Genomic literacy plays a critical role in informed decision-making for genomic testing, in the implementation of the test and the accurate interpretation of the results, and in our policy making process as a society. The National Human Genome Research Institute's 2011 vision for the future of genomic medicine specifically cites the need for both providers and consumers to achieve genomic literacy. Yet despite its importance, there is no effective tool for assessing genomic literacy. Deploying a common, rigorously validated measure will reduce duplicated effort among study groups, increase the quality of genomic literacy data, and enable comparison and meta-analysis. Existing literacy measures are focused on genetics as opposed to genomics, do not incorporate modern genomic technologies or are only informative over a limited range of examinee knowledge levels. In this pilot project, our aim is to define, test and preliminarily validate an item bank o genomics knowledge questions. First, we will assemble an up-to-date and comprehensive list of genetics and genomics concepts that will comprise the content domain and refine that list via focus groups with stakeholders. Then, we will assemble an item bank of 200 multiple-choice questions, and refine those items via individual cognitive interviews. We will test the item bank in a diverse cohort (500 examinees per item) drawn from the general public, students in genomics courses, participants in translational genomics studies and life-science professionals. Using those responses, we will perform a detailed psychometric analysis and calibration of the item bank using item response theory, preliminarily validate measure performance and perform simulations to test the suitability of computer adaptive testing in this domain. The item bank we develop and analyses we perform in this project will inform the development of a new, robust and valid genomics literacy measure to assess population genomic literacy and evaluate the pedagogical effectiveness of genomics educational interventions.

Public Health Relevance

Achieving some degree of genomic literacy by healthcare providers and consumers is a prerequisite to the effective application of genomic testing. This project will develop a measure to assess genomic literacy that is reliable across diverse groups of examinees. This tool will enable the rigorous measurement of population genomic literacy and the evaluation of educational programs designed to improve genomic literacy.

National Institute of Health (NIH)
National Human Genome Research Institute (NHGRI)
Small Research Grants (R03)
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Special Emphasis Panel (ZRG1)
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Boyer, Joy
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Icahn School of Medicine at Mount Sinai
Schools of Medicine
New York
United States
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Linderman, Michael D; Sanderson, Saskia C; Bashir, Ali et al. (2018) Impacts of incorporating personal genome sequencing into graduate genomics education: a longitudinal study over three course years. BMC Med Genomics 11:5
Linderman, Michael D; Nielsen, Daiva E; Green, Robert C (2016) Personal Genome Sequencing in Ostensibly Healthy Individuals and the PeopleSeq Consortium. J Pers Med 6: