Advancing genomics to improve health equity.

Health equity is the state in which everyone has fair and just opportunities to attain their highest level of health. The field of human genomics has fallen short in increasing health equity, largely because the diversity of the human population has been inadequately reflected among participants of genomics research. This lack of diversity leads to disparities that can have scientific and clinical consequences. Achieving health equity related to genomics will require greater effort in addressing inequities within the field. As part of the commitment of the National Human Genome Research Institute (NHGRI) to advancing health equity, it convened experts in genomics and health equity research to make recommendations and performed a review of current literature to identify the landscape of gaps and opportunities at the interface between human genomics and health equity research. This Perspective describes these findings and examines health equity within the context of human genomics and genomic medicine.

Corrigendum: Landscape of pediatric cancer treatment refusal and abandonment in the US: a qualitative study.

[This corrects the article DOI: 10.3389/fped.2022.1049661.].

Content and Readability of US Procedure Consent Forms.

This qualitative study uses data from the American Hospital Association National Survey Database to analyze the content and readability of a sample of US procedures consent forms.

Patient Perspectives on Selecting an Academic Aesthetic Surgeon: A Qualitative Analysis.

BACKGROUND: Growth of the aesthetic surgery marketplace has increased patient choice in provider selection. This study aimed to characterize how patients choose an aesthetic surgeon, identify knowledge gaps in this decision-making process, and understand why patients select academic aesthetic surgeons. METHODS: A qualitative interview study of aesthetic surgery patients from an academic center was conducted. Purposive sampling maximized representation regarding surgeon, surgery type, and patient demographics. An interview guide was developed in collaboration with content and methodology experts, then refined through pilot testing. Emergent themes were identified using a codebook constructed by grounded theory. RESULTS: Thematic saturation was achieved with 24 patients. When selecting a surgeon, participants valued bedside manner (24 of 24) and past patients' satisfaction (18 of 24). Most participants (16 of 24) ascribed low importance to board certification. Reasons given for choosing an academic practice included the institution's reputation (13 of 24) and the availability of medical records and other specialties if complications arise (8 of 24). Participants demonstrated knowledge gaps regarding medical training and licensure. No participant (0 of 24) was aware that any licensed physician can offer aesthetic surgery, and nearly all participants (23 of 24) expressed discomfort with this. CONCLUSIONS: Patients prioritize subjective elements when selecting an aesthetic surgeon, relying less on objective and meaningful qualifications like board certification and training background. Academic aesthetic practice is valued because of reputation and ability to function as a medical home. Given the lack of public understanding regarding physician training, initiatives promoting transparency are needed to ensure that patients can make safe, informed decisions.

Integrating participants as partners in research governance and operations: an approach from the All of Us Research Program Engagement Core.

OBJECTIVES: During the last two decades, researchers and funders increasingly recognised the value of engaging patients and communities in research. Despite progress, community engagement remains challenging. There are few examples of successful participant engagement in governance of large-scale research programmes. Here we describe efforts to engage participants as partners in new governance roles in the All of Us Research Program, a precision medicine research initiative which intends to enrol at least one million participants. Using intentional, participant-centric engagement strategies, the All of Us Engagement Core recruited and integrated a diverse group of participants into governance roles including Steering and Executive Committees. Evaluation measures included a survey to assess Consortium Members' readiness for participant engagement. RESULTS: Over a 3-year period, all items on the survey increased (higher readiness). Of the 291 respondents to the 2021 survey, respondents most frequently agreed that participant perspectives are essential (100%), participants understand enough to contribute meaningfully (94%) and participants should be involved in setting goals (96%). Respondents least frequently agreed that participants should have an equal voice in Working Groups (75%), Steering Committee (69%) and Executive Committee (63%). CONCLUSION: In conclusion, participants can be effectively integrated into large-scale research governance, which is associated with increased researcher readiness for engagement.

Perioperative Experiences of Transgender Adults Seeking Gender-Affirming Surgery: A Qualitative Interview Study.

