Abstract
Background
In Switzerland, consumers are exposed to drugs with pharmacogenetic (PGx) recommendations in 78% of cases. Pre-emptive PGx testing for seven drugs (abacavir, carbamazepine, 6-mercaptopurine, azathioprine, 5-fluorouracil, capecitabine, and irinotecan) has been covered by basic health insurance since 2017. PGx testing for other drugs is only covered if it is reactive and prescribed by a clinical pharmacologist. No data are yet available on the implementation of PGx testing in the outpatient setting.
Aim
The objective of this study was to determine the prevalence of ambulatory PGx testing in the Swiss population, to characterize PGx-tested individuals, and to identify the most commonly used drugs before and after PGx testing.
Methods
We assessed the prevalence of PGx testing in Switzerland and characterized individuals who underwent PGx testing between 2017 and 2021 using claims data from a large health insurance company.
Results
Of 894,748 individuals registered for the entire study period, only 817 (0.09%) underwent PGx testing. Those who underwent PGx testing were more frequently female and claimed more drugs and PGx drugs than those who did not undergo PGx testing. The drugs used before and after PGx testing differed, and fewer drugs with reimbursement for pre-emptive PGx testing were included before PGx testing.
Conclusion
In Switzerland, personalized pharmacotherapy has the potential to be improved, as only 0.09% of the studied population underwent PGx testing, despite 77.4% claiming PGx drugs.
Supplementary Information
The online version contains supplementary material available at 10.1007/s40264-025-01522-z.
Key Points
| No data are yet available on the prevalence of ambulatory pharmacogenetic (PGx) testing in Switzerland. |
| During a 5-year period, 0.09% of the study population underwent PGx testing in Switzerland. |
| People who underwent PGx testing were more frequently female, were older, and claimed more different drugs. |
Introduction
Drug–gene interactions (DGIs) have the potential to alter the response to drug therapy by influencing pharmacodynamics or pharmacokinetics, potentially leading to treatment failure or toxicity [1, 2]. Therefore, the aim of pharmacogenomics is to enable more personalized therapies and to enhance an individual’s treatment response through safer and more effective pharmacotherapy [3]. Clinically actionable gene variants are frequent, affecting 91.0–99.8% of the investigated populations [4–8]. Actionable variants are defined as phenotypes where a dosage change or a therapeutic change to another drug is recommended. Studies from Denmark, the Netherlands, and the UK have shown that up to 25% of the population may benefit from pre-emptive pharmacogenetic (PGx) testing due to exposure to clinically actionable DGIs [8–12].
PGx testing can be performed pre-emptively or reactively. Pre-emptive testing can guide prescribing to prevent adverse drug reactions (ADRs) or treatment failure [13]. Conversely, reactive PGx testing is applied diagnostically when drug responses are insufficient or ADRs have occurred [14]. PGx testing has been reported to reduce the occurrence of ADRs, leading to fewer hospitalisations, and to enhance the response to drug therapies [15–19]. Barriers to implementing PGx testing include a lack of knowledge about PGx, a lack of PGx recommendations, and a lack of reimbursement for PGx testing [20]. In 2017, progress was made in Switzerland with the approval of reimbursement for PGx testing [21]. Swiss health insurance companies are privately owned, but the Federal Office of Public Health determines which therapies basic health insurance must cover [21, 22]. All Swiss residents are required to have basic healthcare insurance [23]. PGx testing is reimbursed if it is reactive and prescribed by a physician specializing in clinical pharmacology and toxicology [21]. Pre-emptive PGx tests are covered by basic healthcare insurance only when a drug therapy involves abacavir (human leukocyte antigen [HLA]-B*5701), carbamazepine (HLA-A*3101 and HLA-B*1502), 6-mercaptopurine and azathioprine (TPMT), 5-fluorouracil and capecitabine (DPYD), and irinotecan (UGT1A1*28) [21, 24]. Furthermore, the coverage is limited to single-gene testing [21].
A study in 2022 found that the prevalence of PGx drug prescription was high in the Swiss population. It is estimated that 78% of Swiss drug consumers are exposed to PGx drugs. In this study, PGx drugs were defined as substances with dosing guidelines and recommendations available on the Pharmacogenetic Knowledgebase (PharmGKB) [25]. No data are yet available on the prevalence of PGx testing in Switzerland, except on DPYD testing in the inpatient setting [26], so whether PGx testing is implemented in the Swiss outpatient setting remains unclear. Therefore, this study aimed to assess the prevalence of ambulatory PGx testing in the Swiss population, to characterize PGx-tested individuals, and to identify the most frequently used drugs before and after PGx testing.
