Jennifer Blumenthal-Barby

Ethics and Genomic Incidental Findings

Laboratories have an obligation to report clinically beneficial incidental findings. The American College of Medical Genetics and Genomics (ACMG) recently issued a statement (1) recommending that all laboratories conducting clinical sequencing seek and report pathogenic and expected pathogenic mutations for a short list of carefully chosen genes and conditions. The recommendations establish a baseline for reporting clinically relevant incidental findings and articulate ethical principles relevant to their disclosure. The ACMG acknowledged that the list will evolve over time and is developing a mechanism for community input (2). This paper focuses on the ethical framework for the recommendations, rather than on the choice of which genes to include on the list.

Seeking Better Health Care Outcomes: The Ethics of Using the “Nudge”

Policymakers, employers, insurance companies, researchers, and health care providers have developed an increasing interest in using principles from behavioral economics and psychology to persuade people to change their health-related behaviors, lifestyles, and habits. In this article, we examine how principles from behavioral economics and psychology are being used to nudge people (the public, patients, or health care providers) toward particular decisions or behaviors related to health or health care, and we identify the ethically relevant dimensions that should be considered for the utilization of each principle.

The MedSeq Project: a randomized trial of integrating whole genome sequencing into clinical medicine

BackgroundWhole genome sequencing (WGS) is already being used in certain clinical and research settings, but its impact on patient well-being, health-care utilization, and clinical decision-making remains largely unstudied. It is also unknown how best to communicate sequencing results to physicians and patients to improve health. We describe the design of the MedSeq Project: the first randomized trials of WGS in clinical care.Methods/DesignThis pair of randomized controlled trials compares WGS to standard of care in two clinical contexts: (a) disease-specific genomic medicine in a cardiomyopathy clinic and (b) general genomic medicine in primary care. We are recruiting 8 to 12 cardiologists, 8 to 12 primary care physicians, and approximately 200 of their patients. Patient participants in both the cardiology and primary care trials are randomly assigned to receive a family history assessment with or without WGS. Our laboratory delivers a genome report to physician participants that balances the needs to enhance understandability of genomic information and to convey its complexity. We provide an educational curriculum for physician participants and offer them a hotline to genetics professionals for guidance in interpreting and managing their patients’ genome reports. Using varied data sources, including surveys, semi-structured interviews, and review of clinical data, we measure the attitudes, behaviors and outcomes of physician and patient participants at multiple time points before and after the disclosure of these results.DiscussionThe impact of emerging sequencing technologies on patient care is unclear. We have designed a process of interpreting WGS results and delivering them to physicians in a way that anticipates how we envision genomic medicine will evolve in the near future. That is, our WGS report provides clinically relevant information while communicating the complexity and uncertainty of WGS results to physicians and, through physicians, to their patients. This project will not only illuminate the impact of integrating genomic medicine into the clinical care of patients but also inform the design of future studies.Trial registrationClinicalTrials.gov identifierNCT01736566

Cognitive Biases and Heuristics in Medical Decision Making: A Critical Review Using a Systematic Search Strategy

Background. The role of cognitive biases and heuristics in medical decision making is of growing interest. The purpose of this study was to determine whether studies on cognitive biases and heuristics in medical decision making are based on actual or hypothetical decisions and are conducted with populations that are representative of those who typically make the medical decision; to categorize the types of cognitive biases and heuristics found and whether they are found in patients or in medical personnel; and to critically review the studies based on standard methodological quality criteria. Method. Data sources were original, peer-reviewed, empirical studies on cognitive biases and heuristics in medical decision making found in Ovid Medline, PsycINFO, and the CINAHL databases published in 1980–2013. Predefined exclusion criteria were used to identify 213 studies. During data extraction, information was collected on type of bias or heuristic studied, respondent population, decision type, study type (actual or hypothetical), study method, and study conclusion. Results. Of the 213 studies analyzed, 164 (77%) were based on hypothetical vignettes, and 175 (82%) were conducted with representative populations. Nineteen types of cognitive biases and heuristics were found. Only 34% of studies (n = 73) investigated medical personnel, and 68% (n = 145) confirmed the presence of a bias or heuristic. Each methodological quality criterion was satisfied by more than 50% of the studies, except for sample size and validated instruments/questions. Limitations are that existing terms were used to inform search terms, and study inclusion criteria focused strictly on decision making. Conclusions. Most of the studies on biases and heuristics in medical decision making are based on hypothetical vignettes, raising concerns about applicability of these findings to actual decision making. Biases and heuristics have been underinvestigated in medical personnel compared with patients.

