Does Transfusion of Red Blood Cells Impact Germline Genetic Test Results?

Purpose: molecular testing is often indicated for recently transfused patients. However, there are no guidelines regarding the potential interference from donor DNA or whether it is necessary to wait for a period of time post-transfusion prior to genetic testing. While the majority of patients are t...

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Main Authors: Maggie A. DiGuardo, Sarah J. Kester, Victor J. Mahaffey, Scott A. Hammel, Katelyn K. Heaser, Christopher D. Hofich, Craig D. Tauscher, Sarah E. Kerr, Jennifer L. Oliveira, Eapen K. Jacob, Ann M. Moyer
Format: Article
Language:English
Published: MDPI AG 2020-12-01
Series:Journal of Personalized Medicine
Subjects:
Online Access:https://www.mdpi.com/2075-4426/10/4/268
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author Maggie A. DiGuardo
Sarah J. Kester
Victor J. Mahaffey
Scott A. Hammel
Katelyn K. Heaser
Christopher D. Hofich
Craig D. Tauscher
Sarah E. Kerr
Jennifer L. Oliveira
Eapen K. Jacob
Ann M. Moyer
author_facet Maggie A. DiGuardo
Sarah J. Kester
Victor J. Mahaffey
Scott A. Hammel
Katelyn K. Heaser
Christopher D. Hofich
Craig D. Tauscher
Sarah E. Kerr
Jennifer L. Oliveira
Eapen K. Jacob
Ann M. Moyer
author_sort Maggie A. DiGuardo
collection DOAJ
description Purpose: molecular testing is often indicated for recently transfused patients. However, there are no guidelines regarding the potential interference from donor DNA or whether it is necessary to wait for a period of time post-transfusion prior to genetic testing. While the majority of patients are transfused in the non-trauma setting using leukoreduced (LR) red blood cell products, the degree of leukoreduction varies among centers and is not universally practiced. Methods: whole blood units collected from anonymous donors were used in an in vitro transfusion model. One unit was split: half being leukoreduced simulating a leukopenic recipient and half left untreated. Donors were simulated by leukoreduced, partially leukoreduced (PLR), or non-leukoreduced units, transfused in 2, 5, or 16 unit equivalents. DNA from the combinations were subjected to short tandem repeat (STR) analysis for chimerism detection. Results: donor DNA was not detectable in any of the LR combinations, but detected in the PLR combinations, ranging from 0.1 to 1.5% donor DNA in the immunocompetent recipient and 6.3–27.8% in the leukopenic recipient. Non-LR donor DNA was also detected (13–95%). Conclusion: donor-derived DNA from leukoreduced blood products is unlikely to interfere with the interpretation of germline genetic testing in immunocompetent recipients but may interfere in immunocompromised recipients.
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spelling doaj.art-f8bcbe3e1e574b73a158d32d52e460a62023-11-20T23:58:02ZengMDPI AGJournal of Personalized Medicine2075-44262020-12-0110426810.3390/jpm10040268Does Transfusion of Red Blood Cells Impact Germline Genetic Test Results?Maggie A. DiGuardo0Sarah J. Kester1Victor J. Mahaffey2Scott A. Hammel3Katelyn K. Heaser4Christopher D. Hofich5Craig D. Tauscher6Sarah E. Kerr7Jennifer L. Oliveira8Eapen K. Jacob9Ann M. Moyer10Division of Transfusion Medicine, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USADivision of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USADivision of Hematopathology, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USADivision of Transfusion Medicine, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USADivision of Transfusion Medicine, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USADivision of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USADivision of Transfusion Medicine, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USAHospital Pathology Associates, Minneapolis, MN 55407, USADivision of Hematopathology, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USADivision of Transfusion Medicine, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USADivision of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USAPurpose: molecular testing is often indicated for recently transfused patients. However, there are no guidelines regarding the potential interference from donor DNA or whether it is necessary to wait for a period of time post-transfusion prior to genetic testing. While the majority of patients are transfused in the non-trauma setting using leukoreduced (LR) red blood cell products, the degree of leukoreduction varies among centers and is not universally practiced. Methods: whole blood units collected from anonymous donors were used in an in vitro transfusion model. One unit was split: half being leukoreduced simulating a leukopenic recipient and half left untreated. Donors were simulated by leukoreduced, partially leukoreduced (PLR), or non-leukoreduced units, transfused in 2, 5, or 16 unit equivalents. DNA from the combinations were subjected to short tandem repeat (STR) analysis for chimerism detection. Results: donor DNA was not detectable in any of the LR combinations, but detected in the PLR combinations, ranging from 0.1 to 1.5% donor DNA in the immunocompetent recipient and 6.3–27.8% in the leukopenic recipient. Non-LR donor DNA was also detected (13–95%). Conclusion: donor-derived DNA from leukoreduced blood products is unlikely to interfere with the interpretation of germline genetic testing in immunocompetent recipients but may interfere in immunocompromised recipients.https://www.mdpi.com/2075-4426/10/4/268transfusiongenetic testingleukoreductiontransfusion-associated microchimerisminterference
spellingShingle Maggie A. DiGuardo
Sarah J. Kester
Victor J. Mahaffey
Scott A. Hammel
Katelyn K. Heaser
Christopher D. Hofich
Craig D. Tauscher
Sarah E. Kerr
Jennifer L. Oliveira
Eapen K. Jacob
Ann M. Moyer
Does Transfusion of Red Blood Cells Impact Germline Genetic Test Results?
Journal of Personalized Medicine
transfusion
genetic testing
leukoreduction
transfusion-associated microchimerism
interference
title Does Transfusion of Red Blood Cells Impact Germline Genetic Test Results?
title_full Does Transfusion of Red Blood Cells Impact Germline Genetic Test Results?
title_fullStr Does Transfusion of Red Blood Cells Impact Germline Genetic Test Results?
title_full_unstemmed Does Transfusion of Red Blood Cells Impact Germline Genetic Test Results?
title_short Does Transfusion of Red Blood Cells Impact Germline Genetic Test Results?
title_sort does transfusion of red blood cells impact germline genetic test results
topic transfusion
genetic testing
leukoreduction
transfusion-associated microchimerism
interference
url https://www.mdpi.com/2075-4426/10/4/268
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