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

Publications

  • Palliative care interventions in intensive care unit patients (vol 47, pg 1415, 2021) INTENSIVE CARE MEDICINE Metaxa, V., Anagnostou, D., Vlachos, S., Arulkumaran, N., Bensemmane, S., van Dusseldorp, I., Aslakson, R. A., Davidson, J. E., Gerritsen, R. T., Hartog, C., Curtis, J. 2021

    View details for DOI 10.1007/s00134-021-06600-1

    View details for Web of Science ID 000732505300001

    View details for PubMedID 34932143

  • Palliative care interventions in intensive care unit patients. Intensive care medicine Metaxa, V., Anagnostou, D., Vlachos, S., Arulkumaran, N., Besemmane, S., van Dusseldorp, I., Aslakson, R. A., Davidson, J. E., Gerritsen, R. T., Hartog, C., Curtis, J. R. 2021

    Abstract

    PURPOSE: The integration of palliative care into intensive care units (ICUs) is advocated to mitigate physical and psychological burdens for patients and their families, and to improve end-of-life care. The most efficacious palliative care interventions, the optimal model of their delivery and the most appropriate outcome measures in ICU are not clear.METHODS: We conducted a systematic review of randomised clinical trials and observational studies to evaluate the number and types of palliative care interventions implemented within the ICU setting, to assess their impact on ICU practice and to evaluate differences in palliative care approaches across different countries.RESULTS: Fifty-eight full articles were identified, including 9 randomised trials and 49 cohort studies; all but 4 were conducted within North America. Interventions were categorised into five themes: communication (14, 24.6%), ethics consultations (5, 8.8%), educational (18, 31.6%), involvement of a palliative care team (28, 49.1%) and advance care planning or goals-of-care discussions (7, 12.3%). Thirty studies (51.7%) proposed an integrative model, whilst 28 (48.3%) reported a consultative one. The most frequently reported outcomes were ICU or hospital length of stay (33/55, 60%), limitation of life-sustaining treatment decisions (22/55, 40%) and mortality (15/55, 27.2%). Quantitative assessment of pooled data was not performed due to heterogeneity in interventions and outcomes between studies.CONCLUSION: Beneficial effects on the most common outcomes were associated with strategies to enhance palliative care involvement, either with an integrative or a consultative approach. Few studies reported functional outcomes for ICU patients. Almost all studies were from North America, limiting the generalisability to other healthcare systems.

    View details for DOI 10.1007/s00134-021-06544-6

    View details for PubMedID 34652465

  • Navigating the Complex Ecosystem of Race, Ethnicity, Structural Racism, Socioeconomic Factors, Medical Care Delivery, and End-of-Life Care-Casting Away the Compass to Make a Map. JAMA network open Boateng, A., Aslakson, R. A. 2021; 4 (9): e2126348

    View details for DOI 10.1001/jamanetworkopen.2021.26348

    View details for PubMedID 34550388

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

Associate Professor of Anesthesiology, Perioperative and Pain Medicine (Pediatric)

Publications

  • Foundational Considerations for Artificial Intelligence Utilizing Ophthalmic Images. Ophthalmology Abramoff, M. D., Cunningham, B., Patel, B., Eydelman, M. B., Leng, T., Sakamoto, T., Blodi, B., Grenon, S. M., Wolf, R. M., Manrai, A. K., Ko, J. M., Chiang, M. F., Char, D., Collaborative Community on Ophthalmic Imaging Executive Committee and Foundational Principles of Ophthalmic Imaging and Algorithmic Interpretation Working Group 2021

    Abstract

    IMPORTANCE: The development of Artificial Intelligence (AI) and other machine diagnostic systems, also known as Software as a Medical Device (SaMD), and its recent introduction into clinical practice, requires a deeply-rooted foundation in bioethics, for consideration by regulatory agencies and other stakeholders around the globe.OBJECTIVES: Initiate a dialogue on the issues to consider when developing a bioethically sound foundation for AI in medicine, based on images of eye structures, for discussion with all stakeholders.EVIDENCE REVIEW: The scope of the issues and summaries of the discussions under consideration by the Foundational Principles of Ophthalmic Imaging and Algorithmic Interpretation Working Group, as first presented during the Collaborative Community on Ophthalmic Imaging inaugural meeting on September 7, 2020, and afterwards in the working group.FINDINGS: AI has the potential to fundamentally improve the access to healthcare and patient outcomes, while decreasing disparities, lowering cost, as well as enhancing the care team. Nevertheless, substantial concerns exist. Ethicists, AI algorithm experts, as well as the Food and Drug Administration (FDA) and other regulatory agencies, industry, patient advocacy groups, clinicians and their professional societies, other provider groups, payors, and other healthcare stakeholders working together in collaborative communities to resolve such issues as non-maleficence, autonomy and equity, is essential to attain this potential, and impacts all levels of the design, validation and implementation of AI in medicine. Design, validation and implementation of AI warrant meticulous attention.CONCLUSIONS AND RELEVANCE: The development of a bioethically sound foundation may be possible if it is based in non-maleficence, autonomy and equity, for considerations for the design, validation and implementation for AI systems. Achieving such a foundation will be helpful for continuing successful introduction into medicine, before consideration by regulatory agencies around the globe.Fundamental improvements in accessibility and quality of healthcare, decrease in health disparities, and lower cost can thereby be achieved. These considerations should be discussed with all stakeholders and expanded upon as a useful initiation of this dialogue.