Balancing the presentation of information and options in patient decision aids: an updated review

BackgroundStandards for patient decision aids require that information and options be presented in a balanced manner; this requirement is based on the argument that balanced presentation is essential to foster informed decision making. If information is presented in an incomplete/non-neutral manner, it can stimulate cognitive biases that can unduly affect individuals’ knowledge, perceptions of risks and benefits, and, ultimately, preferences. However, there is little clarity about what constitutes balance, and how it can be determined and enhanced. We conducted a literature review to examine the theoretical and empirical evidence related to balancing the presentation of information and options.MethodsA literature search related to patient decision aids and balance was conducted on Medline, using MeSH terms and PubMed; this search supplemented the 2011 Cochrane Collaboration’s review of patient decision aids trials. Only English language articles relevant to patient decision making and addressing the balance of information and options were included. All members of the team independently screened clusters of articles; uncertainties were resolved by seeking review by another member. The team then worked in sub-groups to extract and synthesise data on theory, definitions, and evidence reported in these studies.ResultsA total of 40 articles met the inclusion criteria. Of these, six explained the rationale for balancing the presentation of information and options. Twelve defined “balance”; the definition of “balance” that emerged is as follows: “The complete and unbiased presentation of the relevant options and the information about those options—in content and in format—in a way that enables individuals to process this information without bias”. Ten of the 40 articles reported assessing the balance of the relevant decision aid. All 10 did so exclusively from the users’ or patients’ perspective, using a five-point Likert-type scale. Presenting information in a side-by-side display form was associated with more respondents (ranging from 70% to 96%) judging the information as “balanced”.ConclusionThere is a need for comparative studies investigating different ways to improve and measure balance in the presentation of information and options in patient decision aids.

Are physicians prepared for whole genome sequencing? a qualitative analysis.

Although the integration of whole genome sequencing (WGS) into standard medical practice is rapidly becoming feasible, physicians may be unprepared to use it. Primary care physicians (PCPs) and cardiologists enrolled in a randomized clinical trial of WGS received genomics education before completing semi‐structured interviews. Themes about preparedness were identified in transcripts through team‐based consensus‐coding. Data from 11 PCPs and 9 cardiologists suggested that physicians enrolled in the trial primarily to prepare themselves for widespread use of WGS in the future. PCPs were concerned about their general genomic knowledge, while cardiologists were concerned about how to interpret specific types of results and secondary findings. Both cohorts anticipated preparing extensively before disclosing results to patients by using educational resources with which they were already familiar, and both cohorts anticipated making referrals to genetics specialists as needed. A lack of laboratory guidance, time pressures, and a lack of standards contributed to feeling unprepared. Physicians had specialty‐specific concerns about their preparedness to use WGS. Findings identify specific policy changes that could help physicians feel more prepared, and highlight how providers of all types will need to become familiar with interpreting WGS results.

Biases and Heuristics in Decision Making and Their Impact on Autonomy

Cognitive scientists have identified a wide range of biases and heuristics in human decision making over the past few decades. Only recently have bioethicists begun to think seriously about the implications of these findings for topics such as agency, autonomy, and consent. This article aims to provide an overview of biases and heuristics that have been identified and a framework in which to think comprehensively about the impact of them on the exercise of autonomous decision making. I analyze the impact that these biases and heuristics have on the following dimensions of autonomy: understanding, intentionality, absence of alienating or controlling influence, and match between formally autonomous preferences or decisions and actual choices or actions.

Ventricular assist devices: a review of psychosocial risk factors and their impact on outcomes.

BACKGROUND Psychosocial contraindications for ventricular assist devices (VADs) remain particularly nebulous and are driven by institution-specific practices. Our multi-institutional, multidisciplinary workgroup conducted a review with the goal of addressing the following research question: How are preoperative psychosocial domains predictive of or associated with postoperative VAD-related outcomes? Answers to this question could contribute to the development of treatment-specific (contra) indications for patients under consideration for mechanical devices. METHODS AND RESULTS We identified 5 studies that examined psychosocial factors and their relationship to postoperative VAD-related outcomes. Our results suggest that 3 psychosocial variables are possibly associated with VAD-related outcomes: depression, functional status, and self-care. Of the few studies that exist, the generalizability of findings is constrained by a lack of methodologic rigor, inconsistent terminology, and a lack of conceptual clarity. CONCLUSIONS This review should serve as a call for research. Efforts to minimize psychosocial risk before device placement can only be successful insofar as VAD programs can clearly identify who is at risk for suboptimal outcomes.

In Defense of “Denial”: Difficulty Knowing When Beliefs Are Unrealistic and Whether Unrealistic Beliefs Are Bad

Bioethicists often draw sharp distinctions between hope and states like denial, self-deception, and unrealistic optimism. But what, exactly, is the difference between hope and its more suspect cousins? One common way of drawing the distinction focuses on accuracy of belief about the desired outcome: Hope, though perhaps sometimes misplaced, does not involve inaccuracy in the way that these other states do. Because inaccurate beliefs are thought to compromise informed decision making, bioethicists have considered these states to be ones where intervention is needed either to correct the person’s mental state or to persuade the person to behave differently, or even to deny the person certain options (e.g., another round of chemotherapy). In this article, we argue that it is difficult to determine whether a patient is really in denial, self-deceived, or unrealistically optimistic. Moreover, even when we are confident that beliefs are unrealistic, they are not always as harmful as critics contend. As a result, we need to be more permissive in our approach to patients who we believe are unrealistically optimistic, in denial, or self-deceived—that is, unless patients significantly misunderstand their situation and thus make decisions that are clearly bad for them (especially in light of their own values and goals), we should not intervene by trying to change their mental states or persuade them to behave differently, or by paternalistically denying them certain options (e.g., a risky procedure).

How behavioral economics can help to avoid 'The last mile problem' in whole genome sequencing

Editorial summaryFailure to consider lessons from behavioral economics in the case of whole genome sequencing may cause us to run into the ‘last mile problem’ - the failure to integrate newly developed technology, on which billions of dollars have been invested, into society in a way that improves human behavior and decision-making.