Purpose: Transgender individuals have been systemically excluded from U.S. health care, creating barriers and disparities that other populations do not face. Gender-affirming surgery represents an emerging treatment modality for gender dysphoria, however, little is known about how transgender patients experience the perioperative pathway. This study sought to characterize the experiences of transgender patients seeking gender-affirming surgery and identify opportunities for improvement. Methods: A qualitative study was conducted at an academic medical center between July and December 2020. Semistructured interviews were conducted after a postoperative encounter with adult patients who had undergone gender-affirming surgery within the past year. A purposive sampling strategy was used to maximize representation across surgery types and surgeons. Recruitment continued until thematic saturation was reached. Results: All invited patients agreed to participate, yielding 36 interviews (response rate=100%). Four major themes emerged. First, gender-affirming surgery was described as a major life event, often reflecting years of personal decision making and research. Second, participants stressed the importance of surgeon investment, surgeon experience caring for transgender patients, and individualized care in developing a strong relationship with their care team. Third, self-advocacy was necessary to navigate the perioperative pathway and overcome barriers. Last, participants discussed a lack of equity and provider awareness regarding transgender health issues, including correct pronoun usage, terminology, and insurance coverage. Conclusion: Patients undergoing gender-affirming surgery encounter unique perioperative barriers to care, which would benefit from targeted interventions in the health care system. To improve the pathway, our findings support the creation of multidisciplinary gender-affirmation clinics, greater emphasis on transgender care in medical education, and insurance policy reforms aimed at promoting consistent and equitable coverage.

Overlapping Surgeries From the Patient's Perspective.

INTRODUCTION: Overlapping surgery (OS) occurs when a single surgeon is concurrently caring for patients in multiple operating rooms (OR) but is present for all critical portions of each surgery. Although this is common practice, most studies have found public disapproval of OS. This study aims to better understand attitudes toward OS of patients who gave informed consent for OS. METHODS: Participant interviews covered topics including trust, OR personnel roles, and attitudes toward OS. Four representative transcripts were distributed among researchers for independent code identification. These were aggregated into a codebook, applied by two coders. Iterative and emergent thematic analyses were done. RESULTS: Twelve participants were interviewed to reach thematic saturation. Three themes shaped how participants felt about OS: trust in their surgeon, worries about OS, and understanding of OR personnel roles. Factors contributing to trust included personal research and the surgeon's experience. Frequently cited concerns were unpredictability of complications during operations and the surgeon's divided attention. Two participants inaccurately understood personnel roles, believing the surgeon did most or all the hands-on work while trainees were observers. Most participants felt a high or neutral level of comfort toward OS and indicated trust as the reason. CONCLUSIONS: In contrast to prior research, this study found that most participants had a neutral or positive view of OS. This suggests that a trusting relationship with their surgeon and informed consent are important factors in increasing comfort for OS. Participants who misunderstood OR roles felt less comfortable toward OS. This highlights an opportunity for patient education on trainee roles.

Mapping parents' journey following prenatal diagnosis of CHD: a qualitative study.

OBJECTIVE: To better understand parents' accounts of their prenatal and postnatal experience after prenatal diagnosis of CHD - particularly emotional processing and coping mechanisms - to identify strategies to improve support. METHODS: This single-centre, longitudinal qualitative study included pregnant mothers and their support persons seen in Fetal Cardiology Clinic at Vanderbilt Children's Hospital from May through August 2019 for probable complex CHD. Twenty-seven individuals from 17 families participated in 62 phone interviews during pregnancy and postpartum: 27 conducted after the initial prenatal cardiology consultation, 15 after a follow-up prenatal visit, and 20 after birth. Applied thematic analysis approach was used to code and analyse transcribed interviews. Coding and codebook revisions occurred iteratively; intercoder reliability was >80%. RESULTS: Patients included mothers (16 [59%]), fathers (8 [30%]), and other support persons (3 [11%]). Initial fetal diagnoses included a range of moderate to severe CHD. Prenatally, parents sought to maintain hope while understanding the diagnosis; planning for the future rather than focusing on day-to-day was more common if prognoses were better. Postnatally, with confirmation of prenatal diagnoses, parents' sense of control expanded, and they desired more active engagement in clinical decision making. CONCLUSIONS: To enhance effective communication and support, understanding how parents conceptualise hope in relation to diagnosis and how that may evolve over time is critical. Expectant parents whose child has a significant risk of mortality may demonstrate hope by focusing on positivity. As prognostic uncertainty diminishes postpartum, the parental role on the team may shift, requiring clinicians to provide different support.

