Alaska Native genomic research: perspectives from Alaska Native leaders, federal staff, and biomedical researchers.

Meaningful engagement of Alaska Native (AN) tribes and tribal health organizations is essential in the conduct of socially responsible and ethical research. As genomics becomes increasingly important to advancements in medicine, there is a risk that populations not meaningfully included in genomic research will not benefit from the outcomes of that research. AN people have historically been underrepresented in biomedical research; AN underrepresentation in genomics research is compounded by mistrust based on past abuses, concerns about privacy and data ownership, and cultural considerations specific to this type of research. Working together, the National Human Genome Research Institute and two Alaska Native health organizations, Southcentral Foundation and the Alaska Native Health Board, cosponsored a workshop in July 2018 to engage key stakeholders in discussion, strengthen relationships, and facilitate partnership and consideration of participation of AN people in community-driven biomedical and genomic research. AN priorities related to translation of genomics research to health and health care, return of genomic results, design of research studies, and data sharing were discussed. This report summarizes the perspectives that emerged from the dialogue and offers considerations for effective and socially responsible genomic research partnerships with AN communities.

Defining and Achieving Health Equity in Genomic Medicine.

The potential of genomics to improve health comes with the peril that the benefits will not be equitably available to all populations. Existing health disparities can be exacerbated if the implementation of genomic medicine does not intentionally focus on health equity. Defining what health equity means in the context of genomics and outlining how it can be achieved is important for the future of the field. Strategies to improve health equity include addressing underrepresentation of diverse populations in genomic research, investigating how genomic services can be deployed in diverse health care settings and underserved communities, increasing workforce diversity, supporting infrastructure development outside traditional research centers, and engaging communities and health care providers. By employing these strategies, the genomic research community can advance health equity in genomic medicine.

Review of X-linked syndromes with arthrogryposis or early contractures-aid to diagnosis and pathway identification.

The following is a review of 50 X-linked syndromes and conditions associated with either arthrogryposis or other types of early contractures. These entities are categorized as those with known responsible gene mutations, those which are definitely X-linked, but the responsible gene has not been identified, and those suspected from family history to be X-linked. Several important ontology pathways for known disease genes have been identified and are discussed in relevance to clinical characteristics. Tables are included which help to identify distinguishing clinical features of each of the conditions.

Executive action to combat the rise of drug-resistant bacteria: is agricultural antibiotic use sufficiently addressed?

On September 18, 2014, President Barack Obama issued an Executive Order titled Combating Antibiotic-Resistant Bacteria. The order demands a 'strategic, coordinated, and sustained effort' to detect, prevent, and control antibiotic resistance. According to the Centers for Disease Control and Prevention (CDC), antibiotic-resistant infections are a rising health concern that result in at least two million illnesses and 23,000 deaths each year in the United States. The Executive Order and accompanying documents have been criticized for taking a weak stance against the use of antibiotics in agriculture; however, they include goals to promote antibiotic stewardship on farms, better surveillance of antibiotic use, and the development of alternatives to antibiotics. The criticisms are also unwarranted based on the current state of scientific evidence; nevertheless, there remain compelling reasons to limit the use of antibiotics in agriculture, and if fully implemented, the executive action is set to achieve this goal. This paper will explore why the criticisms are unwarranted, present the conflicting evidence on whether antibiotic use in farm animals poses a significant health threat to humans, offer other reasons to limit the use of antibiotics in livestock, and suggest ways that the government can maximize the efficacy of the proposed actions.