Exploring the role of digital tools in rare disease management: An interview-based study.

While digital tools, such as the Internet, smartphones, and social media, are an important part of modern society, little is known about the specific role they play in the healthcare management of individuals and caregivers affected by rare disease. Collectively, rare diseases directly affect up to 10% of the global population, suggesting that a significant number of individuals might benefit from the use of digital tools. The purpose of this qualitative interview-based study was to explore: (a) the ways in which digital tools help the rare disease community; (b) the healthcare gaps not addressed by current digital tools; and (c) recommended digital tool features.

Genetic research within Indigenous communities: Engagement opportunities and pathways forward.

Purpose: Against a historical backdrop of researchers who violated trust through lack of benefit sharing, transparency, and engagement, efforts are underway to develop better approaches for genetic and genomic research with Indigenous communities. To increase engagement, there is a need to understand factors that affect researcher and community collaborations. This study aimed to understand the barriers, challenges, and facilitators of Indigenous Peoples in the United States participating in genetic research.

Genetic research with Indigenous Peoples: perspectives on governance and oversight in the US.

Introduction: Indigenous Peoples are increasingly exerting governance and oversight over genomic research with citizens of their nations, raising questions about how best to enforce research regulation between American Indian, Alaska Native, and Native Hawaiian peoples and researchers.

Methods: Using a community-engaged research approach, we conducted 42 semi-structured interviews with Tribal leaders, clinicians, researchers, policy makers, and Tribal research review board members about their perspectives on ethical issues related to genetics research with Indigenous Peoples in the US.

Results: We report findings related to (1) considerations for Indigenous governance, (2) institutional relationships upholding sovereignty, (3) expectations for research approvals, and (4) agreements enacting Indigenous governance.

Indigenous Peoples and research: self-determination in research governance.

Indigenous Peoples are reimagining their relationship with research and researchers through greater self-determination and involvement in research governance. The emerging discourse around Indigenous Data Sovereignty has provoked discussions about decolonizing data practices and highlighted the importance of Indigenous Data Governance to support Indigenous decision-making and control of data. Given that much data are generated from research, Indigenous research governance and Indigenous Data Governance overlap.

An Ethical Framework for Research Using Genetic Ancestry.

A wide range of research uses patterns of genetic variation to infer genetic similarity between individuals, typically referred to as genetic ancestry. This research includes inference of human demographic history, understanding the genetic architecture of traits, and predicting disease risk. Researchers are not just structuring an intellectual inquiry when using genetic ancestry, they are also creating analytical frameworks with broader societal ramifications.

Equity Concerns Across Pediatric Research Recruitment: An Analysis of Research Staff Interviews.

Background And Objectives: Difficulty recruiting individuals from minoritized and underserved populations for clinical research is well documented and has health equity implications. Previously, we reported findings from interviews with research staff about pediatric research recruitment processes. Respondents raised equity concerns related to recruitment and enrollment of participants from minoritized, low resourced, and underserved populations.

A draft human pangenome reference.

Here the Human Pangenome Reference Consortium presents a first draft of the human pangenome reference. The pangenome contains 47 phased, diploid assemblies from a cohort of genetically diverse individuals. These assemblies cover more than 99% of the expected sequence in each genome and are more than 99% accurate at the structural and base pair levels.

Wrestling with Public Input on an Ethical Analysis of Scientific Research.

Bioethicists frequently call for empirical researchers to engage participants and community members in their research, but don't themselves typically engage community members in their normative research. In this article, we describe an effort to include members of the public in normative discussions about the risks, potential benefits, and ethical responsibilities of social and behavioral genomics (SBG) research. We reflect on what might-and might not- be gained from engaging the public in normative scholarship and on lessons learned about public perspectives on the risks and potential benefits of SBG research and the responsible conduct and communication of such research.

Wrestling with Social and Behavioral Genomics: Risks, Potential Benefits, and Ethical Responsibility.

In this consensus report by a diverse group of academics who conduct and/or are concerned about social and behavioral genomics (SBG) research, the authors recount the often-ugly history of scientific attempts to understand the genetic contributions to human behaviors and social outcomes. They then describe what the current science-including genomewide association studies and polygenic indexes-can and cannot tell us, as well as its risks and potential benefits. They conclude with a discussion of responsible behavior in the context of SBG research.

Relationship building in pediatric research recruitment: Insights from qualitative interviews with research staff.

Introduction: Clinical research staff play a critical role in recruiting families for pediatric research, but their views are not well described. We aimed to describe how pediatric research staff build trusting research relationships with patients and their families.

