort, including group attrition/retention and interpersonal dynamics. These factors were both highly interconnected in their impact on implementation and widely variable across sites within the healthcare system, as illustrated in our multi-level conceptual framework.CONCLUSIONS: This study identified key factors that could serve as barriers or facilitators in the implementation of DPP in large healthcare systems, from the perspective of lifestyle coaches. With further examination, the conceptual model presented here may be used for planning and managing the implementation of group-based behavioral interventions in these settings.

    View details for DOI 10.1007/s11606-020-05744-y

    View details for PubMedID 32291720

Clinical Associate Professor, Medicine - Primary Care and Population Health

Publications

  • A framework for making predictive models useful in practice. Journal of the American Medical Informatics Association : JAMIA Jung, K., Kashyap, S., Avati, A., Harman, S., Shaw, H., Li, R., Smith, M., Shum, K., Javitz, J., Vetteth, Y., Seto, T., Bagley, S. C., Shah, N. H. 2020

    Abstract

    OBJECTIVE: To analyze the impact of factors in healthcare delivery on the net benefit of triggering an Advanced Care Planning (ACP) workflow based on predictions of 12-month mortality.MATERIALS AND METHODS: We built a predictive model of 12-month mortality using electronic health record data and evaluated the impact of healthcare delivery factors on the net benefit of triggering an ACP workflow based on the models' predictions. Factors included nonclinical reasons that make ACP inappropriate: limited capacity for ACP, inability to follow up due to patient discharge, and availability of an outpatient workflow to follow up on missed cases. We also quantified the relative benefits of increasing capacity for inpatient ACP versus outpatient ACP.RESULTS: Work capacity constraints and discharge timing can significantly reduce the net benefit of triggering the ACP workflow based on a model's predictions. However, the reduction can be mitigated by creating an outpatient ACP workflow. Given limited resources to either add capacity for inpatient ACP versus developing outpatient ACP capability, the latter is likely to provide more benefit to patient care.DISCUSSION: The benefit of using a predictive model for identifying patients for interventions is highly dependent on the capacity to execute the workflow triggered by the model. We provide a framework for quantifying the impact of healthcare delivery factors and work capacity constraints on achieved benefit.CONCLUSION: An analysis of the sensitivity of the net benefit realized by a predictive model triggered clinical workflow to various healthcare delivery factors is necessary for making predictive models useful in practice.

    View details for DOI 10.1093/jamia/ocaa318

    View details for PubMedID 33355350

  • Variation in the design of Do Not Resuscitate orders and other code status options: a multi-institutional qualitative study. BMJ quality & safety Batten, J. N., Blythe, J. A., Wieten, S., Cotler, M. P., Kayser, J. B., Porter-Williamson, K., Harman, S., Dzeng, E., Magnus, D. 2020

    Abstract

    BACKGROUND: US hospitals typically provide a set of code status options that includes Full Code and Do Not Resuscitate (DNR) but often includes additional options. Although US hospitals differ in the design of code status options, this variation and its impacts have not been empirically studied.DESIGN AND METHODS: Multi-institutional qualitative study at 7 US hospitals selected for variability in geographical location, type of institution and design of code status options. We triangulated across three data sources (policy documents, code status ordering menus and in-depth physician interviews) to characterise the code status options available at each hospital. Using inductive qualitative methods, we investigated design differences in hospital code status options and the perceived impacts of these differences.RESULTS: The code status options at each hospital varied widely with regard to the number of code status options, the names and definitions of code status options, and the formatting and capabilities of code status ordering menus. DNR orders were named and defined differently at each hospital studied. We identified five key design characteristics that impact the function of a code status order. Each hospital's code status options were unique with respect to these characteristics, indicating that code status plays differing roles in each hospital. Physician participants perceived that the design of code status options shapes communication and decision-making practices about resuscitation and life-sustaining treatments, especially at the end of life. We identified four potential mechanisms through which this may occur: framing conversations, prompting decisions, shaping inferences and creating categories.CONCLUSIONS: There are substantive differences in the design of hospital code status options that may contribute to known variability in end-of-life care and treatment intensity among US hospitals. Our framework can be used to design hospital code status options or evaluate their function.

