Studying the impact of translational genomic research: Lessons from eMERGE.

Two major goals of the Electronic Medical Record and Genomics (eMERGE) Network are to learn how best to return research results to patient/participants and the clinicians who care for them and also to assess the impact of placing these results in clinical care. Yet since its inception, the Network has confronted a host of challenges in achieving these goals, many of which had ethical, legal, or social implications (ELSIs) that required consideration. Here, we share impediments we encountered in recruiting participants, returning results, and assessing their impact, all of which affected our ability to achieve the goals of eMERGE, as well as the steps we took to attempt to address these obstacles.

Patient preferences of patient selection criteria for upper extremity vascularized composite allotransplantation: A qualitative study.

Background: Upper extremity vascularized composite allotransplantation is a life-enhancing reconstructive treatment option that aims to improve recipients' quality of life and maximize function. This study assessed upper extremity vascularized composite allotransplantation patient selection criteria perceptions among individuals with upper extremity limb loss. The perceptions of individuals with upper extremity limb loss on patient selection criteria may enable vascularized composite allotransplantation centers to improve criteria to avoid mismatched expectations about the posttransplant vascularized composite allotransplantation experience and outcomes.

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.

Climate Change, Skin Health, and Dermatologic Disease: A Guide for the Dermatologist.

Climate change has a pervasive impact on health and is of clinical relevance to every organ system. Climate change-related factors impact the skin's capacity to maintain homeostasis, leading to a variety of cutaneous diseases. Stratospheric ozone depletion has led to increased risk of melanoma and keratinocyte carcinomas due to ultraviolet radiation exposure.

Education and electronic medical records and genomics network, challenges, and lessons learned from a large-scale clinical trial using polygenic risk scores.

Polygenic risk scores (PRS) have potential to improve health care by identifying individuals that have elevated risk for common complex conditions. Use of PRS in clinical practice, however, requires careful assessment of the needs and capabilities of patients, providers, and health care systems. The electronic Medical Records and Genomics (eMERGE) network is conducting a collaborative study which will return PRS to 25,000 pediatric and adult participants.

Concordance of International Regulation of Pediatric Health Research.

Objective: To assess the comparability of international ethics principles and practices used in regulating pediatric research as a first step in determining whether reciprocal deference for international ethics review is feasible. Prior studies by the authors focused on other aspects of international health research, such as biobanks and direct-to-participant genomic research. The unique nature of pediatric research and its distinctive regulation by many countries warranted a separate study.

Challenges of Integrating APOL1 Genetic Test Results into the Electronic Health Record.

Objectives: Integrating genetic test results into the electronic health record (EHR) is essential for integrating genetic testing into clinical practice. This article describes the organizational challenges of integrating discrete apolipoprotein L1 () genetic test results into the EHR for a research study on culturally sensitive genetic counseling for living kidney donors.

Methods: We convened a multidisciplinary team across three institutions (Northwestern University, Northwestern Memorial HealthCare [NMHC], and OHSU Knight Diagnostic Laboratories [KDL]), including researchers, physicians, clinical information technology, and project management.

The lived experience of prostate cancer: 10-year survivor perspectives following contemporary treatment of localized prostate cancer.

Purpose: Studies relying on standardized instruments to measure patient-centered harms and benefits of cancer treatment may fail to capture important elements of the lived experience of cancer patients. Further, qualitative studies on the survivorship experience of men with localized prostate cancer (PCa) are limited. We sought to explore the early experience, long-term experience, and advice provided for others among long-term survivors of localized PCa.

Ethical and Legal Considerations for Recording in the Operating Room: A Systematic Review.

Introduction: The integration of high-resolution video into surgical practice has fostered widespread interest in capturing surgical video recordings for the purposes of patient care, medical training, quality improvement, and documentation. The capture, analysis, and storing of such recordings inherently impact operating room (OR) activities and introduce potential harms to patients as well as members of the surgical team, which can be analyzed from both ethical and legal perspectives.