    View details for DOI 10.1016/j.ophtha.2021.08.023

    View details for PubMedID 34478784

  • Compassionate Deactivation of Ventricular Assist Devices in Children with Heart Failure. ASAIO journal (American Society for Artificial Internal Organs : 1992) Char, D. S., Hollander, S. A., Feudtner, C. 2021

    View details for DOI 10.1097/MAT.0000000000001545

    View details for PubMedID 34352820

  • Parental Attitudes Toward Clinical Genomic Sequencing in Children With Critical Cardiac Disease. Pediatric critical care medicine : a journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies Gal, D. B., Deuitch, N., Lee, S. S., Simon, R. T., Char, D. S. 2021

    Abstract

    OBJECTIVES: Through improving diagnostics and prognostics genomic sequencing promises to significantly impact clinical decisions for children with critical cardiac disease. Little is known about how families of children with critical cardiac disease perceive the impact of genomic sequencing on clinical care choices.DESIGN: Qualitative interview study.SETTING: A high-volume, tertiary pediatric heart center.SUBJECTS: Families of children with critical cardiac disease.INTERVENTIONS: None.MEASUREMENTS AND MAIN RESULTS: Thematic analysis of interview response content. Thirty-five families were interviewed. Three themes emerged: 1) benefits versus challenges of having genomic sequencing results, and 2) fears of clinical applications of genomic sequencing, and 3) nonclinical fears related to genomic sequencing. Participants struggled with perceived uses of genomic sequencing-derived knowledge. They described comfort in foreknowledge of their child's likely disease course but articulated significant apprehension around participating in care decisions with limited knowledge of genomic sequencing, genomic sequencing uses to inform clinical resource rationing decisions, and genomic sequencing uses by third parties impacting financial pressures families experience caring for a child with critical cardiac disease.CONCLUSIONS: Families' perceptions of genomic sequencing uses in critical cardiac disease appear to strain their overall trust in the health system. Erosion of trust is concerning because the potential of genomic sequencing in critical cardiac disease will be unrealized if families are unwilling to undergo genomic sequencing, let alone to participate in the ongoing research needed to link genomic sequencing variants to clinical outcomes. Our findings may have implications for genomic sequencing use in children with other critical, high-acuity diseases.

    View details for DOI 10.1097/PCC.0000000000002669

    View details for PubMedID 33591072

Professor (Research) of Pediatrics (Center for Biomedical Ethics) and of Medicine (Primary Care and Polulation Health)

Publications

  • Rising to the challenge of bias in health care AI. Nature medicine Cho, M. K. 2021

    View details for DOI 10.1038/s41591-021-01577-2

    View details for PubMedID 34893774

  • Diverse experts' perspectives on ethical issues of using machine learning to predict HIV/AIDS risk in sub-Saharan Africa: a modified Delphi study. BMJ open Nichol, A. A., Bendavid, E., Mutenherwa, F., Patel, C., Cho, M. K. 2021; 11 (7): e052287

    Abstract

    OBJECTIVE: To better understand diverse experts' views about the ethical implications of ongoing research funded by the National Institutes of Health that uses machine learning to predict HIV/AIDS risk in sub-Saharan Africa (SSA) based on publicly available Demographic and Health Surveys data.DESIGN: Three rounds of semi-structured surveys in an online expert panel using a modified Delphi approach.PARTICIPANTS: Experts in informatics, African public health and HIV/AIDS and bioethics were invited to participate.MEASURES: Perceived importance of or agreement about relevance of ethical issues on 5-point unipolar Likert scales. Qualitative data analysis identified emergent themes related to ethical issues and development of an ethical framework and recommendations for open-ended questions.RESULTS: Of the 35 invited experts, 22 participated in the online expert panel (63%). Emergent themes were the inclusion of African researchers in all aspects of study design, analysis and dissemination to identify and address local contextual issues, as well as engagement of communities. Experts focused on engagement with health and science professionals to address risks, benefits and communication of findings. Respondents prioritised the mitigation of stigma to research participants but recognised trade-offs between privacy and the need to disseminate findings to realise public health benefits. Strategies for responsible communication of results were suggested, including careful word choice in presentation of results and limited dissemination to need-to-know stakeholders such as public health planners.CONCLUSION: Experts identified ethical issues specific to the African context and to research on sensitive, publicly available data and strategies for addressing these issues. These findings can be used to inform an ethical implementation framework with research stage-specific recommendations on how to use publicly available data for machine learning-based predictive analytics to predict HIV/AIDS risk in SSA.

    View details for DOI 10.1136/bmjopen-2021-052287

    View details for PubMedID 34321310

  • Ethical Development of Digital Phenotyping Tools for Mental Health Applications: Delphi Study. JMIR mHealth and uHealth Martinez-Martin, N., Greely, H. T., Cho, M. K. 2021; 9 (7): e27343

    Abstract

    BACKGROUND: Digital phenotyping (also known as personal sensing, intelligent sensing, or body computing) involves the collection of biometric and personal data in situ from digital devices, such as smartphones, wearables, or social media, to measure behavior or other health indicators. The collected data are analyzed to generate moment-by-moment quantification of a person's mental state and potentially predict future mental states. Digital phenotyping projects incorporate data from multiple sources, such as electronic health records, biometric scans, or genetic testing. As digital phenotyping tools can be used to study and predict behavior, they are of increasing interest for a range of consumer, government, and health care applications. In clinical care, digital phenotyping is expected to improve mental health diagnoses and treatment. At the same time, mental health applications of digital phenotyping present significant areas of ethical concern, particularly in terms of privacy and data protection, consent, bias, and accountability.OBJECTIVE: This study aims to develop consensus statements regarding key areas of ethical guidance for mental health applications of digital phenotyping in the United States.METHODS: We used a modified Delphi technique to identify the emerging ethical challenges posed by digital phenotyping for mental health applications and to formulate guidance for addressing these challenges. Experts in digital phenotyping, data science, mental health, law, and ethics participated as panelists in the study. The panel arrived at consensus recommendations through an iterative process involving interviews and surveys. The panelists focused primarily on clinical applications for digital phenotyping for mental health but also included recommendations regarding transparency and data protection to address potential areas of misuse of digital phenotyping data outside of the health care domain.RESULTS: The findings of this study showed strong agreement related to these ethical issues in the development of mental health applications of digital phenotyping: privacy, transparency, consent, accountability, and fairness. Consensus regarding the recommendation statements was strongest when the guidance was stated broadly enough to accommodate a range of potential applications. The privacy and data protection issues that the Delphi participants found particularly critical to address related to the perceived inadequacies of current regulations and frameworks for protecting sensitive personal information and the potential for sale and analysis of personal data outside of health systems.CONCLUSIONS: The Delphi study found agreement on a number of ethical issues to prioritize in the development of digital phenotyping for mental health applications. The Delphi consensus statements identified general recommendations and principles regarding the ethical application of digital phenotyping to mental health. As digital phenotyping for mental health is implemented in clinical care, there remains a need for empirical research and consultation with relevant stakeholders to further understand and address relevant ethical issues.