    View details for DOI 10.1136/bmjqs-2020-011222

    View details for PubMedID 33082165

  • What If I Get Seriously Ill? A Virtual Workshop for Advance Care Planning During COVID-19. Journal of pain and symptom management Smith, G. M., Hui, F. A., Bleymaier, C. R., Bragg, A. R., Harman, S. M. 2020

    Abstract

    The coronavirus disease 2019 (COVID-19) has brought public attention to questions regarding the type of care individuals would want to receive in the event of becoming suddenly critically ill. Advance care planning (ACP) is one way to help individuals and families address these questions. However, social distancing, stay-at-home orders, and hospital visitor restrictions have raised new barriers to facilitating these conversations. Here, we describe the implementation and evaluation of a novel, public-facing, 2-part virtual ACP workshop. Participants were recruited through electronic communication, and evaluations were collected through surveys administered after each part of the workshop. We found that utilizing a virtual format allowed us to reach a large, geographically diverse audience. Participants were likely to recommend the workshop to friends and family. There was no change in advance care planning engagement between the post-session surveys between the first and second parts of the workshop.

    View details for DOI 10.1016/j.jpainsymman.2020.08.022

    View details for PubMedID 32835831

Lecturer Sr Research Scholar, Pediatrics - Center for Biomedical Ethics

Publications

  • Higher Breast Cancer Risk Among Immigrant Asian American Women Than Among US-Born Asian American Women PREVENTING CHRONIC DISEASE Morey, B. N., Gee, G. C., von Ehrenstein, O. S., Shariff-Marco, S., Canchola, A. J., Yang, J., Allen, L., Lee, S., Bautista, R., La Chica, T., Tseng, W., Chang, P., Gomez, S. 2019; 16
  • Ethics of inclusion: Cultivate trust in precision medicine. Science (New York, N.Y.) Lee, S. S., Fullerton, S. M., Saperstein, A., Shim, J. K. 2019; 364 (6444): 941–42

    View details for DOI 10.1126/science.aaw8299

    View details for PubMedID 31171685

  • "I don't want to be Henrietta Lacks": diverse patient perspectives on donating biospecimens for precision medicine research. Genetics in medicine : official journal of the American College of Medical Genetics Lee, S. S., Cho, M. K., Kraft, S. A., Varsava, N., Gillespie, K., Ormond, K. E., Wilfond, B. S., Magnus, D. 2018

    Abstract

    PURPOSE: To determine whether patients distinguish between biospecimens and electronic health records (EHRs) when considering research participation to inform research protections.METHODS: We conducted 20 focus groups with individuals who identified as African American, Hispanic, Chinese, South Asian, and non-Hispanic white on the collection of biospecimens and EHR data for research.RESULTS: Our study found that many participants did not distinguish between biospecimens and EHR data. However, some participants identified specific concerns about biospecimens. These included the need for special care and respect for biospecimens due to enduring connections between the body and identity; the potential for unacceptable future research, specifically the prospect of human cloning; heightened privacy risks; and the potential for unjust corporate profiteering. Among those who distinguished biospecimens from EHR data, many supported separate consent processes and would limit their own participation to EHR data.CONCLUSION: Considering that the potential misuse of EHR data is as great as, if not greater than, for biospecimens, more research is needed to understand how attitudes differ between biospecimens and EHR data across diverse populations. Such research should explore mechanisms beyond consent that can address diverse values, perspectives, and misconceptions about sources of patient information to build trust in research relationships.

    View details for PubMedID 29887604

Thomas A. Raffin Professor in Medicine and Biomedical Ethics and Professor (Teaching) of Medicine (Primary Care and Population Health)

Publications

  • Variation in the design of Do Not Resuscitate orders and other code status options: a multi-institutional qualitative study. BMJ quality & safety Batten, J. N., Blythe, J. A., Wieten, S., Cotler, M. P., Kayser, J. B., Porter-Williamson, K., Harman, S., Dzeng, E., Magnus, D. 2020

    Abstract

    BACKGROUND: US hospitals typically provide a set of code status options that includes Full Code and Do Not Resuscitate (DNR) but often includes additional options. Although US hospitals differ in the design of code status options, this variation and its impacts have not been empirically studied.DESIGN AND METHODS: Multi-institutional qualitative study at 7 US hospitals selected for variability in geographical location, type of institution and design of code status options. We triangulated across three data sources (policy documents, code status ordering menus and in-depth physician interviews) to characterise the code status options available at each hospital. Using inductive qualitative methods, we investigated design differences in hospital code status options and the perceived impacts of these differences.RESULTS: The code status options at each hospital varied widely with regard to the number of code status options, the names and definitions of code status options, and the formatting and capabilities of code status ordering menus. DNR orders were named and defined differently at each hospital studied. We identified five key design characteristics that impact the function of a code status order. Each hospital's code status options were unique with respect to these characteristics, indicating that code status plays differing roles in each hospital. Physician participants perceived that the design of code status options shapes communication and decision-making practices about resuscitation and life-sustaining treatments, especially at the end of life. We identified four potential mechanisms through which this may occur: framing conversations, prompting decisions, shaping inferences and creating categories.CONCLUSIONS: There are substantive differences in the design of hospital code status options that may contribute to known variability in end-of-life care and treatment intensity among US hospitals. Our framework can be used to design hospital code status options or evaluate their function.

    View details for DOI 10.1136/bmjqs-2020-011222

    View details for PubMedID 33082165

  • "I don't want to be Henrietta Lacks": diverse patient perspectives on donating biospecimens for precision medicine research. Genetics in medicine : official journal of the American College of Medical Genetics Lee, S. S., Cho, M. K., Kraft, S. A., Varsava, N., Gillespie, K., Ormond, K. E., Wilfond, B. S., Magnus, D. 2018

    Abstract

    PURPOSE: To determine whether patients distinguish between biospecimens and electronic health records (EHRs) when considering research participation to inform research protections.METHODS: We conducted 20 focus groups with individuals who identified as African American, Hispanic, Chinese, South Asian, and non-Hispanic white on the collection of biospecimens and EHR data for research.RESULTS: Our study found that many participants did not distinguish between biospecimens and EHR data. However, some participants identified specific concerns about biospecimens. These included the need for special care and respect for biospecimens due to enduring connections between the body and identity; the potential for unacceptable future research, specifically the prospect of human cloning; heightened privacy risks; and the potential for unjust corporate profiteering. Among those who distinguished biospecimens from EHR data, many supported separate consent processes and would limit their own participation to EHR data.CONCLUSION: Considering that the potential misuse of EHR data is as great as, if not greater than, for biospecimens, more research is needed to understand how attitudes differ between biospecimens and EHR data across diverse populations. Such research should explore mechanisms beyond consent that can address diverse values, perspectives, and misconceptions about sources of patient information to build trust in research relationships.

    View details for PubMedID 29887604

  • Implementing Machine Learning in Health Care - Addressing Ethical Challenges NEW ENGLAND JOURNAL OF MEDICINE Char, D. S., Shah, N. H., Magnus, D. 2018; 378 (11): 981–83

    View details for PubMedID 29539284

    View details for PubMedCentralID PMC5962261

Professor of Psychiatry and Behavioral Sciences (General Psychiatry and Psychology-Adult) and, by courtesy, of Emergency Medicine and of Medicine at the Stanford University Medical Center and, by courtesy, of Law

Publications

Assistant Professor (Research) of Pediatrics (Biomedical Ethics)

Publications

  • Dimensions of Research-Participant Interaction: Engagement is Not a Replacement for Consent. The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics Shearer, E., Martinez, N., Magnus, D. 2020; 48 (1): 183–84

    View details for DOI 10.1177/1073110520917008

    View details for PubMedID 32342787

  • What Are Important Ethical Implications of Using Facial Recognition Technology in Health Care? AMA journal of ethics Martinez-Martin, N. 2019; 21 (2): E180–187

    Abstract

    Applications of facial recognition technology (FRT) in health care settings have been developed to identify and monitor patients as well as to diagnose genetic, medical, and behavioral conditions. The use of FRT in health care suggests the importance of informed consent, data input and analysis quality, effective communication about incidental findings, and potential influence on patient-clinician relationships. Privacy and data protection are thought to present challenges for the use of FRT for health applications.