Methods
We conducted a retrospective descriptive study using claims data from the Helsana Group, which is a large Swiss health insurance provider that insures approximately 15% of the Swiss population across all 26 cantons. The Helsana database is nearly representative of the Swiss population. In 2024, basic/mandatory insured people at Helsana Group had a slightly higher proportion of females than the Swiss population, the percentage of Helsana insurants aged 0–19 years and >80 years was also slightly higher than the overall population percentage, and those aged 20–64 years tended to be slightly underrepresented [27]. However, several studies on drug use and safety have been performed on this database [25, 28–30]. Our dataset covered the period from 1 January 2017 to 31 December 2021 and contained information on drugs claimed in the outpatient setting, using the Anatomical Therapeutic Chemical classification system, as well as demographic information such as canton of residence, birth year and sex, and claims of PGx tests for single-gene testing. However, the dataset does not provide any information on lifestyle factors, such as smoking status or weight, sales of over-the-counter drugs, diagnoses, results of PGx tests, or whether a PGx test was conducted pre-emptively or reactively.
We identified PGx tests using the Federal Office of Public Health list of analysis codes (Table 1 in the electronic supplementary material [ESM]) [21]. PGx drugs were defined as drugs with a clinical annotation of evidence level 2b or higher on the PharmGKB [31]. A total of 111 drugs, eight drug groups, and one drug combination were identified as PGx drugs in October 2022. The PGx drug list can be found in Table 2 in the ESM.
We calculated absolute and relative numbers of PGx-tested people, their mean age, and the mean number of drugs and PGx drugs per person for the 5-year study period and for each individual year. The term “5-year period” is only used with regard to individuals who were continuously insured throughout the entire 5-year period. Additionally, we ranked PGx drugs based on the number of individuals with claims for these drugs during 30 and 90 days before or after PGx testing. If claims for drugs were issued on the day of the PGx test, the claim was counted as 30 or 90 days after the PGx test, respectively. The age of individuals was calculated at the end of each calendar year for the individual years and at the end of the year 2017 for the 5-year period.
All statistical analyses were conducted using SAS 9.4 (SAS Institute Inc., Cary, NC, USA).
Ethics approval was not required according to the Swiss federal law on data protection article 22 as the study was retrospective and the data were anonymous [32].
Results
During the study period, 1,648,988 people were registered at least once with Helsana. In total, 1536 PGx tests were reimbursed. The number of reimbursed PGx tests ranged from 252 in 2020 to 358 in 2017 (Table 1).
Table 1.
Number of annually reimbursed pharmacogenetic (PGx) tests and percentage of all reimbursed PGx tests
| 2017 | 2018 | 2019 | 2020 | 2021 | |
|---|---|---|---|---|---|
| Number of reimbursed PGx tests, N (%) | 358 (23.3) | 318 (20.7) | 253 (16.5) | 252 (16.4) | 355 (23.1) |
Throughout the 5-year period, 894,748 people were continuously insured. Of these, 817 (0.09%) claimed 1020 PGx tests. Among those who underwent PGx testing, 54.3% were female. Nearly all PGx-tested people claimed drugs and PGx drugs. Those who underwent PGx testing were older and claimed a greater number of different drugs and PGx drugs than those who did not undergo PGx testing (Table 2). The maximum number of PGx tests claimed by an individual was six. Over the 5-year period, 472 (57.8%) individuals claimed one PGx test, 295 (36.1%) claimed two, and 50 (6.1%) claimed three or more.
Table 2.