    View details for DOI 10.2196/27343

    View details for PubMedID 34319252

Postdoctoral Scholar, 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. n., Koch, C. n., Grady, C. n., Pașca, S. P., Sestan, N. n., Arlotta, P. n., Bernat, J. L., Ting, J. n., Lunshof, J. E., Iyer, E. P., Hyun, I. n., Capestany, B. H., Church, G. M., Huang, H. n., Song, H. n. 2018; 556 (7702): 429–32

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

    View details for PubMedID 29691509

Sr Research Scholar, School of Medicine - Biomedical Ethics

Publications

  • Perceived utility and disutility of genomic sequencing for pediatric patients: Perspectives from parents with diverse sociodemographic characteristics. American journal of medical genetics. Part A Halley, M. C., Young, J. L., Fernandez, L., Kohler, J. N., Undiagnosed Diseases Network, Bernstein, J. A., Wheeler, M. T., Tabor, H. K. 1800

    Abstract

    Given the limited therapeutic options for most rare diseases diagnosed through genomic sequencing (GS) and the proportion of patients who remain undiagnosed even after GS, it is important to characterize a broader range of benefits and potential harms of GS from the perspectives of families with diverse sociodemographic characteristics. We recruited parents of children enrolled in the Undiagnosed Diseases Network. Parents completed an in-depth interview, and we conducted a comparative content analysis of the data. Parents (n=30) were demographically diverse, with 43.3% identifying as Hispanic, 33.3% primarily Spanish-speaking, and widely variable household income and education. Parents reported minimal changes in their child's health status following GS but did report a range of other forms of perceived utility, including improvements in their child's healthcare management and access, in their own psychological well-being, and in disease-specific social connections and research opportunities. Parents who received a diagnosis more frequently perceived utility across all domains; however, disutility also was reported by both those with and without a diagnosis. Impacts depended on multiple mediating factors, including parents' underlying expectations and beliefs, family sociodemographic characteristics, individual disease characteristics, and prior healthcare access. Our study suggests that the perceived utility of GS varies widely among parents and may depend on multiple individual, sociodemographic, and contextual factors that are relevant for pre- and post-GS counseling, for value assessment of GS, and for policymaking related to access to new genomic technologies.

    View details for DOI 10.1002/ajmg.a.62619

    View details for PubMedID 34981646

  • From "Ought" to "Is": Surfacing Values in Patient and Family Advocacy in Rare Diseases. The American journal of bioethics : AJOB Halley, M. C. 2021; 21 (12): 1-3

    View details for DOI 10.1080/15265161.2021.1996801

    View details for PubMedID 34806973

  • Opportunities and pitfalls of social media research in rare genetic diseases: a systematic review. Genetics in medicine : official journal of the American College of Medical Genetics Miller, E. G., Woodward, A. L., Flinchum, G., Young, J. L., Tabor, H. K., Halley, M. C. 2021

    Abstract

    PURPOSE: Social media may be particularly valuable in research in rare genetic diseases because of the low numbers of patients and the rare disease community's robust online presence. The goal of this systematic review was to understand how social media is currently used in rare disease research and the characteristics of the participants in these studies.METHODS: We conducted a systematic review of six databases to identify studies published in English between January 2004 and November 2020, of which 120 met inclusion criteria.RESULTS: Most studies were observational (n=114, 95.0%) and cross-sectional (n=107, 89.2%), and more than half (n=69, 57.5%) utilized only surveys. Only 101 rare diseases were included across all studies. Participant demographics, when reported, were predominantly female (70.1% ± 22.5%) and white (85.0% ± 11.0%) adult patients and caregivers.CONCLUSION: Despite its potential benefits in rare disease research, the use of social media is still methodologically limited and the participants reached may not be representative of the rare disease population by gender, race, age, or rare disease type. As scholars explore using social media for rare disease research, careful attention should be paid to representativeness when studying this diverse patient community.

    View details for DOI 10.1038/s41436-021-01273-z

    View details for PubMedID 34282302

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

Sr Research Scholar, Pediatrics - Center for Biomedical Ethics

Publications

  • Excavating the Personal Genome: The Good Biocitizen in the Age of Precision Health HASTINGS CENTER REPORT Lee, S. 2020; 50: S54–S61

    Abstract

    The rise of genomic technologies has catalyzed shifts in the health care landscape through the commercialization of genome sequencing and testing services in the genomics marketplace. The development of consumer genomics into a growing array of information technologies aimed at collecting, curating, and broadly sharing personal data and biological materials reconstitutes the meaning of health and reframes patients into biocitizens. In this context, the good biocitizen is expected to assume personal responsibility for health through consumption of genomic information and acquiescence to public and private efforts at data surveillance and aggregation. These shifts raise fundamental questions about how competing interests of the public, the state, and corporate entities will be reconciled and what trade-offs are demanded for the promise of precision health.