Addressing choice of law challenges in multi-state precision medicine research: experts' assessment of key factors.

Precision medicine research implicates numerous state laws that may affect participants' rights and protections and are not preempted by federal law. The choice of which state's laws apply, and under what circumstances, can have significant impact on research design and oversight. But neither of the traditional approaches to choice of law issues-contractual agreement or determination by a court after a dispute arises-fit the research context well. We hosted a series of workshops with choice of law experts and research law and ethics experts to identify factors that are most crucial to account for in a future choice of law precision medicine research framework. Our workshops focused on precision medicine 'places' and choice of law factors; there was consensus that 'place where the harm occurred' was relevant and best represented by where the participant resides and/or where the research/institution is located. Our experts identified factors that need to be accounted for in a future choice of law framework. They also identified potential approaches, including a federal law or model state law as ways of achieving more uniformity of protections and a comprehensive database of laws, which merit further consideration to provide IRBs and researchers the guidance they require.

LGBTQ+ Perspectives on Conducting Genomic Research on Sexual Orientation and Gender Identity.

We conducted in-depth, semi-structured interviews with LGBTQ+-identified individuals (n = 31) to explore the range of LGBTQ+ perspectives on genomic research using either sexual orientation or gender identity (SOGI) data. Most interviewees presumed that research would confirm genetic contributions to sexual orientation and gender identity. Primary hopes for such confirmation included validating LGBTQ+ identities, improved access to and quality of healthcare and other resources, and increased acceptance in familial, socio-cultural, and political environments. Areas of concern included threats of pathologizing and medicalizing LGBTQ+ identities and experiences, undermining reproductive rights, gatekeeping of health or social systems, and malicious testing or misuse of genetic results, particularly for LGBTQ+ youth. Overall, interviewees were divided on the acceptability of genomic research investigating genetic contributions to sexual orientation and gender identity. Participants emphasized researchers' ethical obligations to LGBTQ+ individuals and endorsed engagement with LGBTQ+ communities throughout all aspects of genomic research using SOGI data.

Patient Perceptions of Resident Involvement in Surgery: A Qualitative Study Using Surgical Video.

OBJECTIVE: To improve patient-centered perioperative informed consent, this study used real surgical footage to identify key topics which might be discussed with patients regarding resident involvement in surgery. DESIGN: We conducted semi-structured qualitative interviews with 27 participants. The interviews included a video showing an attending and resident performing a procedure together. Questions focused on comfort with resident involvement and preferences regarding preoperative informed consent. Participants also described residents' participation in their own words. SETTING: Participants were recruited from the infusion room of the allergy clinic and the treatment room of the dialysis clinic at a tertiary care facility in Nashville, TN (Vanderbilt University Medical Center). PARTICIPANTS: Adult medical patients were recruited via periodic verbal announcements by the interviewer in the waiting rooms. Purposive sampling was used to increase demographic diversity. Participants with training in the clinical health professions (i.e., physicians, nurses, and medical assistants) were excluded. RESULTS: Before watching the video, roughly half of participants imagined the resident to have a passive, bystander role, while the remaining imagined a more active role. Despite these differences, most participants found the video of attending-resident teamwork to be a reassuring depiction of resident involvement. When asked the best way to describe resident participation depicted in the video to patients, participants emphasized the need to focus on attending supervision, teamwork, reassurance, as well as resident presence, specific activities, and experience. CONCLUSION: Although patients have varying perceptions regarding the role of trainees in surgery, most participants were comfortable with teamwork between an attending and resident, as depicted in the video. Our participants provided multiple practical ways to transparently articulate resident involvement for testing in future research.

Perspectives on choice of law challenges in multistate precision medicine research.

