The Genomic Medicine Integrative Research Framework: A Conceptual Framework for Conducting Genomic Medicine Research.

Conceptual frameworks are useful in research because they can highlight priority research domains, inform decisions about interventions, identify outcomes and factors to measure, and display how factors might relate to each other to generate and test hypotheses. Discovery, translational, and implementation research are all critical to the overall mission of genomic medicine and prevention, but they have yet to be organized into a unified conceptual framework. To fill this gap, our diverse team collaborated to develop the Genomic Medicine Integrative Research (GMIR) Framework, a simple but comprehensive tool to aid the genomics community in developing research questions, strategies, and measures and in integrating genomic medicine and prevention into clinical practice. Here we present the GMIR Framework and its development, along with examples of its use for research development, demonstrating how we applied it to select and harmonize measures for use across diverse genomic medicine implementation projects. Researchers can utilize the GMIR Framework for their own research, collaborative investigations, and clinical implementation efforts; clinicians can use it to establish and evaluate programs; and all stakeholders can use it to help allocate resources and make sure that the full complexity of etiology is included in research and program design, development, and evaluation.

How Can Law Support Development of Genomics and Precision Medicine to Advance Health Equity and Reduce Disparities?

There is growing recognition that the genomic and precision medicine revolution in health care can deepen health disparities. This has produced urgent calls to prioritize inclusion of historically underrepresented populations in research and to make genomic databases more inclusive. Answering the call to address health care disparities in the delivery of genomic and precision medicine requires a consideration of important, yet understudied, legal issues that have blocked progress. This article introduces a special issue of Ethnicity & Disease which contains a series of articles that grew out of a public conference to investigate these legal issues and propose solutions. This 2018 conference at Meharry Medical College was part of an NIH-funded project on "LawSeqSM" to evaluate and improve the law of genomics in order to support appropriate integration of genomics into clinical care. This conference was composed of presentations and interactive sessions designed to specify the top legal barriers to health equity in precision medicine and stimulate potential solutions. This article synthesizes the results of those discussions. Multiple legal barriers limit broad inclusion in genomic research and the development of precision medicine to advance health equity. Problems include inadequate privacy and anti-discrimination protections for research participants, lack of health coverage and funding for follow-up care, failure to use law to ensure access to genomic medicine, and practices by research sponsors that tolerate and entrench disparities. Analysis of the legal barriers to health equity in precision medicine is essential for progress. Progressive use of law is vital to avoid worsening of health care disparities.

The psychosocial impact of leg ulcers in patients with sickle cell disease: I don't want them to know my little secret.

BACKGROUND: Sickle cell disease (SCD) impacts millions of individuals worldwide and more than 100,000 people in the United States. Leg ulcers are the most common cutaneous manifestation of SCD. The health status of individuals living with chronic leg ulcers is not only influenced by clinical manifestations such as pain duration and intensity, but also by psychosocial factors. Garnering insights into the psychosocial impact can provide a more holistic view of their influence on quality of life. METHODS: Semi-structured interviews were conducted with participants living with active SCD-associated leg ulcers or with a history of ulcers. Subjects were recruited from an ongoing study (INSIGHTS, Clin Trial.Gov NCT02156102) and consented to this qualitative phase of the study. Five areas were explored: leg ulcer pain, physical function, social-isolation, social relationships and religious support. Data was collected from 20 individuals during these interviews and a thematic analysis was performed and reported. RESULTS: Twenty participants with a mean age of 42.4 (SD ± 11.1years) were included in the study. Major themes identified included:1) pain (acute and chronic); 2) compromised physical function as demonstrated by decreased ability to walk, run, and play sports; 3) social isolation from activities either by others or self-induced as a means of avoiding certain emotions, such as embarrassment; 4) social relationships (family support and social network); 5) support and comfort through their religion or spirituality. CONCLUSIONS: SCD patients with leg ulcers expressed that they experience social isolation, intense and frequent ulcer pain, and difficulty in physical function. SCD-associated leg ulcers have been studied from a clinical approach, but the psychosocial factors investigated in this study informs how quality of life is impacted by the leg ulcers.