    View details for DOI 10.1002/hast.1156

    View details for Web of Science ID 000543918300008

    View details for PubMedID 32597530

  • Integrating stakeholder feedback in translational genomics research: an ethnographic analysis of a study protocol's evolution. Genetics in medicine : official journal of the American College of Medical Genetics Kraft, S. A., McMullen, C. n., Lindberg, N. M., Bui, D. n., Shipman, K. n., Anderson, K. n., Joseph, G. n., Duenas, D. M., Porter, K. M., Kauffman, T. L., Koomas, A. n., Ransom, C. L., Jackson, P. n., Goddard, K. A., Wilfond, B. S., Lee, S. S. 2020

    Abstract

    This study describes challenges faced while incorporating sometimes conflicting stakeholder feedback into study design and development of patient-facing materials for a translational genomics study aiming to reduce health disparities among diverse populations.We conducted an ethnographic analysis of study documents including summaries of patient advisory committee meetings and interviews, reflective field notes written by study team members, and correspondence with our institutional review board (IRB). Through this analysis, we identified cross-cutting challenges for incorporating stakeholder feedback into development of our recruitment, risk assessment, and informed consent processes and materials.Our analysis revealed three key challenges: (1) balancing precision and simplicity in the design of study materials, (2) providing clinical care within the research context, and (3) emphasizing potential study benefits versus risks and limitations.While involving patient stakeholders in study design and materials development can increase inclusivity and responsiveness to patient needs, patient feedback may conflict with that of content area experts on the research team and IRBs who are tasked with overseeing the research. Our analysis highlights the need for further empirical research about ethical challenges when incorporating patient feedback into study design, and for dialogue with genomic researchers and IRB representatives about these issues.

    View details for DOI 10.1038/s41436-020-0763-z

    View details for PubMedID 32089547

  • Obligations of the "Gift": Reciprocity and Responsibility in Precision Medicine. The American journal of bioethics : AJOB Lee, S. S. 2020: 1–15

    Abstract

    Precision medicine relies on data and biospecimens from participants who willingly offer their personal information on the promise that this act will ultimately result in knowledge that will improve human health. Drawing on anthropological framings of the "gift," this paper contextualizes participation in precision medicine as inextricable from social relationships and their ongoing ethical obligations. Going beyond altruism, reframing biospecimen and data collection in terms of socially regulated gift-giving recovers questions of responsibility and care. As opposed to conceiving participation in terms of donations that elide clinical labor critical to precision medicine, the gift metaphor underscores ethical commitments to reciprocity and responsibility. This demands confronting inequities in precision medicine, such as systemic bias and lack of affordability and access. A focus on justice in precision medicine that recognizes the sociality of the gift is a critical frontier for bioethics.

    View details for DOI 10.1080/15265161.2020.1851813

    View details for PubMedID 33325811

Thomas A. Raffin Professor of 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

John and Terry Levin Family Professor of Medicine and Professor, by courtesy, of Emergency Medicine and of Medicine

Publications

  • Psychosocial assessment of transplant candidates: Inter-rater reliability and concurrent validity of the Japanese version of the Stanford Integrated Psychosocial Assessment for Transplantation (SIPAT). Journal of the Academy of Consultation-Liaison Psychiatry Satoko, I., Oshibuchi, H., Tsutsui, J., Kobayashi, S., Takano, K., Sugawara, H., Kamba, R., Akaho, R., Ishida, H., Maldonado, J., Nishimura, K. 2021

    Abstract

    BACKGROUND: The Stanford Integrated Psychosocial Assessment for Transplantation (SIPAT) is a comprehensive instrument developed to provide a standardized, objective, and evidence-based psychosocial evaluation of the main pre-transplant psychosocial risk factors that may influence transplant outcomes.OBJECTIVE: Since established assessment procedures or standardized tools designed to perform pre-solid organ transplant psychosocial evaluation are currently unavailable in Japan, the present study aimed to develop and preliminarily validate the Japanese version of the SIPAT.METHODS: First, the Japanese version of the SIPAT was developed using standard forward-back-translation procedures. Then, the Japanese versions of the SIPAT and the Japanese version of Psychosocial Assessment of Candidates for Transplant (PACT) were retrospectively and blindly applied to 107 transplant cases by 4 independent raters.RESULTS: The interrater reliability of the scores obtained with the Japanese version of the SIPAT was excellent (Pearson's correlation coefficient = 0.86). The concurrent validity of the SIPAT to the PACT for each examiner was substantial (Spearman's rank correlation coefficient = -0.66).CONCLUSION: These findings suggest that the Japanese version of the SIPAT is a promising and reliable instrument. Further research is required to test the predictive validity of the Japanese version of the SIPAT.

    View details for DOI 10.1016/j.jaclp.2021.10.004

    View details for PubMedID 34863909

  • Research Needs for Inpatient Management of Severe Alcohol Withdrawal Syndrome An Official American Thoracic Society Research Statement AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE Steel, T. L., Afshar, M., Edwards, S., Jolley, S. E., Timko, C., Clark, B. J., Douglas, I. S., Dzierba, A. L., Gershengorn, H. B., Gilpin, N. W., Godwin, D. W., Hough, C. L., Maldonado, J. R., Mehta, A. B., Nelson, L. S., Patel, M. B., Rastegar, D. A., Stollings, J. L., Tabakoff, B., Tate, J. A., Wong, A., Burnham, E. L., Amer Thoracic Soc Assembly Critica, Assembly Behav Sci Hlth Serv Res, Assembly Nursing 2021; 204 (7): E61-E87

