ABSTRACT
Family health history (FHH) is a valuable yet underused healthcare tool for assessing health risks for both prevalent disorders like diabetes, cancer, and cardiovascular diseases, and for rare, monogenic disorders. Full implementation of FHH collection and analysis in healthcare could improve both primary and secondary disease prevention for individuals and, through cascade testing, make at risk family members eligible for pre-symptomatic testing and preventative interventions. In addition to risk assessment in the clinic, FHH is increasingly important for interpreting clinical genetic testing results and for research connecting health risks to genomic variation. Despite this value, diverse implementation gaps in clinical settings undermine its potential clinical value and limit the quality of connected health and genomic data. The NHGRI Family Health History Group, an open-membership, US-based group with international members, believes that integrating FHH in healthcare and research is more important than ever, and that achievable implementation advances, including education, are urgently needed to boost the pace of translational utility in genomic medicine. An inventory of implementation gaps and proposed achievable strategies to address them, representing a consensus developed in meetings from 2019-2020, is presented here. The proposed measures are diverse, interdisciplinary, and are guided by experience and ongoing implementation and research efforts.
ABSTRACT
OBJECTIVES: This study was conducted to gauge the availability of bioinformatics end-user support services at US universities and to identify the providers of those services. The study primarily focused on the availability of short-term workshops that introduce users to molecular biology databases and analysis software. METHODS: Websites of selected US universities were reviewed to determine if bioinformatics educational workshops were offered, and, if so, what organizational units in the universities provided them. RESULTS: Of 239 reviewed universities, 72 (30%) offered bioinformatics educational workshops. These workshops were located at libraries (N = 15), bioinformatics centers (N = 38), or other facilities (N = 35). No such training was noted on the sites of 167 universities (70%). Of the 115 bioinformatics centers identified, two-thirds did not offer workshops. CONCLUSIONS: This analysis of university Websites indicates that a gap may exist in the availability of workshops and related training to assist researchers in the use of bioinformatics resources, representing a potential opportunity for libraries and other facilities to provide training and assistance for this growing user group.
