Evaluation of the implementation of a novel pharmacogenetics panel test in the Helsinki and Uusimaa Hospital District (HUS)
Sjöblom, Ann-Sophie (2023)
2023
Julkaisu on tekijänoikeussäännösten alainen. Teosta voi lukea ja tulostaa henkilökohtaista käyttöä varten. Käyttö kaupallisiin tarkoituksiin on kielletty.
Julkaisun pysyvä osoite on
https://urn.fi/URN:NBN:fi-fe2023051544540
https://urn.fi/URN:NBN:fi-fe2023051544540
Tiivistelmä
Interindividual differences in how we respond to drugs can make it difficult to fully achieve rational pharmacotherapy. Genetic variation, together with other factors, dictates the dose response and the profile of adverse drug reactions of a drug in a patient. It is possible to genotype patients in order to draw conclusions about their genetics and thereby adjust their medication accordingly. HUSLAB introduced a pharmacogenetics panel test at the beginning of 2022. The panel test includes 12 of the most common pharmacogenes with clinical impact, and their genetic variants.
The aim of this Master’s Thesis was to evaluate the implementation of the new pharmacogenetics panel test at the Hospital District of Helsinki and Uusimaa (HUS). I looked at a sample of tests performed at HUSLAB during a six-month period in 2022 and compared it to the corresponding six-month period of the previous year. The study compared the frequencies of clinically actionable genotypes and phenotypes by assessing the gene variants and alleles, genotypes, and genotype-predicted phenotypes. Additionally, the number of performed tests and the sending units were compared.
The study was conducted as a descriptive retrospective registry study. The pharmacogenetics panel test results from 1st of February 2022 to 31st of July 2022 and the single-gene test results from 1st of February 2021 to 31st of July 2021 served as research material. The phenotype frequencies were compared between the two study periods and are presented with 95% confidence intervals.
The genotype-predicted phenotype was refined for five of the tested genes by the implementation of the panel test due to more gene variants being analyzed in the panel test. The impact of the refined phenotype is better quality data for clinical decision making based on the pharmacogenetic test results. The total quantity of tests performed during the two review periods showed that the pharmacogenetic testing coverage has increased significantly since the implementation of the panel test. Oncology was the specialty area with the most referrals to the pharmacogenetic tests. Psychiatry and gastroenterology had increased their interest in pharmacogenetic testing during the panel test review period. Overall, this thesis project showed that the implementation of a novel pharmacogenetics panel test at HUS has been successful. In the light of the literature, it is likely that it can offer some cost savings for healthcare in the long term.
The aim of this Master’s Thesis was to evaluate the implementation of the new pharmacogenetics panel test at the Hospital District of Helsinki and Uusimaa (HUS). I looked at a sample of tests performed at HUSLAB during a six-month period in 2022 and compared it to the corresponding six-month period of the previous year. The study compared the frequencies of clinically actionable genotypes and phenotypes by assessing the gene variants and alleles, genotypes, and genotype-predicted phenotypes. Additionally, the number of performed tests and the sending units were compared.
The study was conducted as a descriptive retrospective registry study. The pharmacogenetics panel test results from 1st of February 2022 to 31st of July 2022 and the single-gene test results from 1st of February 2021 to 31st of July 2021 served as research material. The phenotype frequencies were compared between the two study periods and are presented with 95% confidence intervals.
The genotype-predicted phenotype was refined for five of the tested genes by the implementation of the panel test due to more gene variants being analyzed in the panel test. The impact of the refined phenotype is better quality data for clinical decision making based on the pharmacogenetic test results. The total quantity of tests performed during the two review periods showed that the pharmacogenetic testing coverage has increased significantly since the implementation of the panel test. Oncology was the specialty area with the most referrals to the pharmacogenetic tests. Psychiatry and gastroenterology had increased their interest in pharmacogenetic testing during the panel test review period. Overall, this thesis project showed that the implementation of a novel pharmacogenetics panel test at HUS has been successful. In the light of the literature, it is likely that it can offer some cost savings for healthcare in the long term.