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Recommendations for (Pharmaco)Genetic Sampling in Patients Following Allogeneic Hematopoietic Stem Cell
Anniek Bokma1,2, Maja Matic3, Arwin Ralf4
1Department of Internal Medicine, Division of Vascular Medicine and Pharmacology, Erasmus MC University Medical Center, Rotterdam, the Netherlands.
Clinical and Translational Science
|August 13, 2025
Summary
Pharmacogenetic profiling after allogenic hematopoietic stem cell transplantation (aHSCT) requires careful sample selection. Pre-transplant peripheral blood is preferred over buccal swabs due to donor DNA contamination, with hair follicles being a reliable alternative.
Area of Science:
- Pharmacogenomics
- Hematopoietic Stem Cell Transplantation
- Clinical Genetics
Background:
- Achieving complete chimerism is a goal in allogenic hematopoietic stem cell transplantation (aHSCT).
- Assessing recipient germline DNA non-invasively after aHSCT presents a significant challenge for genetic testing.
- Pharmacogenetic analysis is crucial for personalized medicine, but its application post-aHSCT needs careful consideration.
Purpose of the Study:
- To raise awareness regarding appropriate (pharmaco)genetic sampling strategies in patients following aHSCT.
- To evaluate the reliability of different DNA sources (peripheral blood, buccal swab, hair follicles) for pharmacogenetic analysis post-aHSCT.
- To highlight potential issues with donor DNA contamination in post-transplant samples.
Main Methods:
- Pharmacogenetic analysis of six key genes was performed on DNA from peripheral blood (pre- and post-transplant), buccal swabs, and hair follicles.
- Short tandem repeat (STR) and digital droplet PCR were used to quantify donor DNA in post-transplant samples.
- Genotyping was compared across different sample types and time points (pre- vs. post-transplant).
Main Results:
- Post-transplant peripheral blood and buccal swab DNA yielded identical pharmacogenetic genotypes, but buccal swabs contained approximately 63% donor DNA.
- Pre-transplant peripheral blood showed different genotypes for CYP2D6 and SLCO1B1 compared to post-transplant samples.
- Hair follicles contained 0% donor DNA and provided reliable genotyping for analyzed genes, though DNA yield was limited.
Conclusions:
- Pharmacogenetic profiling after aHSCT necessitates careful sample selection to avoid donor DNA interference.
- Pre-transplant peripheral blood is a preferred source over buccal swabs due to the absence of donor DNA.
- Hair follicles offer a reliable alternative for pharmacogenetic analysis, provided sufficient DNA can be extracted.
