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Updated: Jan 6, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Genetic Counseling, Personalized Medicine, and Precision Health
1Director, Clinical and Product Development, Geisinger National Precision Health, Geisinger Health System, North Bethesda, Maryland 20852, USA.
Abstract:
Millions of individuals in the United States will have their exomes and genomes sequenced over the next 5 years as the use of genomic sequencing technologies in clinical care grows and as initiatives in personalized medicine and precision health move forward. As a result, we will see a shift away from the patient population of early adopters who pursued direct-to-consumer (DTC) testing and paid thousands of dollars to get their genomes sequenced and toward a different and more diverse set of test takers. Early data suggest that these individuals will have different motivations for pursuing genomic sequencing and will be less knowledgeable about and less confident of the benefits of genetic testing. To serve this growing population, genetic counselors must understand our future patients as well as the changing landscape of genomic testing, DTC offerings, and population sequencing initiatives.
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