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Updated: Jul 19, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Perspectives on development of a combination pharmacogenomic diagnostic and drug product
1Perlegen Sciences, Inc., 2021 Stierlin Court, Mountain View, CA 94043, USA. Mark_McCamish@perlegen.com
Abstract:
This perspective outlines the challenges to joint development of a predictive genetic diagnostic with a drug to enhance the efficacy or safety of therapy with the targeted drug. Joint development requires a discovery approach to identify the genetic marker(s), followed by a replication or validation process confirming the clinical utility of the genetic marker(s) in predicting response to the targeted drug. The promise of overcoming these hurdles is that combined use of the genetic diagnostic linked to the drug provides additional scientific information to assist the clinician in their choice of therapeutic interventions on a patient-by-patient basis.
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