    Abstract

    Background: Severe alcohol withdrawal syndrome (SAWS) is highly morbid, costly, and common among hospitalized patients, yet minimal evidence exists to guide inpatient management. Research needs in this field are broad, spanning the translational science spectrum. Goals: This research statement aims to describe what is known about SAWS, identify knowledge gaps, and offer recommendations for research in each domain of the Institute of Medicine T0-T4 continuum to advance the care of hospitalized patients who experience SAWS. Methods: Clinicians and researchers with unique and complementary expertise in basic, clinical, and implementation research related to unhealthy alcohol consumption and alcohol withdrawal were invited to participate in a workshop at the American Thoracic Society 2019 International Conference. The committee was subdivided into four groups on the basis of interest and expertise: T0-T1 (basic science research with translation to humans), T2 (research translating to patients), T3 (research translating to clinical practice), and T4 (research translating to communities). A medical librarian conducted a pragmatic literature search to facilitate this work, and committee members reviewed and supplemented the resulting evidence, identifying key knowledge gaps. Results: The committee identified several investigative opportunities to advance the care of patients with SAWS in each domain of the translational science spectrum. Major themes included 1) the need to investigate non-γ-aminobutyric acid pathways for alcohol withdrawal syndrome treatment; 2) harnessing retrospective and electronic health record data to identify risk factors and create objective severity scoring systems, particularly for acutely ill patients with SAWS; 3) the need for more robust comparative-effectiveness data to identify optimal SAWS treatment strategies; and 4) recommendations to accelerate implementation of effective treatments into practice. Conclusions: The dearth of evidence supporting management decisions for hospitalized patients with SAWS, many of whom require critical care, represents both a call to action and an opportunity for the American Thoracic Society and larger scientific communities to improve care for a vulnerable patient population. This report highlights basic, clinical, and implementation research that diverse experts agree will have the greatest impact on improving care for hospitalized patients with SAWS.

    View details for DOI 10.1164/rccm.202108-1845ST

    View details for Web of Science ID 000705466800002

    View details for PubMedID 34609257

    View details for PubMedCentralID PMC8528516

  • The Use of Physostigmine in the Diagnosis and Treatment of Anticholinergic Toxicity After Olanzapine Overdose: Literature Review and Case Report JOURNAL OF THE ACADEMY OF CONSULTATION-LIAISON PSYCHIATRY Serrano, W., Maldonado, J. 2021; 62 (4): 285-297
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
Postdoctoral Scholar, Biomedical Ethics

Publications

Clinical Professor, Genetics

Publications

  • Defining the Critical Components of Informed Consent for Genetic Testing. Journal of personalized medicine Ormond, K. E., Borensztein, M. J., Hallquist, M. L., Buchanan, A. H., Faucett, W. A., Peay, H. L., Smith, M. E., Tricou, E. P., Uhlmann, W. R., Wain, K. E., Coughlin, C. R., On Behalf Of The Clinical Genome CADRe Workgroup 1800; 11 (12)

    Abstract

    PURPOSE: Informed consent for genetic testing has historically been acquired during pretest genetic counseling, without specific guidance defining which core concepts are required.METHODS: The Clinical Genome Resource (ClinGen) Consent and Disclosure Recommendations Workgroup (CADRe) used an expert consensus process to identify the core concepts essential to consent for clinical genetic testing. A literature review identified 77 concepts that are included in informed consent for genetic tests. Twenty-five experts (9 medical geneticists, 8 genetic counselors, and 9 bioethicists) completed two rounds of surveys ranking concepts' importance to informed consent.RESULTS: The most highly ranked concepts included: (1) genetic testing is voluntary; (2) why is the test recommended and what does it test for?; (3) what results will be returned and to whom?; (4) are there other types of potential results, and what choices exist?; (5) how will the prognosis and management be impacted by results?; (6) what is the potential family impact?; (7) what are the test limitations and next steps?; and (8) potential risk of genetic discrimination and legal protections.CONCLUSION: Defining the core concepts necessary for informed consent for genetic testing provides a foundation for quality patient care across a variety of healthcare providers and clinical indications.

    View details for DOI 10.3390/jpm11121304

    View details for PubMedID 34945775

  • Application of a framework to guide genetic testing communication across clinical indications. Genome medicine Hallquist, M. L., Tricou, E. P., Ormond, K. E., Savatt, J. M., Coughlin, C. R., Faucett, W. A., Hercher, L., Levy, H. P., O'Daniel, J. M., Peay, H. L., Stosic, M., Smith, M., Uhlmann, W. R., Wand, H., Wain, K. E., Buchanan, A. H. 2021; 13 (1): 71

    Abstract

    BACKGROUND: Genetic information is increasingly relevant across healthcare. Traditional genetic counseling (GC) may limit access to genetic information and may be more information and support than some individuals need. We report on the application and clinical implications of a framework to consistently integrate genetics expertise where it is most useful to patients.METHODS: The Clinical Genome Resource's (ClinGen) Consent and Disclosure Recommendations (CADRe) workgroup designed rubrics to guide pre- and post-genetic test communication. Using a standard set of testing indications, pre- and post-test rubrics were applied to 40 genetic conditions or testing modalities with diverse features, including variability in levels of penetrance, clinical actionability, and evidence supporting a gene-disease relationship. Final communication recommendations were reached by group consensus.RESULTS: Communication recommendations were determined for 478 unique condition-indication or testing-indication pairs. For half of the conditions and indications (238/478), targeted discussions (moderate communication depth) were the recommended starting communication level for pre- and post-test conversations. Traditional GC was recommended pre-test for adult-onset neurodegenerative conditions for individuals with no personal history and post-test for most conditions when genetic testing revealed a molecular diagnosis as these situations are likely higher in complexity and uncertainty. A brief communication approach was recommended for more straightforward conditions and indications (e.g., familial hypercholesterolemia; familial variant testing).CONCLUSIONS: The CADRe recommendations provide guidance for clinicians in determining the depth of pre- and post-test communication, strategically aligning the anticipated needs of patients with the starting communication approach. Shorter targeted discussions or brief communications are suggested for many tests and indications. Longer traditional GC consultations would be reserved for patients with more complex and uncertain situations where detailed information, education, and psychological support can be most beneficial. Future studies of the CADRe communication framework will be essential for determining if CADRe-informed care supports quality patient experience while improving access to genetic information across healthcare.

