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Updated: Nov 11, 2025

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Genetic counseling for patients with positive genomic screening results: Considerations for when the genetic test
Marci L B Schwartz1, Adam H Buchanan1, Miranda L G Hallquist1
1Genomic Medicine Institute, Geisinger, Danville, PA, USA.
Abstract:
Emerging genetic testing delivery models have enabled individuals to receive testing without a medical indication. This article will highlight key considerations for patient care in the setting of adult patients with positive results for monogenic disease identified through genomic screening. Suggestions for how to adapt genetic counseling to a genomic screening population will encompass topics such as phenotyping, risk assessments, and the use of existing guidelines and resources. Case examples will demonstrate principles of genotype-first patient care.
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