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A genomics publication hat trick

For the third year in a row, a paper co-authored by assistant in biostatistics and director of informatics software development Shawn Garbett has been identified as one of the year's most significant publications in genomic medicine implementation. The Genomic Medicine Working Group of the National Advisory Council for Human Genome Research of the National Human Genome Research Institute (NHGRI) named "Population genomic screening for three common hereditary conditions: A cost-effectiveness analysis" one of 2023's ten key advances in its annual literature review. Professor Jonathan Schildcrout contributed to the article's conception, design, and revision, as well as statistical expertise. The study is discussed further in a feature by the Department of Health Policy

In 2022, Garbett and his colleagues were commended for "Cost-effectiveness of population-wide genomic screening for Lynch syndrome in the United States." In 2021, the working group highlighted "Cost-effectiveness of population-wide genomic screening for hereditary breast and ovarian cancer in the United States" as one of the year's most noteworthy studies.

Figure 1. Conceptual diagram of decision analytic model structure showing identification of a variant, receipt of recommended interventions, and clinical eventsFigure 1. Conceptual diagram of decision analytic model structure, showing identification of a variant, receipt of recommended interventions, and clinical events. In "Population genomic screening for three common hereditary conditions: A cost-effectiveness analysis" (Annals of Internal Medicine 2023).

Garbett and Schildcrout are faculty biostatisticians on projects with the Vanderbilt Biostatistics Data Coordinating Center.