    View details for DOI 10.1001/amajethics.2019.180

    View details for PubMedID 30794128

  • Data mining for health: staking out the ethical territory of digital phenotyping NPJ DIGITAL MEDICINE Martinez-Martin, N., Insel, T. R., Dagum, P., Greely, H. T., Cho, M. K. 2018; 1
Clinical Professor, Genetics

Publications

  • Clinical Genetics Lacks Standard Definitions and Protocols for the Collection and Use of Diversity Measures. American journal of human genetics Popejoy, A. B., Crooks, K. R., Fullerton, S. M., Hindorff, L. A., Hooker, G. W., Koenig, B. A., Pino, N., Ramos, E. M., Ritter, D. I., Wand, H., Wright, M. W., Yudell, M., Zou, J. Y., Plon, S. E., Bustamante, C. D., Ormond, K. E., Clinical Genome Resource (ClinGen) Ancestry and Diversity Working Group 2020

    Abstract

    Genetics researchers and clinical professionals rely on diversity measures such as race, ethnicity, and ancestry (REA) to stratify study participants and patients for a variety of applications in research and precision medicine. However, there are no comprehensive, widely accepted standards or guidelines for collecting and using such data in clinical genetics practice. Two NIH-funded research consortia, the Clinical Genome Resource (ClinGen) and Clinical Sequencing Evidence-generating Research (CSER), have partnered to address this issue and report how REA are currently collected, conceptualized, and used. Surveying clinical genetics professionals and researchers (n = 448), we found heterogeneity in the way REA are perceived, defined, and measured, with variation in the perceived importance of REA in both clinical and research settings. The majority of respondents (>55%) felt that REA are at least somewhat important for clinical variant interpretation, ordering genetic tests, and communicating results to patients. However, there was no consensus on the relevance of REA, including how each of these measures should be used in different scenarios and what information they can convey in the context of human genetics. A lack of common definitions and applications of REA across the precision medicine pipeline may contribute to inconsistencies in data collection, missing or inaccurate classifications, and misleading or inconclusive results. Thus, our findings support the need for standardization and harmonization of REA data collection and use in clinical genetics and precision health research.

    View details for DOI 10.1016/j.ajhg.2020.05.005

    View details for PubMedID 32504544

  • Informed Consent in the Genomics Era. Cold Spring Harbor perspectives in medicine Rego, S., Grove, M. E., Cho, M. K., Ormond, K. E. 2019

    Abstract

    Informed consent, the process of gathering autonomous authorization for a medical intervention or medical research participation, is a fundamental component of medical practice. Medical informed consent assumes decision-making capacity, voluntariness, comprehension, and adequate information. The increasing use of genetic testing, particularly genomic sequencing, in clinical and research settings has presented many new challenges for clinicians and researchers when obtaining informed consent. Many of these challenges revolve around the need for patient comprehension of sufficient information. Genomic sequencing is complex-all of the possible results are too numerous to explain, and many of the risks and benefits remain unknown. Thus, historical standards of consent are difficult to apply. Alternative models of consent have been proposed to increase patient understanding, and several have empirically demonstrated effectiveness. However, there is still a striking lack of consensus in the genetics community about what constitutes informed consent in the context of genomic sequencing. Multiple approaches are needed to address this challenge, including consensus building around standards, targeted use of genetic counselors in nongenetics clinics in which genomic testing is ordered, and the development and testing of alternative models for obtaining informed consent.

    View details for DOI 10.1101/cshperspect.a036582

    View details for PubMedID 31570382

  • The clinical application of gene editing: ethical and social issues. Personalized medicine Ormond, K. E., Bombard, Y., Bonham, V. L., Hoffman-Andrews, L., Howard, H., Isasi, R., Musunuru, K., Riggan, K. A., Michie, M., Allyse, M. 2019

    Abstract

    Gene-editing techniques have progressed rapidly in the past 5years. There are already ongoing human somatic gene-editing clinical trials for multiple diseases. And there has been one purported scenario of human germline gene editing in late 2018. In this paper, we will review the current state of the technology, discuss the ethical and social issues that surround the various forms of gene editing, as well as review emerging stakeholder data from professionals, the 'general public' and individuals and families dealing with genetic diseases potentially treatable by gene editing.

