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Updated: Feb 23, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

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Comprehensive genomic profiling in routine clinical practice leads to a low rate of benefit from genotype-directed

Talal Hilal1, Mary Nakazawa2, Jacob Hodskins3

  • 1Division of Hematology and Medical Oncology, Mayo Clinic, Phoenix, AZ, USA.

BMC Cancer
|September 1, 2017
PubMed
Abstract

Insights

Comprehensive genomic profiling (CGP) identified genotype-directed therapy (GDT) options for most refractory cancer patients. However, significant barriers limited GDT uptake and benefit, with only a small fraction experiencing positive outcomes.

Area of Science:

  • Oncology
  • Genomics
  • Precision Medicine

Background:

  • Real-world experience with comprehensive genomic profiling (CGP) in refractory malignancies.
  • Investigating genotype-directed therapy (GDT) for advanced cancers.

Purpose of the Study:

  • Evaluate the utility of CGP in identifying GDT options.
  • Determine the proportion of patients benefiting from GDT.
  • Identify barriers to GDT access and utilization.

Main Methods:

  • Retrospective analysis of 125 adult and pediatric patients undergoing CGP.
  • Inclusion criteria: histologically confirmed malignancy, CGP by CLIA-certified lab (Nov 2012-Dec 2015).
  • Oncologist-driven decision for CGP to explore therapeutic avenues.

Main Results:

  • 92% of patients had actionable genomic alterations identified via CGP.
  • 12% of patients received GDT, including referrals to phase 1 clinical trials.
  • Only 2% of patients derived clinical benefit (2-6 months stable disease) from GDT.

Conclusions:

  • CGP successfully identified potential GDT options for the majority of profiled patients.
  • Significant barriers impede GDT implementation and patient benefit.
  • A small minority of patients ultimately benefited clinically from GDT.
Keywords:
Cancer therapeuticsGenomicsGenotype-directed therapyProfiling

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