Elective genomic sequencing (EGS) returns monogenic disease findings in multiple genes, including potentially novel variants, and may also provide participants with carrier status, pharmacogenomic and other health-related information. The PeopleSeq Study assessed participants’ motivations for and concerns about EGS and the associated clinical and psychosocial outcomes across diverse EGS providers. We administered a shared questionnaire to participants who chose to undergo EGS via 18 academic, clinical, or commercial EGS platforms. We enrolled 1575 participants, of whom 1147 (72.8

To meet the specific education needs of ethics committee members (primarily full-time healthcare professionals), the Regional Ethics Department of Kaiser Permanente Northern California (KPNCAL) and Washington State University's Elson Floyd School of Medicine have partnered to create a one-academic year Medical Ethics Certificate Program. The mission-driven nature of the KPNCAL-WSU's Certificate Program was designed to be a low-cost, high-quality option for busy full-time practitioners who may not otherwise opt to pursue additional education. This article discusses the specific competency-focused methodologies and pedagogies adopted, as well as how the Certificate Program made permanent changes in response to the global pandemic. This article also discusses in detail one of the Program's signature features, its Practicum-an extensive simulated clinical ethics consultation placing students in the role of ethics consultant, facilitating a conflict between family members played by paid professional actors. This article concludes with survey data responses from Program alumni gathered as part of a quality study.

Ensuring diversity in genomic research is crucial to address disparities in healthcare benefits experienced by Black Americans and other minority groups. Despite progress in promoting diversity, Black Americans remain underrepresented in most genetic studies, resulting in unequal access to the benefits of genetic medicine. This study investigates trusted sources of medical and genetic testing information among Black and White Americans, identifying key factors that influence trust and participation in genetic research. Using an online survey of 1,018 participants (Black Americans n = 500, White Americans n = 518), we analyzed trust and bias ratings across various sources, including medical providers, genetic counselors, and social media. Medical providers emerged as the most trusted source for both medical and genetic information across racial groups. In terms of bias, social media was viewed as most biased and medical providers as least biased across both groups. However, Black Americans reported significantly lower trust in medical providers and scientific literature compared to White Americans. Furthermore, Black Americans expressed a stronger preference for receiving medical information from individuals of the same race or ethnicity. These findings highlight the importance of tailoring communication outlets and strategies to address the specific trust concerns of underrepresented populations. Efforts to engage Black Americans in genetic research may benefit from increased involvement of medical providers and genetic counselors, improved transparency, and culturally relevant communication. By addressing these factors, the research community can work towards reducing disparities and promoting equitable access to the benefits of genetic medicine.

This symposium includes twelve personal narratives from those who have received clinical ethics consultation (CEC) services as a healthcare provider, patient, family member, or patient advocate. Three commentaries on these narratives are also included, authored by experts and scholars in bioethics, healthcare ethics consultation and certification, narrative medicine, and policy. The goal of this symposium is to call attention to the experiences of people who have received clinical ethics consultation (CEC) services as a healthcare provider, patient, family member, or patient advocate.

Health technologies featuring artificial intelligence (AI) are becoming more common. Some healthcare AIs are exhibiting bias towards underrepresented persons and populations. Although many computer scientists and healthcare professionals agree that eliminating or mitigating bias in healthcare AIs is needed, little information exists regarding how to operationalize bioethics principles like autonomy in product design and implementation. This short course is framed with a Social Determinants of Health lens and a health justice and health equity stance to support computer scientists and healthcare professionals in building and deploying ethical healthcare AI. In this short course we introduce the bioethics principle of autonomy in the context of human-centered design (Module 1) and share options for design thinking models, suggesting four activities to embed ethics principles during design (Module 2). We then discuss the importance of gaining the perspectives of diverse groups to minimize harm and support the fundamental human values of underrepresented persons in support of health equity and health justice ideals (Module 3).

Tremendous progress has been made promoting diversity in recruitment for genomic research, yet challenges remain for several racial demographics. Research has cited intertwined fears of racial discrimination and medical mistrust as contributing factors. This study aimed to identify key factors to establishing trust in medical and genomic screening and research among African Americans and White Americans. Participants completed online focus groups and resulting transcripts were analyzed using a qualitative descriptive approach, with content analysis methods based on recommendations by Schreier. Fifteen African Americans and 23 Caucasian Americans participated in the study, 63% of which were female. The mean age of participants was 38.53 (SD = 16.6). The Overarching Theme of Trust is Context Dependent was identified, along with the following five themes describing elements influencing trustworthiness for our participants: 1) Professional Experience, Education, and Training Bolster Trust; 2) Trust Depends on Relationships; 3) Cross-checking Provided Information is Influential in Establishing Trust; 4) Trust is Undermined by Lack of Objectivity and Bias; and 5) Racism is an Embedded Concern and a Medical Trust Limiting Component for African Americans. To effectively address mistrust and promote recruitment of diverse participants, genomic research initiatives must be communicated in a manner that resonates with the specific diverse communities targeted. Our results suggest key factors influencing trust that should be attended to if we are to promote equity appropriately and respectfully by engaging diverse populations in genomic research.