    View details for DOI 10.2217/pme-2018-0155

    View details for PubMedID 31331245

The Colleen and Robert Haas Professor in Medicine and Biomedical Ethics, Emeritus

Publications

  • Advertising, patient decision making, and self-referral for computed tomographic and magnetic resonance imaging ARCHIVES OF INTERNAL MEDICINE Illes, J., Kann, D., Karetsky, K., Letourneau, P., Raffin, T. A., Schraedley-Desmond, P., Koenig, B. A., Atlas, S. W. 2004; 164 (22): 2415-2419

    Abstract

    Self-referred imaging is one of the latest health care services to be marketed directly to consumers. Most aspects of these services are unregulated, and little is known about the messages in advertising used to attract potential consumers. We conducted a detailed analysis of print advertisements and informational brochures for self-referred imaging with respect to themes, content, accuracy, and emotional valence.Forty print advertisements from US newspapers around the country and 20 informational brochures were analyzed by 2 independent raters according to 7 major themes: health care technology; emotion, empowerment, and assurance; incentives; limited supporting evidence; popular appeal; statistics; and images. The Fisher exact test was used to identify significant differences in information content.Both the advertisements and the brochures emphasized health care and technology information and provided assurances of good health and incentives to self-refer. These materials also encouraged consumers to seek further information from company resources; virtually none referred to noncomplying sources of information or to the risks of having a scan. Images of people commonly portrayed European Americans. We found statistical differences between newspaper advertisements and mailed brochures for references to "prevalence of disease" (P<.001), "death" (P<.003), and "radiation" (P<.001). Statements lacking clear scientific evidence were identified in 38% of the advertisements (n = 15) and 25% of the brochures (n = 5).Direct-to-consumer marketing of self-referred imaging services, in both print advertisements and informational brochures, fails to provide prospective consumers with comprehensive balanced information vital to informed autonomous decision making. Professional guidelines and oversight for advertising and promotion of these services are needed.

    View details for Web of Science ID 000225701900003

    View details for PubMedID 15596630

  • Discovery and disclosure of incidental findings in neuroimaging research 33rd Annual Meeting of the Society-for-Neuroscience Illes, J., Kirschen, M. P., Karetsky, K., Kelly, M., Saha, A., Desmond, J. E., Raffin, T. A., Glover, G. H., Atlas, S. W. JOHN WILEY & SONS INC. 2004: 743–47

    Abstract

    To examine different protocols for handling incidental findings on brain research MRIs, and provide a platform for establishing formal discussions of related ethical and policy issues.Corresponding authors identified from a database of peer-reviewed publications in 1991-2002 involving functional MRI (fMRI), alone or in combination with other imaging modalities, were invited to participate in this web-based survey. The survey asked questions regarding knowledge and handling of incidental findings, as well as characteristics of the scanning environment, training required, IRB protocol requirements, and neuroradiologist involvement.Seventy-four investigators who conduct MRI studies in the United States and abroad responded. Eighty-two percent (54/66) reported discovering incidental findings in their studies, such as arteriovenous malformations, brain tumors, and developmental abnormalities. Substantial variability was found in the procedures for handling and communicating findings to subjects, neuroradiologist involvement, personnel permitted to operate equipment, and training.Guidelines for minimum and optimum standards for detecting and communicating incidental findings on brain MRI research are needed.

    View details for DOI 10.1002/jmri.20180

    View details for Web of Science ID 000224762700001

    View details for PubMedID 15503329

    View details for PubMedCentralID PMC1506385

  • Chylothorax after heart/lung transplantation JOURNAL OF HEART AND LUNG TRANSPLANTATION Ziedalski, T. M., Raffin, T. A., Sze, D. Y., Mitchell, J. D., Robbins, R. C., Theodore, J., Faul, J. L. 2004; 23 (5): 627-631

    Abstract

    Chylothorax is a potentially serious complication of lung and heart-lung transplantation. This article describes the clinical course of chylothorax in 3 heart-lung allograft recipients. We discuss management options, including dietary modifications, octreotide infusion, thoracic duct ligation and embolization, and surgical pleurodesis. In addition, we describe the novel use of aminocaproic acid to reduce lymph flow. We propose a multidisciplinary approach for the management of chylothorax that includes both medical and surgical options.