Federal law establishes minimum standards for protecting human research participants, but many states have enacted laws that may apply to research. Precision medicine research in particular implicates state laws that govern an array of topics, including human subjects research, genetic testing, and both general and genetic privacy and discrimination. Thus, the determination of which state's laws apply, and under what circumstances, can substantially alter participant rights and protections. To shed light on this topic, we conducted interviews with experts in law, human research protections, and precision medicine research. Our goal was to better understand their experiences with choice of law issues, the effects of state law variation on research practices and stakeholder groups, and approaches to addressing such variation. Interviewees were aware of state-based variation in laws that could be applied to research. However, the extent to which they perceived such variability as problematic differed, as did their perceptions of stakeholder roles and responsibilities for addressing state law variation, and their estimations of requisite knowledge among IRBs and researchers. These divergent perspectives create an ethical and legal quandary, and further empirical and normative work is needed to fully characterize the implications of substantive differences in participant rights and protections.

The choices we make: Ethical challenges in trauma surgery.

BACKGROUND: Ethical issues in trauma surgery are commonplace but scarcely studied. We aim to characterize the ethical dilemmas trauma surgeons encounter in clinical practice and describe perceptions about the ability to manage these dilemmas and strategies they use to address them. METHODS: Members of a U.S. trauma society were electronically surveyed on handling ethically challenging scenarios. The survey instrument was developed using published ethics literature and iterative cognitive interviews. Domains included perceived frequency of encountering and self-efficacy of managing ethical situations in trauma surgery. Common situations were defined as those encountered monthly or weekly. Ethical problems were categorized within 7 larger categories: general ethics, autonomy, communication, justice, end-of-life, conflict, and other. Descriptive analyses were performed; group comparisons were analyzed using analysis of variance. RESULTS: Of 1,748 surveyed, 548 responded (30.6%) and 154 (28%) were female. Most were White, under 55 years age, had completed fellowship training, and were practicing at a level I or II trauma center. The most encountered ethical categories were generic ethics and communication (79%). Issues involving conflict were least frequent (21%). Respondents felt most uncomfortable with autonomy topics. Respondents with high self-efficacy in handling ethical situations were older, in practice ≥15 years, served on an ethics committee, and/or frequently experienced ethical challenges. CONCLUSION: Most trauma surgeons regularly encounter ethical challenges, especially those related to communication. Trauma surgeons encounter ethical issues involving conflict least often, and lowest self-efficacy scores with issues involving autonomy. Experienced trauma surgeons reported higher self-efficacy scores in managing ethical issues. Future work should examine how self-efficacy translates to observed behavior, and how trauma surgeons build and enhance their ethical skillsets in the care of the injured patient.

Working Definitions of "Critical Portions": Results from Qualitative Interviews with 51 Academic Surgeons.

OBJECTIVE: Identify the considerations academic surgeons use when determining which portions of a procedure are "critical" and necessitate their presence. BACKGROUND: Teaching physicians are required to be present for the "critical portion" of surgical procedures, but the definition of what constitutes a critical portion remains elusive. Current guidelines defer to surgeons' expert judgment in identifying critical portion(s) of a procedure; little is known about what concepts surgeons apply when deciding what parts of a procedure are critical. METHODS: Qualitative analysis of interviews with 51 practicing surgeons from a range of specialties regarding their working definition of critical portions. RESULTS: Surgeons identified 4 common themes that they use in practice to define the critical portions of procedures: portions that require their first-hand observation of events, those involving challenging anatomy or structures that cannot be repaired if injured, and portions where an error would result in severe consequences for the patient. Surgeons also recognized contextual factors regarding the patient, trainee, surgeon, and team that might alter determinations for individual cases. CONCLUSIONS: Although critical portion definitions are largely treated as subjective, surgeons across multiple specialties identified consistent themes defining "critical portions'', suggesting that setting a minimum standard for criticality is feasible for specific procedures. Surgeons also recognized contextual factors that support the need for case-specific judgement beyond minimum standard. This framework of procedure features and contextual factors may be used as a guide for surgeons making day-to-day decisions and in future work to formally define critical portions for a given procedure.

Landscape of pediatric cancer treatment refusal and abandonment in the US: A qualitative study.