The importance of privacy is one of the most widely recognized and influential values in modern medicine. Defined as a state of being free from observation or unauthorized intrusion, privacy is a broad social value that applies across research and medical intervention, including genetics. Because of the potential for privacy-related harms, several protections have been instated (e.g., HIPAA, GINA, the Common Rule, and Certificates of Confidentiality). Irrespective of these protections, there are ongoing concerns and emerging risks related to genetic privacy that must be considered. This chapter describes the importance of privacy, privacy-related harms, protection of privacy in medicine and research, ongoing concerns and emerging risks related to genetic privacy.

The Alabama Genomic Health Initiative (AGHI) is a state-funded, IRB-approved study that since 2017 has pursued the goals of providing access to genomic technologies to a diverse population and exploring the utility and impact of population-based screening for rare Mendelian disorders. In 2021, the AGHI, a collaboration between the University of Alabama at Birmingham (UAB) and the HudsonAlpha Institute for Biotechnology, partnered with UAB Family and Community Medicine to recruit participants for population-based screening and return medically-actionable results to both participants and their primary care providers.

CONTENT This study examines the potential utility of genetic testing as a supplement to family health history to screen for increased risk of inherited disease. Medical conditions are often misreported or misunderstood, especially those related to different forms of cardiac disease (arrhythmias vs. structural heart disease vs. coronary artery disease), female organ cancers (uterine vs. ovarian vs. cervical), and type of cancer (differentiating primary cancer from metastases to other organs). While these nuances appear subtle, they can dramatically alter medical management. For example, different types of cardiac failure (structural, arrhythmia, and coronary artery disease) have inherited forms that are managed with vastly different approaches. METHODS Using a dataset of over 6,200 individuals who underwent genetic screening, we compared the ability of genetic testing and traditional family health history to identify increased risk of inherited disease. A further, in-depth qualitative study of individuals for whom risk identified through each method was discordant, explored whether this discordance could be addressed through changes in family health history intake. FINDINGS Of 90 individuals for whom genetic testing indicated significant increased risk for inherited disease, two-thirds (66%) had no corroborating family health history. Specifically, we identify cardiomyopathy, arrhythmia, and malignant hyperthermia as conditions for which discordance between genetic testing and traditional family health history was greatest, and familial hypercholesterolaemia, Lynch syndrome, and hereditary breast and ovarian cancer as conditions for which greater concordance existed. CONCLUSION We conclude that genetic testing offers utility as a supplement to traditional family health history intake over certain conditions.

Direct-to-consumer (DTC) genetic testing has challenged the traditional healthcare delivery model and empowered individuals to control their own health, wellness, and lifestyle choices. Some of the services offered, however, can be utilized for reproductive purposes with serious ethical implications. Carrier status tests and noninvasive prenatal tests (NIPT) may potentially allow customers to make decisions about whether they wish to terminate pregnancy or what features they wish for their children to have. This chapter discusses the risks and benefits of DTC genetic testing in the reproductive context, explicating the limited scope and accuracy of test results and the arbitrary nature of its interpretation algorithms. The chapter discusses the profound effects on personal autonomy, informed consent, and the ethics of altering a person's fate. It concludes with a call for transparency about limits, risks, and respect for persons, including the next generation of individuals that unborn fetuses may grow to become.