    View details for DOI 10.1186/s13073-021-00887-x

    View details for PubMedID 33926532

  • Improving reporting standards for polygenic scores in risk prediction studies. Nature Wand, H., Lambert, S. A., Tamburro, C., Iacocca, M. A., O'Sullivan, J. W., Sillari, C., Kullo, I. J., Rowley, R., Dron, J. S., Brockman, D., Venner, E., McCarthy, M. I., Antoniou, A. C., Easton, D. F., Hegele, R. A., Khera, A. V., Chatterjee, N., Kooperberg, C., Edwards, K., Vlessis, K., Kinnear, K., Danesh, J. N., Parkinson, H., Ramos, E. M., Roberts, M. C., Ormond, K. E., Khoury, M. J., Janssens, A. C., Goddard, K. A., Kraft, P., MacArthur, J. A., Inouye, M., Wojcik, G. L. 2021; 591 (7849): 211–19

    Abstract

    Polygenic risk scores (PRSs), which often aggregate results from genome-wide association studies, can bridge the gap between initial discovery efforts and clinical applications for the estimation of disease risk using genetics. However, there is notable heterogeneity in the application and reporting of these risk scores, which hinders the translation of PRSs into clinical care. Here, in a collaboration between the Clinical Genome Resource (ClinGen) Complex Disease Working Group and the Polygenic Score (PGS) Catalog, we present the Polygenic Risk Score Reporting Standards (PRS-RS), in which we update the Genetic Risk Prediction Studies (GRIPS) Statement to reflect the present state of the field. Drawing on the input of experts in epidemiology, statistics, disease-specific applications, implementation and policy, this comprehensive reporting framework defines the minimal information that is needed to interpret and evaluate PRSs, especially with respect to downstream clinical applications. Items span detailed descriptions of study populations, statistical methods for the development and validation of PRSs and considerations for the potential limitations of these scores. In addition, we emphasize the need for data availability and transparency, and we encourage researchers to deposit and share PRSs through the PGS Catalog to facilitate reproducibility and comparative benchmarking. By providing these criteria in a structured format that builds on existing standards and ontologies, the use of this framework in publishing PRSs will facilitate translation into clinical care and progress towards defining best practice.

    View details for DOI 10.1038/s41586-021-03243-6

    View details for PubMedID 33692554

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 Scholar, Biomedical Ethics

Publications

  • A policy Delphi study to validate the key implications of data sharing (KIDS) framework for pediatric genomics in Canada. BMC medical ethics Rahimzadeh, V., Bartlett, G., Knoppers, B. M. 2021; 22 (1): 71

    Abstract

    BACKGROUND: The highly sensitive nature of genomic and associated clinical data, coupled with the consent-related vulnerabilities of children together accentuate ethical, legal and social issues (ELSI) concerning data sharing. The Key Implications of Data Sharing (KIDS) framework was therefore developed to address a need for institutional guidance on genomic data governance but has yet to be validated among data sharing practitioners in practice settings. This study qualitatively explored areas of consensus and dissensus of the KIDS Framework from the perspectives of Canadian clinician-scientists, genomic researchers, IRB members, and pediatric ethicists.METHODS: Twelve panelists participated in a three-round online policy Delphi to determine the desirability, feasibility, relative importance and confidence of twelve individual statements of the KIDS Framework. Mean and IQR were calculated from panelists' ratings to determine the strength of consensus and polarity. Qualitative content analysis of panelists' written responses was used to assess degree of support. Statements were validated when their combined ratings and qualitative rationales indicated high-moderate consensus (at least 70% agreement across two contiguous categories), low to no polarity (IQRat least1.0) and strong support.RESULTS: Nine original, and one new statement reached consensus. These statements outlined essential elements of the informed consent process, including a realistic evaluation of benefits and risks and assurance of future ethics oversight for secondary data use. Discrepant views on appropriate protections for anonymized and coded i.e. de-identified genomic data were primary sources of dissensus.CONCLUSIONS: The validated statements provide institutions with empirically supported best practices for sharing genomic and associated clinical data involving children from the perspectives of key stakeholders. Concerted efforts to quantify informational risks that can be conveyed to patients and families are further needed to align data sharing policy with stakeholder priorities.

    View details for DOI 10.1186/s12910-021-00635-1

    View details for PubMedID 34107925

  • Communication of Pharmacogenomic test results and treatment plans in pediatric oncology: deliberative stakeholder consultations with parents. BMC palliative care Longo, C., Rahimzadeh, V., Bartlett, G. 2021; 20 (1): 15

    Abstract

    BACKGROUND: Effective communication in support of clinical decision-making is central to the pediatric cancer care experience for families. A new laboratory derived pharmacogenetic test (LDT) that can diagnose difficult-to-treat brain cancers has been developed to stratify children based on their ability to respond to available treatment; however, the potential implementation of the LDT may make effective communication challenging since it can potentially remove the option for curative treatment in those children identified as non-responders, i.e. those with a catastrophic diagnosis.OBJECTIVE: We solicited the perspectives of parents of children with difficult-to-treat brain cancer on communication preferences surrounding the potential implementation of the LDT in standard care using deliberative stakeholder consultations.METHODS: Eight bereaved parents of children who succumbed to difficult-to-treat brain cancer, and four parents of children currently undergoing treatment for similar cancers attended separate small-group deliberative consultations - a stakeholder engagement method that enables the co-creation of recommendations following the consideration of competing arguments and diverse opinions of parents with different experiences. In the small-group consultations (Phase I), parents discussed four questions about potential communication issues that may arise with the LDT in practice. In Phase II, a total of five parents from both stakeholder groups (4 bereaved and 1 in current treatment) attended a consultation, known as the 'mixed' consultation, with the purpose of co-developing concrete recommendations for implementation of the LDT.RESULTS: Explaining the risks, benefits, and accuracy of the LDT were considered essential to parents. Once an LDT-based diagnosis/prognosis can be made, parents valued honesty, empathy, and clarity in communication. Parents also requested that all results and treatment options be presented to them in measured doses, and in an unbiased manner over the course of several meetings. This communication strategy allowed sufficient time to understand and accept the diagnosis/prognosis, particularly if it was catastrophic. Continuous access to the appropriate psychological and social support or counselling at and post-diagnosis was also strongly recommended.CONCLUSIONS: Deliberants co-created family-centered recommendations surrounding communication issues of the LDT, providing guidance to pediatric oncologists that could implement the test in practice.