    View details for Web of Science ID 000221393700018

    View details for PubMedID 15135382

Postdoctoral Research Fellow, Biomedical Ethics

Publications

  • Ethics and Informatics in the Age of COVID-19: Challenges and Recommendations for Public Health Organization and Public Policy. Journal of the American Medical Informatics Association : JAMIA Subbian, V., Solomonides, A., Clarkson, M., Rahimzadeh, V. N., Petersen, C., Schreiber, R., DeMuro, P. R., Dua, P., Goodman, K. W., Kaplan, B., Koppel, R., Lehmann, C. U., Pan, E., Senathirajah, Y. 2020

    Abstract

    The COVID-19 pandemic response in the United States has exposed significant gaps in information systems and processes to enable timely clinical and public health decision-making. Specifically, the use of informatics to mitigate the spread of SARS-CoV-2, support COVID-19 care delivery, and accelerate knowledge discovery bring to the forefront issues of privacy, surveillance, limits of state powers, and interoperability between public health and clinical information systems. Using a consensus building process, we critically analyze informatics-related ethical issues in light of the pandemic across three themes: (1) public health reporting and data sharing, (2) contact tracing and tracking, and (3) clinical scoring tools for critical care. We provide context and rationale for ethical considerations and recommendations that are actionable during the pandemic, and conclude with recommendations calling for long-term, broader change (beyond the pandemic) for public health organization and policy reform.

    View details for DOI 10.1093/jamia/ocaa188

    View details for PubMedID 32722749

  • Pros and cons of prosent as an alternative to traditional consent in medical research. Journal of medical ethics Rahimzadeh, V. N. 2020

    Abstract

    In their recent article, Porsdam Mann et al propose to share biomedical research data more widely, securely and efficiently using blockchain technologies.1 They present compelling arguments for how the blockchain presents both a technological innovation, and a deontologically grounded policy innovation to traditional research consent. Their proposal can be read in conversation with a rich body of evidence to suggest current consent processes are problematic on at least one of tripartite bases in biomedical research: that it be fully informed. This response attempts to further the author's discussion of social justice discourse in, and of their proposed prosent model to enhance engagement among under-represented and vulnerable populations in research, specifically. Motivating this response is the view that advancing technological capabilities is no doubt necessary, but on its own insufficient to reinvigorate distributive, procedural and social justice as guiding principles for con/prosent processes. I offer three pros and cons to consider in effort to deepen the model's commitments to social justice to historically marginalised groups in the biomedical research enterprise.

    View details for DOI 10.1136/medethics-2020-106443

    View details for PubMedID 32571849

  • Ethical, Legal, and Social Issues (ELSI) of Responsible Data Sharing Involving Children in Genomics: A Systematic Literature Review of Reasons. AJOB empirical bioethics Rahimzadeh, V., Knoppers, B. M., Bartlett, G. 2020: 1–13

    Abstract

    Progress in precision medicine relies on the access to, use of, and exchange of genomic and associated clinical data, including from children. The ethical, legal, and social issues (ELSI) of such data access, use, and exchange may be accentuated in the pediatric context due in part to the highly sensitive nature of genomic data, children's consent-related vulnerabilities, and uncertain risks of reidentification. Systematic analyses of the ELSI and scientific reasons for why and how genomic data may be shared responsibly are, however, limited. Methods: We conducted a modified systematic review of reasons according to Sofaer and Strech to examine the ELSI and scientific reasons for "responsible" sharing of children's genomic and associated clinical data. Empirical articles, commentaries, and data-sharing policies indexed in Medline, Scopus, Web of Science, and BIOSIS were included in the analysis if they discussed ELSI and were published between 2003 and 2017 in English. Results: One hundred and fifty-one records met our inclusion criteria. We identified 11 unique reasons and 8 subreasons for why children's genomic data should or should not be shared. Enhancing the prospect of direct and indirect benefits and maximizing the utility of children's data were top reasons why data should be shared. Inadequate data privacy protection was the leading reason why it should not. We furthermore identified 8 reasons and 30 subreasons that support conditional data sharing, in which recontact for the continued use of children's data once they reach the age of majority was the most frequently endorsed condition. Conclusions: The complete list of ELSI reasons and responsible conditions provides an evidentiary basis upon which institutions can develop data-sharing policies. Institutions should encourage the sharing of children's data to advance genomic research, while heeding special reconsent and data protection mechanisms that may help mitigate uncertain longitudinal risks for children and families.