Methods: We interviewed research staff at one pediatric research institution and its affiliated academic medical center between November 2020 and February 2021.

Values and Practices to Strengthen Genetic Research Partnerships with Indigenous Communities.

Genetic datasets lack diversity and include very few data from Indigenous populations. Research models based on equitable partnership have the potential to increase Indigenous participation and have led to successful collaborations. We report here on a meeting of participants in four Indigenous community-university partnerships pursuing research on precision medicine.

Extending the CARE Principles from tribal research policies to benefit sharing in genomic research.

Indigenous Peoples have historically been targets of extractive research that has led to little to no benefit. In genomics, such research not only exposes communities to harms and risks of misuse, but also deprives such communities of potential benefits. Tribes in the US have been exercising their sovereignty to limit this extractive practice by adopting laws and policies to govern research on their territories and with their citizens.

A qualitative study of COVID-19 vaccine decision making among urban Native Americans.

Background: Significant disparities in COVID-19 morbidity and mortality exist for Native American (NA) people, the majority of whom live in urban areas. COVID-19 vaccination is a key strategy for mitigating these disparities; however, vaccination disparities affect NA communities. The current study investigated COVID-19 vaccine decision-making before widespread vaccine rollout occurred, among urban NA communities.

Addressing underrepresentation in genomics research through community engagement.

The vision of the American Society of Human Genetics (ASHG) is that people everywhere will realize the benefits of human genetics and genomics. Implicit in that vision is the importance of ensuring that the benefits of human genetics and genomics research are realized in ways that minimize harms and maximize benefits, a goal that can only be achieved through focused efforts to address health inequities and increase the representation of underrepresented communities in genetics and genomics research. This guidance is intended to advance community engagement as an approach that can be used across the research lifecycle.

Is there a way to reduce the inequity in variant interpretation on the basis of ancestry?

The underrepresentation of non-European ancestry groups in current genomic databases complicates interpretation of their genetic test results, yielding a much higher prevalence of variants of uncertain significance (VUSs). Such VUS findings can frustrate the goals of genetic testing, create anxiety in patients, and lead to unnecessary medical interventions. Approaches to addressing underrepresentation of people with genetic ancestries other than European are being undertaken by broad-based recruitment efforts.

"The System Doesn't Let Us in"-A Call for Inclusive COVID-19 Vaccine Outreach Rooted in Los Angeles Latinos' Experience of Pandemic Hardships and Inequities.

Objective: Latino adults in Los Angeles have experienced disproportionate cases, deaths, and socioeconomic impacts from the COVID-19 pandemic. This qualitative study aimed to explore community perspectives on readiness for COVID-19 vaccination and to identify culturally tailored vaccine outreach strategies.

Methods: We conducted virtual focus groups with Los Angeles County Latino/a residents via Zoom between December 2020 to January 2021, as the first COVID-19 vaccines were receiving Emergency Use Authorization (EUA).

Ethical Guidance in Human Paleogenomics: New and Ongoing Perspectives.

Over the past two decades, the study of ancient genomes from Ancestral humans, or human paleogenomic research, has expanded rapidly in both scale and scope. Ethical discourse has subsequently emerged to address issues of social responsibility and scientific robusticity in conducting research. Here, we highlight and contextualize the primary sources of professional ethical guidance aimed at paleogenomic researchers.

The Human Pangenome Project: a global resource to map genomic diversity.

The human reference genome is the most widely used resource in human genetics and is due for a major update. Its current structure is a linear composite of merged haplotypes from more than 20 people, with a single individual comprising most of the sequence. It contains biases and errors within a framework that does not represent global human genomic variation.

Getting genetic ancestry right for science and society.

We must embrace a multidimensional, continuous view of ancestry and move away from continental ancestry categories.

Using Indigenous Standards to Implement the CARE Principles: Setting Expectations through Tribal Research Codes.

Biomedical data are now organized in large-scale databases allowing researchers worldwide to access and utilize the data for new projects. As new technologies generate even larger amounts of data, data governance and data management are becoming pressing challenges. The FAIR principles (Findable, Accessible, Interoperable, and Reusable) were developed to facilitate data sharing.

Perspectives on Genetic Research: Results From a Survey of Navajo Community Members.

The Navajo Nation placed a moratorium on genetic research studies in 2002, in part due to concerns about historical distrust, exploitation, limited expertise and resources, and the lack of a genetics policy. Navajo tribal leaders, scientists, and policy experts are exploring the possibility of lifting the moratorium, developing a genetic research policy, and discussing its potential health implications. This study aimed to identify the key concerns, needs, and desires of Navajo people regarding genetic research.