    View details for DOI 10.1186/s12904-021-00709-2

    View details for PubMedID 33435936

  • 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

Adjunct Clinical Associate Professor, Pediatrics - Center for Biomedical Ethics
Professor of Anesthesiology, Perioperative and Pain Medicine

Publications

Associate Professor of Medicine (General Medical Disciplines) and, by courtesy, of Epidemiology and Population Health

Publications

  • Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases. Genetics in medicine : official journal of the American College of Medical Genetics Kobren, S. N., Baldridge, D., Velinder, M., Krier, J. B., LeBlanc, K., Esteves, C., Pusey, B. N., Zuchner, S., Blue, E., Lee, H., Huang, A., Bastarache, L., Bican, A., Cogan, J., Marwaha, S., Alkelai, A., Murdock, D. R., Liu, P., Wegner, D. J., Paul, A. J., Undiagnosed Diseases Network, Sunyaev, S. R., Kohane, I. S., Acosta, M. T., Adam, M., Adams, D. R., Agrawal, P. B., Alejandro, M. E., Alvey, J., Amendola, L., Andrews, A., Ashley, E. A., Azamian, M. S., Bacino, C. A., Bademci, G., Baker, E., Balasubramanyam, A., Baldridge, D., Bale, J., Bamshad, M., Barbouth, D., Bayrak-Toydemir, P., Beck, A., Beggs, A. H., Behrens, E., Bejerano, G., Bennett, J., Berg-Rood, B., Bernstein, J. A., Berry, G. T., Bican, A., Bivona, S., Blue, E., Bohnsack, J., Bonnenmann, C., Bonner, D., Botto, L., Boyd, B., Briere, L. C., Brokamp, E., Brown, G., Burke, E. A., Burrage, L. C., Butte, M. J., Byers, P., Byrd, W. E., Carey, J., Carrasquillo, O., Chang, T. C., Chanprasert, S., Chao, H., Clark, G. D., Coakley, T. R., Cobban, L. A., Cogan, J. D., Coggins, M., Cole, F. S., Colley, H. A., Cooper, C. M., Cope, H., Craigen, W. J., Crouse, A. B., Cunningham, M., D'Souza, P., Dai, H., Dasari, S., Davis, J., Daya, J. G., Deardorff, M., Dell'Angelica, E. C., Dhar, S. U., Dipple, K., Doherty, D., Dorrani, N., Doss, A. L., Douine, E. D., Draper, D. D., Duncan, L., Earl, D., Eckstein, D. J., Emrick, L. T., Eng, C. M., Esteves, C., Falk, M., Fernandez, L., Ferreira, C., Fieg, E. L., Findley, L. C., Fisher, P. G., Fogel, B. L., Forghani, I., Fresard, L., Gahl, W. A., Glass, I., Gochuico, B., Godfrey, R. A., Golden-Grant, K., Goldman, A. M., Goldrich, M. P., Goldstein, D. B., Grajewski, A., Groden, C. A., Gutierrez, I., Hahn, S., Hamid, R., Hanchard, N. A., Hassey, K., Hayes, N., High, F., Hing, A., Hisama, F. M., Holm, I. A., Hom, J., Horike-Pyne, M., Huang, A., Huang, Y., Huryn, L., Isasi, R., Jamal, F., Jarvik, G. P., Jarvik, J., Jayadev, S., Karaviti, L., Kennedy, J., Kiley, D., Kohane, I. S., Kohler, J. N., Korrick, S., Kozuira, M., Krakow, D., Krasnewich, D. M., Kravets, E., Krier, J. B., LaMoure, G. L., Lalani, S. R., Lam, B., Lam, C., Lanpher, B. C., Lanza, I. R., Latham, L., LeBlanc, K., Lee, B. H., Lee, H., Levitt, R., Lewis, R. A., Lincoln, S. A., Liu, P., Liu, X. Z., Longo, N., Loo, S. K., Loscalzo, J., Maas, R. L., MacDowall, J., MacRae, C. A., Macnamara, E. F., Maduro, V. V., Majcherska, M. M., Mak, B. C., Malicdan, M. C., Mamounas, L. A., Manolio, T. A., Mao, R., Maravilla, K., Markello, T. C., Marom, R., Marth, G., Martin, B. A., Martin, M. G., Martinez-Agosto, J. A., Marwaha, S., McCauley, J., McConkie-Rosell, A., McCormack, C. E., McCray, A. T., McGee, E., Mefford, H., Merritt, J. L., Might, M., Mirzaa, G., Morava, E., Moretti, P. M., Moretti, P., Mosbrook-Davis, D., Mulvihill, J. J., Murdock, D. R., Nagy, A., Nakano-Okuno, M., Nath, A., Nelson, S. F., Newman, J. H., Nicholas, S. K., Nickerson, D., Nieves-Rodriguez, S., Novacic, D., Oglesbee, D., Orengo, J. P., Pace, L., Pak, S., Pallais, J. C., Palmer, C. G., Papp, J. C., Parker, N. H., Phillips, J. A., Posey, J. E., Potocki, L., Power, B., Pusey, B. N., Quinlan, A., Raja, A. N., Rao, D. A., Raskind, W., Renteria, G., Reuter, C. M., Rives, L., Robertson, A. K., Rodan, L. H., Rosenfeld, J. A., Rosenwasser, N., Rossignol, F., Ruzhnikov, M., Sacco, R., Sampson, J. B., Samson, S. L., Saporta, M., Schaechter, J., Schedl, T., Schoch, K., Scott, C. R., Scott, D. A., Shashi, V., Shin, J., Signer, R. H., Silverman, E. K., Sinsheimer, J. S., Sisco, K., Smith, E. C., Smith, K. S., Solem, E., Solnica-Krezel, L., Ben Solomon, S., Spillmann, R. C., Stoler, J. M., Sullivan, J. A., Sullivan, K., Sun, A., Sutton, S., Sweetser, D. A., Sybert, V., Tabor, H. K., Tan, A. L., Tan, Q. K., Tekin, M., Telischi, F., Thorson, W., Thurm, A., Tifft, C. J., Toro, C., Tran, A. A., Tucker, B. M., Urv, T. K., Vanderver, A., Velinder, M., Viskochil, D., Vogel, T. P., Wahl, C. E., Walker, M., Wallace, S., Walley, N. M., Walsh, C. A., Wambach, J., Wan, J., Wang, L., Wangler, M. F., Ward, P. A., Wegner, D., Wener, M., Wenger, T., Perry, K. W., Westerfield, M., Wheeler, M. T., Whitlock, J., Wolfe, L. A., Woods, J. D., Yamamoto, S., Yang, J., Yousef, M., Zastrow, D. B., Zein, W., Zhao, C., Zuchner, S. 2021