    View details for DOI 10.1080/23294515.2020.1818875

    View details for PubMedID 32975491

Adjunct Clinical Associate Professor, Pediatrics - Center for Biomedical Ethics
Professor of Anesthesiology, Perioperative and Pain Medicine at the Palo Alto Veterans Affairs Health Care System

Publications

Associate Professor of Medicine (General Medical Disciplines) and, by courtesy, of Epidemiology and Population Health at the Stanford University Medical Center

Publications

  • "It seems like COVID-19 now is the only disease present on Earth": living with a rare or undiagnosed disease during the COVID-19 pandemic. Genetics in medicine : official journal of the American College of Medical Genetics Halley, M. C., Stanley, T., Maturi, J., Goldenberg, A. J., Bernstein, J. A., Wheeler, M. T., Tabor, H. K. 2021

    Abstract

    Patients with rare and undiagnosed diseases (RUDs) face significant health challenges, which may be exacerbated during the COVID-19 pandemic. The goal of this study was to identify specific impacts of the pandemic on RUD patients, and targets for improving support and health-care access.We conducted an online survey of RUD patients and their family members from 21 April to 8 June 2020, recruited from 76 Facebook groups for RUDs. Questions assessed patient characteristics and impacts of the pandemic on RUD diagnosis and management.Respondents (n = 413), including 274 RUD patients and 139 family members, were predominantly female and white, though income varied. Impacts of the pandemic included (1) barriers to accessing essential health care, (2) specific impacts of restrictive COVID-19 visitation policies on ability to advocate in health-care settings, (3) uncertainty and fear regarding COVID-19 risk, (4) exacerbated physical and mental health challenges, (5) magnified impacts of reduced educational and therapeutic services, and (6) unexpected positive changes due to the pandemic.There are specific, serious challenges affecting RUD patients and families during the COVID-19 pandemic. There is an urgent need to develop approaches to mitigate these challenges both during and beyond the pandemic.

    View details for DOI 10.1038/s41436-020-01069-7

    View details for PubMedID 33420343

  • Patient and family social media use surrounding a novel treatment for a rare genetic disease: a qualitative interview study. Genetics in medicine : official journal of the American College of Medical Genetics Iyer, A. A., Barzilay, J. R., Tabor, H. K. 2020

    Abstract

    PURPOSE: Advances in gene therapy and precision medicine have led to a growing number of novel treatments for rare genetic diseases. Patients/families may lack access to up-to-date, accurate, and relevant information about these treatments. Social media offers one potentially important resource for these communities. Our goal was to understand how patients/families with spinal muscular atrophy (SMA)-a rare genetic condition-used social media to share, consume, and evaluate information about the novel treatment nusinersen (Spinraza) following the drug's approval.METHODS: We conducted qualitative, semistructured interviews with 20 SMA patients or parents of patients, deriving themes and subthemes through content and thematic network analysis. Participants also completed a demographic survey.RESULTS: Participants described leveraging social media to learn about nusinersen treatment, make informed treatment decisions, and advocate for/access treatment. They also described critically evaluating the trustworthiness of nusinersen-related information on social media and the privacy risks of social media use.CONCLUSION: Patients/families used social media to navigate the new and dynamic landscape of nusinersen treatment for SMA, while attempting to mitigate misinformation and privacy risks. As new treatments become available, providers and patients/families may benefit from proactively discussing social media use, so as to maximize important benefits while minimizing risks.

    View details for DOI 10.1038/s41436-020-0890-6

    View details for PubMedID 32601388

  • De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation. American journal of human genetics Mao, D., Reuter, C. M., Ruzhnikov, M. R., Beck, A. E., Farrow, E. G., Emrick, L. T., Rosenfeld, J. A., Mackenzie, K. M., Robak, L., Wheeler, M. T., Burrage, L. C., Jain, M., Liu, P., Calame, D., Küry, S., Sillesen, M., Schmitz-Abe, K., Tonduti, D., Spaccini, L., Iascone, M., Genetti, C. A., Koenig, M. K., Graf, M., Tran, A., Alejandro, M., Lee, B. H., Thiffault, I., Agrawal, P. B., Bernstein, J. A., Bellen, H. J., Chao, H. T. 2020

