Precision Medicine—A Demand Signal for Genomics Education

ABSTRACT Pressed by the accumulating knowledge in genomics and the proven success of the translation of cancer genomics to clinical practice in oncology, the Obama administration unveiled a $215 million commitment for the Precision Medicine Initiative (PMI) in 2016, a pioneering research effort to improve health and treat disease using a new model of patient-powered research. The objectives of the initiative include more effective treatments for cancer and other diseases, creation of a voluntary national research cohort, adherence to privacy protections for maintaining data sharing and use, modernization of the regulatory framework, and forging public–private partnerships to facilitate these objectives. Specifically, the DoD Military Health System joined other agencies to execute a comprehensive effort for PMI. Of the many challenges to consider that may contribute to the implementation of genomics—lack of familiarity and understanding, poor access to genomic medicine expertise, needs for extensive informatics and infrastructure to integrate genomic results, privacy and security, and policy development to address the unique requirements of military medical practice—we will focus on the need to establish education in genomics appropriate to the provider’s responsibilities. Our hypothesis is that there is a growing urgency for the development of educational experiences, formal and informal, to enable clinicians to acquire competency in genomics commensurate with their level of practice. Several educational approaches, both in practice and in development, are presented to inform decision-makers and empower military providers to pursue courses of action that respond to this need.

Are We Prepared for Precision Public Health? An Examination of Genomics Content in Graduate Public Health Programs

Objective With the completion of the Human Genome Project and swift development of genomic technologies, public health practitioners can use these advancements to more precisely target disease interventions to populations at risk. To integrate these innovations into better health outcomes, public health professionals need to have at least a basic understanding of genomics within various disciplines of public health. This descriptive study focused on the current level of genomics content in accredited master of public health (MPH) programs in the United States. Methods We conducted an internet search on all 171 Council on Education for Public Health (CEPH)–accredited MPH programs in the United States for genomics content in required and elective courses using the search terms “genetics,” “genomics,” and “molecular.” Results Of the 171 CEPH-accredited MPH programs examined, 52 (30.4%) schools and programs in 34 states offered some type of genomics education. Thirty-five (20.5%) schools and programs had a course in genetic epidemiology, 29 (16.9%) had a course in genetic biostatistics or bioinformatics, and 17 (9.9%) had a course in general public health genomics. The remaining 119 offered no course with a focus on genetics or genomics. In addition, some electives or specifically focused courses related to genomics were offered. Conclusion We found inadequate training in public health genomics for MPH students. To realize the promise of precision public health and to increase the understanding of genomics among the public health workforce, MPH programs need to find ways to integrate genomics education into their curricula.

Measuring physician practice, preparedness and preferences for genomic medicine: a national survey

ObjectiveEven as genomic medicine is implemented globally, there remains a lack of rigorous, national assessments of physicians’ current genomic practice and continuing genomics education needs. The aim of this study was to address this gap.DesignA cross-sectional survey, informed by qualitative data and behaviour change theory, to assess the current landscape of Australian physicians’ genomic medicine practice, perceptions of proximity and individual preparedness, and preferred models of practice and continuing education. The survey was advertised nationally through 10 medical colleges, 24 societies, 62 hospitals, social media, professional networks and snowballing.Results409 medical specialists across Australia responded, representing 30 specialties (majority paediatricians, 20%), from mainly public hospitals (70%) in metropolitan areas (75%). Half (53%) had contacted their local genetics services and half (54%) had ordered or referred for a gene panel or exome/genome sequencing test in the last year. Two-thirds (67%) think genomics will soon impact their practice, with a significant preference for models that involved genetics services (p<0.0001). Currently, respondents mainly perform tasks associated with pretest family history taking and counselling, but more respondents expect to perform tasks at all stages of testing in the future, including tasks related to the test itself, and reporting results. While one-third (34%) recently completed education in genomics, only a quarter (25%) felt prepared to practise. Specialists would like (more) education, particularly on genomic technologies and clinical utility, and prefer this to be through varied educational strategies.ConclusionsThis survey provides data from a breadth of physician specialties that can inform models of genetic service delivery and genomics education. The findings support education providers designing and delivering education that best meet learner needs to build a competent, genomic-literate workforce. Further analyses are underway to characterise early adopters of genomic medicine to inform strategies to increase engagement.

Nursing Genetics and Genomics Education in Indonesia: Philosophy and Ethics Study (a Hermeneutics Approach)

This study was conducted to provide a philosophical and ethical description of the development of genetics and genomics nursing science and the importance of its incorporation into nursing education in Indonesia. Researchers have adopted five of the seven steps of the Heideggerian hermeneutics. All data has been obtained from literature research. The qualitative analysis of secondary data has applied the data analysis. The Coherence theory of truth criteria has been applied to maintain the consistency of scientific truth. The consistent statement system has used the principle of logic as a guide to interpreting the facts and opinions of others adequately. Nursing genetics and genomics is an ethical, philosophical product of nursing science development and a new scope of science as an adaptation to global health issues. The areas of science in nursing need to be developed further by placing genetics and genomics issues that can be adapted into the curriculum of the nursing higher education curriculum in Indonesia. Keywords: Education; Ethics; Genetics; Genomics; Philosophy

Texas health educators’ practice in basic genomics education and services

Background: Health educators (HEs), who are specialized in health education, can provide basic genomics education/services to the public. Such practice of HEs is unknown. We examined HEs’ genomics knowledge and practice, intention, attitudes, self-efficacy and perceived barriers in providing basic genomics education/services. Materials & methods: Texas HEs (n = 662) were invited to complete the survey that was developed based on theoretical constructs (i.e., practice/behavior, intention, attitudes, self-efficacy, knowledge and perceived barriers) from various health behavior theories. Results: Among 182 HEs completed the survey, most had never/seldom provided basic genomics education/services. Participants’ practice was positively associated with their intention in performing basic genomics education/services and previous genomics training. Intention to offer such education/services was positively related to HEs’ self-efficacy and attitudes, which were correlated to previous genomics training. Conclusion: Texas HEs lacked basic genomics education/services practice. As previous genomics training was associated with HEs’ practice, providing continuing education may enhance their practice.

Manual Annotation of Genes within Drosophila Species: the Genomics Education Partnership protocol

Annotating the genomes of multiple organisms allows us to study their genes as well as the evolution of those genes. While many eukaryotic genome assemblies already include computational gene predictions, these predictions can benefit from review and refinement through manual gene annotation. The Genomics Education Partnership (GEP; thegep.org) has developed an annotation protocol for protein-coding genes that enables undergraduate students and other researchers to create high-quality gene annotations that can be utilized in subsequent scientific investigations. For example, this protocol has been utilized by the GEP faculty to engage undergraduate students in the comparative annotation of genes involved in the insulin signaling pathway in 28 Drosophila species, using D. melanogaster as the informant genome. Students construct gene models using multiple lines of computational and experimental evidence including expression data (e.g., RNA-Seq), sequence similarity (e.g., BLAST, multiple sequence alignments), and computational gene predictions. For quality control, each gene is annotated by at least two students working independently, followed by reconciliation of the submitted gene models by a more experienced student. This article provides an overview of the annotation protocol and describes how discrepancies in student submitted gene models are resolved to produce a final, high-quality gene set suitable for subsequent analyses. This annotation protocol can be adapted to other scientific questions (e.g., expansion of the Drosophila Muller F element) and other species (e.g., parasitoid wasps) to provide additional opportunities for undergraduate students to participate in genomics research. These student annotation efforts can substantially improve the quality of gene annotations in publicly available genomic databases.