Research methods in genetic counseling: Statistical approaches and resources
Related Experiment Video
Updated: May 9, 2025

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Benjamin M Helm1, Leah Wetherill1
1Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, USA.
Abstract:
The continuing evolution of the genetic counseling profession necessitates an ongoing reflection on the perceived validity and role of our research in the larger systems we operate in. Despite our need for an analytically inclined professional culture and decision-making process, many genetic counselors may not have the training or support needed to ensure such rigor. In this special issue of the Journal of Genetic Counseling, authors were tasked with providing methodological foundations for genetic counselors navigating various phases of research, to improve the quality of our research output and to incorporate our findings into decision-making in healthcare and non-healthcare settings. In this manuscript, we describe various statistical approaches in lay terms and provide resources for genetic counselors new and seasoned alike. We hope to ease some of the trepidation in applying statistical approaches to genetic counseling research and provide resources to increase the analytical confidence of our workforce. This can increase the validity of the analyses and findings disseminated within and beyond our profession. First, we review some history and foundations of statistical practices that inform study design, sampling, data collection, analysis, and interpretation. Next, we highlight how different study designs inform the choice of data analysis and provide resources for statistical strategy choice. Finally, we provide resources on how to interpret statistical test results, recommend best practices, and highlight common but avoidable misconceptions in statistical interpretation. We hope this review provides a framework for novices in quantitative methodology and provides the language needed to collaborate with analytical/statistical colleagues.
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