Methods: Following Preferred Reporting Items for Systematic Reviews and Meta Analyses (PRISMA) guidelines, a systematic literature search of PubMed was conducted.

Human-Centered Design to Address Biases in Artificial Intelligence.

The potential of artificial intelligence (AI) to reduce health care disparities and inequities is recognized, but it can also exacerbate these issues if not implemented in an equitable manner. This perspective identifies potential biases in each stage of the AI life cycle, including data collection, annotation, machine learning model development, evaluation, deployment, operationalization, monitoring, and feedback integration. To mitigate these biases, we suggest involving a diverse group of stakeholders, using human-centered AI principles.

Ethical Considerations in Critically Ill Neonatal and Pediatric Patients.

The care of critically ill neonates and pediatric patients can be particularly emotionally and ethically challenging. Emerging evidence suggests that we can improve the patient, family, and care team experience in the critical care setting through a better understanding and application of ethical frameworks and communication strategies. We conducted a multidisciplinary panel session at the American Academy of Pediatrics National Conference and Exhibition in the fall of 2022 wherein we explored a myriad of ethical and communication considerations in this unique patient population, with congenital diaphragmatic hernia (CDH) as the congenital anomaly/disease framework.

Financial, policy, and ethical barriers to the expansion of living donor liver transplant: Meeting report from a living donor liver transplant consensus conference.

Introduction: In October 2021, the American Society of Transplantation (AST) hosted a virtual consensus conference aimed at identifying and addressing barriers to the broader, safe expansion of living donor liver transplantation (LDLT) throughout the United States (US).

Methods: A multidisciplinary group of LDLT experts convened to address issues related to financial implications on the donor, transplant center crisis management, regulatory and oversight policies, and ethical considerations by assessing the relative significance of issues in preventing LDLT growth, with proposed strategies to overcome barriers.

Results: Living liver donors endure multiple obstacles including financial instability, loss of job security, and potential morbidity.

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.

Do Integrated Plastic Surgery Residency Program Websites and Instagram Accounts Address Diversity, Equity, and Inclusion?

Background: An authentic, programmatic commitment to diversity, equity, and inclusion (DEI) in plastic surgery is necessary to attract and retain a diverse workforce. Plastic surgery residency program websites and social media accounts are important sources of information about program values and culture for applicants, especially with the shift to virtual recruitment. Therefore, the authors sought to evaluate whether integrated plastic surgery residency programs address DEI through content on their websites and Instagram accounts.

A Patient-Centered Website (Within Reach) to Foster Informed Decision-making About Upper Extremity Vascularized Composite Allotransplantation: Development and Usability Study.

Background: Upper extremity (UE) vascularized composite allotransplantation (VCA; hand transplantation) is a reconstructive treatment option for patients with UE loss. Approximately 37 UE VCAs have been performed in the United States to date; thus, little is known about long-term psychosocial outcomes and whether the benefits outweigh the risks. To make an informed treatment decision, patients must understand the procedure, risks, and potential benefits of UE VCA.

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 ( = 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.

The impact of climate change on atopic dermatitis and mental health comorbidities: a review of the literature and examination of intersectionality.

Climate change, fueled by increasing concentrations of greenhouse gases, is associated with rising temperatures, extreme weather events, increased aeroallergen production, and air pollution. Our understanding that many inflammatory cutaneous diseases carry important mental health comorbidities is expanding. Simultaneously, the detrimental impacts of climate change on human health are now widely recognized as a global public health crisis.

Avoiding Liability and Other Legal Land Mines in the Evolving Genomics Landscape.

This article reviews evolving legal implications for clinicians and researchers as genomics is used more widely in both the clinic and in translational research, reflecting rapid changes in scientific knowledge as well as the surrounding cultural and political environment. Professionals will face new and changing duties to make or act upon a genetic diagnosis, address direct-to-consumer genetic testing in patient care, consider the health implications of results for patients' family members, and recontact patients when test results change over time. Professional duties in reproductive genetic testing will need to be recalibrated in response to disruptive changes to reproductive rights in the United States.