    Abstract

    EIF2AK1 and EIF2AK2 encode members of the eukaryotic translation initiation factor 2 alpha kinase (EIF2AK) family that inhibits protein synthesis in response to physiologic stress conditions. EIF2AK2 is also involved in innate immune response and the regulation of signal transduction, apoptosis, cell proliferation, and differentiation. Despite these findings, human disorders associated with deleterious variants in EIF2AK1 and EIF2AK2 have not been reported. Here, we describe the identification of nine unrelated individuals with heterozygous de novo missense variants in EIF2AK1 (1/9) or EIF2AK2 (8/9). Features seen in these nine individuals include white matter alterations (9/9), developmental delay (9/9), impaired language (9/9), cognitive impairment (8/9), ataxia (6/9), dysarthria in probands with verbal ability (6/9), hypotonia (7/9), hypertonia (6/9), and involuntary movements (3/9). Individuals with EIF2AK2 variants also exhibit neurological regression in the setting of febrile illness or infection. We use mammalian cell lines and proband-derived fibroblasts to further confirm the pathogenicity of variants in these genes and found reduced kinase activity. EIF2AKs phosphorylate eukaryotic translation initiation factor 2 subunit 1 (EIF2S1, also known as EIF2α), which then inhibits EIF2B activity. Deleterious variants in genes encoding EIF2B proteins cause childhood ataxia with central nervous system hypomyelination/vanishing white matter (CACH/VWM), a leukodystrophy characterized by neurologic regression in the setting of febrile illness and other stressors. Our findings indicate that EIF2AK2 missense variants cause a neurodevelopmental syndrome that may share phenotypic and pathogenic mechanisms with CACH/VWM.

    View details for DOI 10.1016/j.ajhg.2020.02.016

    View details for PubMedID 32197074

Postdoctoral Research Fellow, Biomedical Ethics

Publications

  • "Race was something we didn't talk about": Racial Socialization in Asian American Families FAMILY RELATIONS Young, J. L., Kim, H., Golojuch, L. 2020

    View details for DOI 10.1111/fare.12495

    View details for Web of Science ID 000568410600001

  • Waiting and "weighted down": the challenge of anticipatory loss for individuals and families with Li-Fraumeni Syndrome. Familial cancer Werner-Lin, A., Young, J. L., Wilsnack, C., Merrill, S. L., Groner, V., Greene, M. H., Khincha, P. P. 2020

    Abstract

    Li-Fraumeni Syndrome (LFS) is characterized by risk of multiple primary malignancies in diverse sites, pediatric onset, near complete penetrance by age 70years, limited options for prevention, and substantial uncertainty regarding disease manifestation and prognosis. Forty-five families, including 117 individuals aged 13-81years, enrolled in the US National Cancer Institute's Li-Fraumeni Syndrome Study completed 66 interviews regarding their LFS experiences. An interdisciplinary team used modified grounded theory to examine family distress regarding expectations of loss and change due to likely cancer diagnoses, and the consequences of this likelihood across physical, social, and emotional domains. Disease-free periods were characterized by fearful anticipation of diagnosis or recurrence, uncertainty regarding post-treatment quality of life, and planning for shifts in family dynamics to enable caregiving. The chronicity of waiting for these changes incited dread and inhibited effective coping with the pragmatic, emotional, and existential challenges of the syndrome. Consequently, families reported high burden on roles and resources and limited guidance to prepare for, or achieve resolution with, grief. Anticipatory loss, the experience of bereavement prior to an expected change, distinguishes hereditary cancer risk from a sporadic diagnosis. Such grief is often incomplete in impact or meaning, subjected to rapid or profound change as conditions worsen, and poorly understood. In this study, losses were compounded by profound uncertainty, a chronic feature of LFS, which compromised mourning. Long-term engagement of mental health providers with bereavement training, in partnership with genetics providers, can provide invaluable educational and psychological support to families as they navigate these implacable challenges.

    View details for DOI 10.1007/s10689-020-00173-6

    View details for PubMedID 32222840

  • Health behavior change is related to management of cancer worry for families with Li-Fraumeni syndrome: "If you just change your diet, you're going to get cured" Wilsnack, C., Sleight, A., Young, J., Greene, M. H., Khincha, P. P., Groner, V., Werner-Lin, A. WILEY. 2020: 99–100