Integrating Pharmacogenomics into Pediatric Palliative Care

Key Message: Pharmacogenomics, how genetic variations impact medication response, can enhance the personalized medicine approach, especially in palliative care. Despite a lack of clinical pharmacogenomic research in pediatric palliative care, a clinical case illustrates how pharmacogenomic insights and inter-professional collaboration can enhance medication management and highlight the need for expanded pharmacogenomic services.

Abstract:

Background: Pharmacogenomics (PGx) is the study of genetic variations that influence medication outcomes. This emerging field of medicine presents opportunities for enhancing personalized medicine and improving the medication experience for patients. The Clinical Pharmacogenetics Implementation Consortium (CPIC®) has published national, peer-reviewed, evidence-based practice guidelines that cover a wide range of genes and medications commonly used in palliative care, including treatments for pain (1, 2), gastrointestinal issues (3, 4), and mental health conditions (5). A scoping review of PGx in adult palliative medicine showed that this approach can help clinicians optimize supportive care medications and that PGx testing is feasible for patients in palliative care (6). However, there is currently limited published evidence demonstrating that PGx conclusively improves clinical outcomes in this setting (6). Furthermore, there is even less published information regarding its application in pediatric palliative care.

Objective/

Purpose: Our goal is to describe how PGx can be utilized to enhance the care of complex pediatric palliative care patients.

Approach: We will present a clinical case involving a patient whose PGx testing revealed multiple findings that guided our medication management. Our Palliative Care Provider collaborated closely with our PGx Specialist to select and adjust medications effectively.

Implications: PGx influenced our decisions regarding opioid management for progressive cancer pain, the use of proton pump inhibitors, the selection of antidepressants, and the choice of adjuvant medications for neuropathic pain. Additionally, inter-professional collaboration helped identify a drug-drug-gene interaction that was contributing to the patient’s hypotension, leading to adjustments in medication to alleviate ongoing symptoms. This case example aims to demonstrate how PGx results and collaboration among healthcare professionals can positively impact pediatric patients in palliative care. Expanding collaborative PGx services across health systems would create opportunities for greater collective research to demonstrate the broader utility and clinical benefits of PGx in pediatric palliative care.

References: 1. Theken KN, Lee CR, Gong L, et al. Clinical Pharmacogenetics Implementation Consortium Guideline (CPIC) for CYP2C9 and Nonsteroidal Anti-Inflammatory Drugs. Clin Pharmacol Ther. 2020;108(2):191-200.

2. Crews KR, Monte AA, Huddart R, et al. Clinical Pharmacogenetics Implementation Consortium Guideline for CYP2D6, OPRM1, and COMT Genotypes and Select Opioid Therapy. Clin Pharmacol Ther. 2021;110(4):888-96.

3. Lima JJ, Thomas CD, Barbarino J, et al. Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2C19 and Proton Pump Inhibitor Dosing. Clin Pharmacol Ther. 2021;109(6):1417-23.

4. Bell GC, Caudle KE, Whirl-Carrillo M, et al. Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline for CYP2D6 genotype and use of ondansetron and tropisetron. Clin Pharmacol Ther. 2017;102(2):213-8.

5. Bousman CA, Stevenson JM, Ramsey LB, et al. Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2D6, CYP2C19, CYP2B6, SLC6A4, and HTR2A Genotypes and Serotonin Reuptake Inhibitor Antidepressants. Clin Pharmacol Ther. 2023;114(1):51-68.

6. Barry C, Patel M. Pharmacogenomics and symptom management in palliative and supportive care: A scoping review. BMJ Support Palliat Care. 2025;15(2):158-67.