Objective: To describe United States (US) pediatric oncologists' experiences with treatment refusal or abandonment, exploring types and frequency of decision-making conflicts, and their impact. Study design: We conducted exploratory qualitative interviews of pediatric oncologists (n = 30) with experience caring for a pediatric patient who refused or abandoned curative treatment. Interviewees were recruited using convenience and nominated expert sampling, soliciting experiences from diverse geographic locations and institution sizes across the US. We analyzed transcripts using applied thematic analysis to identify and refine meaningful domains. Results: Many oncologists reported multiple experiences with refusal and abandonment. Most anticipated case frequency would increase due to misinformation, particularly on the internet. Interviewees described cases of treatment refusal and abandonment, but also a wider variety of cases than previously described in existing publications, including cases involving: non-adherence; negotiations for different treatments; negotiations for complementary and alternative medicine; delayed treatment initiation; and refusal of a component of recommended therapy. Cases often involved multiple stages or types of conflicts. Recurring patient/family behaviors emerged: clear opposition to treatment from the outset; hesitancy about treatment despite initiating therapy; and psychosocial circumstances becoming an obstacle to treatment completion. Oncologists revealed substantial professional and personal repercussions of these cases. Conclusion: Oncologist interviews highlight a broad range of conflicts, yielding a taxonomy of treatment refusal, non-adherence and abandonment (TRNA) that accounts for the heterogeneity of situations described. Cases' complexity and interrelatedness points to a functional model of TRNA that includes families' behaviors. This preliminary taxonomy and model warrant further research and examination to refine the model and generate strategies to prevent and mitigate TRNA.

Direct-to-consumer genetic testing: Prospective users' attitudes toward information about ancestry and biological relationships.

Direct-to-consumer genetic testing is marketed as a tool to uncover ancestry and kin. Recent studies of actual and potential users have demonstrated that individuals' responses to the use of these tests for these purposes are complex, with privacy, disruptive consequences, potential for misuse, and secondary use by law enforcement cited as potential concerns. We conducted six focus groups with a diverse sample of participants (n = 62) who were aware of but had not used direct-to-consumer genetic tests, in an effort to understand more about what people considering these tests think about the potential value, risks, and benefits of such testing, taking into account use by third parties, such as potential kin and law enforcement. Participants differed widely in the perceived value of direct-to-consumer genetic tests for ancestry and kinship information for their own lives, including the desirability of contact with previously unknown relatives. Some perceived ancestry testing as mere curiosity or entertainment, while others, particularly those who had gaps in their family history, few living relatives, or who were adopted, saw greater value. Concerns about intrusion into one's life by purported kin and control of data were widespread, with many participants expressing concern about secondary uses of data that could harm users or their families. The use of direct-to-consumer genetic tests data for forensic genealogy elicited a particularly wide array of reactions, both spontaneously and in response to specific discussion prompts, mirroring the current public debate about law enforcement access to such data. The themes uncovered through our investigation warrant specific attention in the continued development of the science, policy, and practice of commercial direct-to-consumer genetic testing.

A Survey of Overlapping Surgery Policies at U.S. Hospitals.

The authors surveyed hospitals across the country on their policies regarding overlapping surgery, and found large variation between hospitals in how this practice is regulated. Specifically, institutions chose to define "critical portions" in a variety of ways, ultimately affecting not only surgical efficiency but also the autonomy of surgical trainees and patient experiences at these different hospitals.

Thought Leader Comparisons of Risks in Precision Medicine Research.

Biomedical research is increasingly capitalizing on an array of data to illuminate the interplay between "omics," lifestyle, and health. Leveraging this information presents opportunities to advance knowledge but also poses risks to research participants. In interviews with thought leaders, we asked which data type associated with a hypothetical precision medicine research endeavor was riskiest: 42% chose ongoing access to electronic health records, 17% chose genomic analyses of biospecimens, and 15% chose streaming data from mobile devices. Other responses included "It depends" (15%), the three types are equally risky (8%), and the combination of data types together is riskiest (3%). When asked to consider the hypothetical study overall, 60% rated the likelihood of the risks materializing as low, but 20% rated the potential consequences as severe. These results have implications for study design and informed consent, including placing appropriate emphasis on the risks and protections for the full range of data.