    Abstract

    PURPOSE: Genomic sequencing has become an increasingly powerful and relevant tool to be leveraged for the discovery of genetic aberrations underlying rare, Mendelian conditions. Although the computational tools incorporated into diagnostic workflows for this task are continually evolving and improving, we nevertheless sought to investigate commonalities across sequencing processing workflows to reveal consensus and standard practice tools and highlight exploratory analyses where technical and theoretical method improvements would be most impactful.METHODS: We collected details regarding the computational approaches used by a genetic testing laboratory and 11 clinical research sites in the United States participating in the Undiagnosed Diseases Network via meetings with bioinformaticians, online survey forms, and analyses of internal protocols.RESULTS: We found that tools for processing genomic sequencing data can be grouped into four distinct categories. Whereas well-established practices exist for initial variant calling and quality control steps, there is substantial divergence across sites in later stages for variant prioritization and multimodal data integration, demonstrating a diversity of approaches for solving the most mysterious undiagnosed cases.CONCLUSION: The largest differences across diagnostic workflows suggest that advances in structural variant detection, noncoding variant interpretation, and integration of additional biomedical data may be especially promising for solving chronically undiagnosed cases.

    View details for DOI 10.1038/s41436-020-01084-8

    View details for PubMedID 33580225

  • "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. n., Maturi, J. n., 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

Postdoctoral Scholar, Biomedical Ethics

Publications

  • Perceived utility and disutility of genomic sequencing for pediatric patients: Perspectives from parents with diverse sociodemographic characteristics. American journal of medical genetics. Part A Halley, M. C., Young, J. L., Fernandez, L., Kohler, J. N., Undiagnosed Diseases Network, Bernstein, J. A., Wheeler, M. T., Tabor, H. K. 1800

    Abstract

    Given the limited therapeutic options for most rare diseases diagnosed through genomic sequencing (GS) and the proportion of patients who remain undiagnosed even after GS, it is important to characterize a broader range of benefits and potential harms of GS from the perspectives of families with diverse sociodemographic characteristics. We recruited parents of children enrolled in the Undiagnosed Diseases Network. Parents completed an in-depth interview, and we conducted a comparative content analysis of the data. Parents (n=30) were demographically diverse, with 43.3% identifying as Hispanic, 33.3% primarily Spanish-speaking, and widely variable household income and education. Parents reported minimal changes in their child's health status following GS but did report a range of other forms of perceived utility, including improvements in their child's healthcare management and access, in their own psychological well-being, and in disease-specific social connections and research opportunities. Parents who received a diagnosis more frequently perceived utility across all domains; however, disutility also was reported by both those with and without a diagnosis. Impacts depended on multiple mediating factors, including parents' underlying expectations and beliefs, family sociodemographic characteristics, individual disease characteristics, and prior healthcare access. Our study suggests that the perceived utility of GS varies widely among parents and may depend on multiple individual, sociodemographic, and contextual factors that are relevant for pre- and post-GS counseling, for value assessment of GS, and for policymaking related to access to new genomic technologies.

    View details for DOI 10.1002/ajmg.a.62619

    View details for PubMedID 34981646

  • Family Identity and Roles in the Context of Li-Fraumeni Syndrome: "No One's Like Us Mutants" HEALTH & SOCIAL WORK Wilsnack, C., Young, J. L., Merrill, S. L., Groner, V., Loud, J. T., Bremer, R. C., Greene, M. H., Khincha, P. P., Werner-Lin, A. 2021; 46 (4): 299-307

    Abstract

    Li-Fraumeni syndrome (LFS) is a rare hereditary cancer syndrome in which individuals have a significantly increased risk of developing multiple cancers throughout the life span. An LFS diagnosis may shift the individual's sense of self and tolerance of cancer risk as they engage in cancer screening and cancer prevention activities. This study examined the impact of family identity on health decision making, communication, and role function. Forty-five families completed one or more interviews during an annual, protocol-specific cancer screening study. An interdisciplinary team analyzed 66 interviews using interpretive description and modified grounding theory. Thematically, identity emerged as an evolving construct regarding self and/or family, embedded in historical and ongoing experiences with LFS. Notions of individual and shared family identities guided decision making related to healthcare and influenced interpersonal communication and role function between supportive networks and families. Alignment between individual, family, and generational identities may shape engagement in genetic testing, risk management, and family life. Medical teams that are unequipped to address the psychosocial challenges that LFS populations face may include mental health professionals on interprofessional care teams to navigate risk management and consequential familial conflict.

    View details for DOI 10.1093/hsw/hlab032

    View details for Web of Science ID 000728173400008

    View details for PubMedID 34618014

  • Asian Americans' Emerging Racial Identities and Reactions to Racial Tension in the United States EMERGING ADULTHOOD Young, J. L., Li, G., Golojuch, L., Kim, H. 2021