Establishment of a Pharmacogenetics Service Focused on Optimizing Existing Pharmacogenetic Testing at a Large Academic Health Center
Abstract
:1. Introduction
2. Materials and Methods
3. Results
3.1. Retrospective Chart Review
3.1.1. Duplicate Test Results
3.1.2. Pharmacogenetic Problem List Entries
3.2. Clinical Services
4. Discussion
5. Conclusions
Author Contributions
Funding
Acknowledgments
Conflicts of Interest
References
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Test | N (%) | Laboratory | Order Process | Result Location | Result Format |
---|---|---|---|---|---|
TPMT enzyme assay | 2694 (42.7) | External | Discrete | EMR Results | Text |
G6PD activity | 2122 (33.7) | Internal | Discrete | EMR Results | Discrete |
HLA-B*57:01 | 579 (9.2) | Internal | Discrete | EMR Results | Text |
TPMT Genotype | 496 (7.9) | External | Discrete | EMR Results | Text |
Genesight® | 200 (3.2) | External | External | Clinical Note/Media | NA |
UGT1A1 Genotype | 178 (2.8) | Internal | Discrete | EMR Results | Text |
IL28B Genotype | 15 (0.2) | External | Discrete | EMR Results | Discrete |
HLA-B*15:02 | 5 (0.08) | Internal | Discrete | EMR Results | Text |
DPYD Genotype | 5 (0.08) | External | Non-discrete | EMR Results | Text |
CYP2D6 Genotype | 4 (0.06) | External | Non-discrete | EMR Results | Text |
CYP2C9/VKORC1 genotype | 2 (0.03) | External | Non-discrete | EMR Results | Text |
HLA-B*58:01 | 1 (0.02) | External | Non-discrete | EMR Results | Text |
Drug metabolizing enzyme panel | 1 (0.02) | External | Non-discrete | EMR Results | Text |
Gene | Problem List Entry | N |
---|---|---|
TPMT | Intermediate TPMT activity | 33 |
TPMT intermediate metabolizer | 1 | |
Poor metabolizer of azathioprine | 1 | |
Thiopurine methytransferase deficiency | 1 | |
RYR1 | Monoallelic mutation of RYR1 | 14 |
Biallelic mutation of RYR1 | 2 | |
CYP2D6 | CYP2D6 deficiency | 2 |
Cytochrome p450 2D6 enzyme deficiency | 2 | |
Poor drug metabolizer due to cytochrome p450 CYP2D6 variant | 2 | |
DPD | DPD Deficiency | 6 |
CYP2C9 | Monoallelic mutation of CYP2C9 gene | 1 |
CYP2C9 deficiency | 2 | |
CYP3A4 | Ultra-rapid metabolizer associated with CYP3A4 | 2 |
Cytochrome p450 3A4 enzyme deficiency | 1 | |
CACN1S | Monoallelic mutation in CACN1S | 2 |
CYP1A2 | CYP1A2 gene mutation | 2 |
CYP2C19 | CYP2C19 intermediate metabolizer | 1 |
Cytochrome p450 2C19 enzyme deficiency | 1 | |
CYP mutation | CYP gene mutation – unknown type | 1 |
Mutation of liver cytochrome that can lead to impaired drug metabolism | 1 | |
MTHFR | Biallelic mutation of MTHFR gene | 1 |
CYP2B6 | CYP2B6 intermediate metabolizer | 1 |
CYP3A5 | CYP3A5 gene mutation | 1 |
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Pasternak, A.L.; Ward, K.M.; Ateya, M.B.; Choe, H.M.; Thompson, A.N.; Clark, J.S.; Ellingrod, V. Establishment of a Pharmacogenetics Service Focused on Optimizing Existing Pharmacogenetic Testing at a Large Academic Health Center. J. Pers. Med. 2020, 10, 154. https://doi.org/10.3390/jpm10040154
Pasternak AL, Ward KM, Ateya MB, Choe HM, Thompson AN, Clark JS, Ellingrod V. Establishment of a Pharmacogenetics Service Focused on Optimizing Existing Pharmacogenetic Testing at a Large Academic Health Center. Journal of Personalized Medicine. 2020; 10(4):154. https://doi.org/10.3390/jpm10040154
Chicago/Turabian StylePasternak, Amy L., Kristen M. Ward, Mohammad B. Ateya, Hae Mi Choe, Amy N. Thompson, John S. Clark, and Vicki Ellingrod. 2020. "Establishment of a Pharmacogenetics Service Focused on Optimizing Existing Pharmacogenetic Testing at a Large Academic Health Center" Journal of Personalized Medicine 10, no. 4: 154. https://doi.org/10.3390/jpm10040154