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Generation of Human Nasal Epithelial Cell Spheroids for Individualized Cystic Fibrosis Transmembrane Conductance Regulator Study
Published on: April 11, 2018
Opportunity for pharmacogenomic testing in patients with cystic fibrosis
Colleen Sakon1, Leah A Alicea2, Heather Patacca2
1Pharmacy Department, Indiana University Health, Indianapolis, Indiana, USA.
Background:
Patients with cystic fibrosis (CF) are exposed to many drugs in their lifetime and many of these drugs have Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines that are available to guide dosing. Contemporary CF treatments are targeted to specific mutations in the CF transmembrane conductance regulator (CFTR) gene, and thus, require patients to have genetic testing before initiation of modulator therapy. However, aside from CFTR genetic testing, pharmacogenomic testing is not standard of care for CF patients.
Aim:
The aim of this study is to determine the number of non-CFTR modulator medications with CPIC guidelines that are prescribed to patients with CF.
Materials & Methods:
We identified all patients with a diagnosis of CF and queried our hospital electronic medical records (EMR) for all orders, including inpatient and prescriptions, for all drugs or drug classes that have CPIC actionable guidelines for drug-gene pairs that can be used to guide therapy.
Results:
We identified 576 patients with a diagnosis of CF that were treated at our institution during this 16-year period between June 2005 and May 2021. Of these patients, 504 patients (87.5%) received at least one drug that could have been dosed according to CPIC guidelines if pharmacogenomic results would have been available.
Conclusions:
Patients with CF have high utilization of drugs with CPIC guidelines, therefore preemptive pharmacogenomic testing should be considered in CF patients at the time of CFTR genetic testing.
Insights
Cystic fibrosis (CF) patients frequently receive medications with available pharmacogenetic dosing guidelines. Preemptive genetic testing could optimize drug therapy for these individuals.
Area of Science:
- Pharmacogenomics
- Clinical Pharmacy
- Genetic Medicine
Background:
- Patients with cystic fibrosis (CF) are prescribed numerous medications throughout their lives.
- Many of these drugs have Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines to aid in dosing.
- While CFTR gene testing is standard for modulator therapy, broader pharmacogenomic testing is not.
Purpose of the Study:
- To quantify the use of non-CFTR modulator medications with CPIC guidelines in CF patients.
- To assess the potential impact of pharmacogenomic testing on drug management in CF.
Main Methods:
- Retrospective review of electronic medical records (EMR) for CF patients.
- Identification of drug orders with CPIC actionable guidelines for drug-gene pairs.
Main Results:
- A total of 576 CF patients were analyzed between June 2005 and May 2021.
- A significant majority, 87.5% (504 patients), received at least one medication with available CPIC dosing guidelines.
- This highlights a substantial opportunity for pharmacogenomic testing to inform treatment.
Conclusions:
- CF patients exhibit high utilization of drugs with CPIC guidelines.
- Implementing preemptive pharmacogenomic testing alongside CFTR genetic testing is recommended.
- This approach could enhance personalized medicine and optimize drug therapy in CF care.
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