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Updated: Aug 19, 2025

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
North American genetic counselors' approach to collecting and using ancestry in clinical practice
Alexandra Hubbel1, Elizabeth Hogan1,2, Anne Matthews1
1Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, Ohio, USA.
Abstract:
Current guidelines from the National Society of Genetic Counselors (NSGC) recommend that patients' ancestry be obtained when taking a family history. However, no study has explored how consistently genetic counselors obtain or utilize this information. The goals of this study included assessing how genetic counselors collect their patients' ancestry, what factors influence this decision, and how they view the utility of this information. Genetic counselors working in a direct patient care setting in the US or Canada were recruited to participate in an anonymous survey via an NSGC email blast. Most participants (n = 115) obtain information about their patients' ancestry (96.5%), with the most common methods being directly asking the patient (91%) and utilizing intake forms (43.2%). Of participants who ask about ancestry directly, 50.5% always ask about the presence of Ashkenazi Jewish ancestry and 70.3% always ask about additional ancestries, suggesting that for most genetic counselors' collection of ancestry is standard practice. However, the clinical utility of ancestry information is highly variable, with the impact on genetic testing choice being particularly low. A slight majority of participants support a reevaluation of current ancestry guidelines (51.3%), with many participants suggesting that the varying utility of ancestry in different clinical indications/specialties should be incorporated into guidelines. Despite being standard practice for most genetic counselors, no unified approach or standard for how ancestral information should be used in genetic counseling practice was identified.
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