OBJECTIVES/GOALS: Supported by the State of Alabama, the Alabama Genomic Health Initiative (AGHI) is aimed at preventing and treating common conditions with a genetic basis. This joint UAB Medicine-HudsonAlpha Institute for Biotechnology effort provides genomic testing, interpretation, and counseling free of charge to residents in each of Alabama’s 67 counties. METHODS/STUDY POPULATION: Launched in 2017, as a state-wide population cohort, AGHI (1.0) enrolled 6,331 Alabamians and returned individual risk of disease(s) related to the ACMG SF v2.0 medically actionable genes. In 2021, the cohort was expanded to include a primary care cohort. AGHI (2.0) has enrolled 750 primary care patients, returning individual risk of disease(s) related to the ACMG SF v3.1 gene list and pre-emptive pharmacogenetics (PGx) to guide medication therapy. Genotyping is done on the Illumina Global Diversity Array with Sanger sequencing to confirm likely pathogenic / pathogenic variants in medically actionable genes and CYP2D6 copy number variants using Taqman assays, resulting in a CLIA-grade report. Disease risk results are returned by genetic counselors and Pharmacogenetics results are returned by Pharmacists. RESULTS/ANTICIPATED RESULTS: We have engaged a statewide community (>7000 participants), returning 94 disease risk genetic reports and 500 PGx reports. Disease risk reports include increased predisposition to cancers (n=38), cardiac diseases (n=33), metabolic (n=12), other (n=11). 100% of participants harbor an actionable PGx variant, 70% are on medication with PGx guidance, 48% harbor PGx variants and are taking medications affected. In 10% of participants, pharmacists sent an active alert to the provider to consider/ recommend alternative medication. Most commonly impacted medications included antidepressants, NSAIDS, proton-pump inhibitors and tramadol. To enable the EMR integration of genomic information, we have developed an automated transfer of reports into the EMR with Genetics Reports and PGx reports viewable in Cerner. DISCUSSION/SIGNIFICANCE: We share our experience on pre-emptive implementation of genetic risk and pharmacogenetic actionability at a population and clinic level. Both patients and providers are actively engaged, providing feedback to refine the return of results. Real time alerts with guidance at the time of prescription are needed to ensure future actionability and value.

PURPOSE:Assessing the risk of common, complex diseases requires consideration of clinical risk factors as well as monogenic and polygenic risks, which in turn may be reflected in family history. Returning risks to individuals and providers may influence preventive care or use of prophylactic therapies for those individuals at high genetic risk. METHODS:To enable integrated genetic risk assessment, the eMERGE (electronic MEdical Records and GEnomics) network is enrolling 25,000 diverse individuals in a prospective cohort study across 10 sites. The network developed methods to return cross-ancestry polygenic risk scores, monogenic risks, family history, and clinical risk assessments via a genome-informed risk assessment (GIRA) report and will assess uptake of care recommendations after return of results. RESULTS:GIRAs include summary care recommendations for 11 conditions, education pages, and clinical laboratory reports. The return of high-risk GIRA to individuals and providers includes guidelines for care and lifestyle recommendations. Assembling the GIRA required infrastructure and workflows for ingesting and presenting content from multiple sources. Recruitment began in February 2022. CONCLUSION:Return of a novel report for communicating monogenic, polygenic, and family history-based risk factors will inform the benefits of integrated genetic risk assessment for routine health care.

There are approximately 400 000 children in foster care in the US, approximately one-half of whom have chronic health problems and approximately 10% of whom have complex healthcare needs. Given the increasing relevance of genomic sequencing to guide clinical care for children with rare, chronic, and undiagnosed conditions, it may be an important component of diagnostic evaluation for children in foster care. Clinically indicated genomic sequencing may provide information that has health implications for children in foster care, as well as for their biological parents and other relatives. Whether and how genomic sequencing results impact legal decision making and family court outcomes is not yet well-understood. We describe scenarios that highlight legal, ethical, and policy issues surrounding genomic sequencing for children in foster care using 3 cases adapted from real-world events. Together, these cases highlight important yet underexplored issues that arise when genomic information has legal relevance in family court and ethical implications for child and family well-being. As genomic sequencing becomes more routine for the general pediatric population, additional research is needed to better understand its impacts on children and other stakeholders within the foster care system.

The Alabama Genomic Health Initiative (AGHI) is a state-supported, IRB-approved research study, that began in 2017 to explore the utility and impact of population-based screening for rare Mendelian disorders, and has helped to serve as a model and platform for other participant-facing programs. Over the last year a new model has been developed that is focused on health care providers, with a primary goal to bring and apply genomic knowledge in a primary care setting.

Ethical issues in genetics are studied and addressed under the rubric of what is commonly referred to as “ELSI”: the Ethical, Legal, and Social Implications of genetics. In this chapter, we will focus on a subset of ELSI issues in genetic medicine that surround common applications of genetics in general clinical settings. Common ethical issues arising for healthcare ethics committee (HEC) members from genetic technology gravitate toward concerns to assure that genetic testing results are utilized in ethically appropriate ways to identify risk, and develop treatment or health maintenance plans consistent with patient values. This will most commonly take the general form of: (1) protecting against harms that are motivated by unreliable results; (2) promoting informed consent by addressing misunderstanding, misapplication, or unwarranted reaction to genetic testing results on the part of either patients, their families, or members of the healthcare team; or (3) assuring that patient privacy is maintained and applied in appropriate circumstances.

The Target Article by Sabatello et al. (2021) should prove significant in advancing recognition of, and discussion concerning how, race is embedded in allocation strategies adopted in pandemic resp...

The target article by Christopher Meyers (2021) concerning justification of deception for clinical ethicists is both well-reasoned and plausible. Clearly grounded in utilitarian considerations, its...