Characteristics of the study population
| Characteristics | Prescribing period | |||||
|---|---|---|---|---|---|---|
| 5-year period | 1-year period | |||||
| 2017–2021 | 2017 | 2018 | 2019 | 2020 | 2021 | |
| Number of people | ||||||
| All | 894,748 | 1,104,830 | 1,138,299 | 1,197,404 | 1,314,364 | 1,389,196 |
| Female | 468,896 (52.4) | 571,832 (51.8) | 588,324 (51.7) | 616,752 (51.5) | 673,077 (51.2) | 709,241 (51.1) |
| Male | 425,852 (47.6) | 532,998 (48.2) | 549,975 (48.3) | 580,652 (48.5) | 641,287 (48.8) | 679,955 (48.9) |
| Number of people with drug claims | ||||||
| Any drug | 850,844 (95.1) | 839,298 (76.0) | 865,943 (76.1) | 908,596 (75.9) | 968,169 (73.7) | 1,025,246 (73.8) |
| PGx drug | 692,546 (77.4) | 519,134 (47.0) | 533,569 (46.9) | 558,015 (46.6) | 566,350 (43.1) | 609,194 (43.9) |
| Number of people with PGx test | ||||||
| All | 817 (0.09) | 206 (0.02) | 197 (0.02) | 161 (0.01) | 176 (0.01) | 286 (0.02) |
| Female | 444 (54.3) | 126 (61.2) | 105 (53.3) | 98 (60.9) | 81 (46.0) | 137 (47.9) |
| Male | 373 (45.7) | 80 (38.8) | 92 (46.7) | 63 (39.1) | 95 (54.0) | 149 (52.1) |
| Number of people with PGx test and drug claims | ||||||
| Any drug | 814 (99.6) | 205 (99.5) | 196 (99.5) | 160 (99.4) | 174 (98.9) | 284 (99.3) |
| PGx drug | 797 (97.6) | 188 (91.3) | 171 (86.8) | 149 (92.5) | 156 (88.6) | 264 (92.3) |
| Age | ||||||
| People with PGx test | 50.4 ± 17.1 | 50.6 ± 15.5 | 47.1 ± 15.5 | 45.8 ± 16.8 | 49.5 ± 18.7 | 57.6 ± 17.6 |
| People without PGx test | 44.5 ± 24.0 | 44.1 ± 24.7 | 43.8 ± 24.6 | 43.3 ± 24.5 | 42.6 ± 24.2 | 42.1 ± 24.0 |
| Number of drugs per person | ||||||
| People with PGx test | 38.9 ± 21.3 | 15.7 ± 9.6 | 14.8 ± 11.3 | 15.7 ± 11.1 | 17.7 ± 11.9 | 22.5 ± 13.4 |
| People without PGx test | 19.7 ± 16.7 | 6.4 ± 7.4 | 6.4 ± 11.3 | 6.3 ± 7.3 | 5.8 ± 7.1 | 5.8 ± 7.0 |
| Number of PGx drugs per person | ||||||
| People with PGx test | 6.2 ± 3.9 | 3.2 ± 2.2 | 2.8 ± 2.3 | 3.1 ± 2.3 | 3.3 ± 2.4 | 4.0 ± 2.8 |
| People without PGx test | 2.6 ± 2.6 | 1.0 ± 1.5 | 1.0 ± 1.5 | 1.0 ± 1.5 | 0.9 ± 1.4 | 0.9 ± 1.4 |
Data are presented as N (%) or mean ± standard deviation unless otherwise indicated
N number of people; PGx pharmacogenetic; % proportion of individuals present during the observation period
In the 90 days before PGx testing over the 5-year period, the PGx drugs with the highest number of users were pantoprazole, ibuprofen, and escitalopram. In the 90 days after PGx testing during the 5-year period, the PGx drugs with the highest number of users were pantoprazole, fluorouracil, ibuprofen, and ondansetron. The most commonly used PGx drug groups were antiepileptics and 3-hydroxy-3-methylglutaryl coenzyme A reductase inhibitors in the 90 days before PGx testing. In the 90 days after PGx testing, antiepileptics and platinum compounds were the most frequently used PGx drug groups (Table 3, and Table 3 in the ESM). Similar results were obtained for the 30 days before and after PGx testing, as shown in Table 4 in the ESM.
Table 3.
Top 15 pharmacogenetic (PGx) drugs within 90 days before or after PGx testing in the 5-year period
| PGx drugs | Number (%) of people with claim, N = 817 | |
|---|---|---|
| 90 days before PGx test | 90 days after PGx test | |
| Pantoprazole | 162 (19.8) | 131 (16.0) |
| Ibuprofen | 83 (10.2) | 79 (9.7) |
| Escitalopram | 83 (10.2) | 76 (9.3) |
| Quetiapine | 66 (8.1) | 68 (8.3) |
| Aspirin | 64 (7.8) | 67 (8.2) |
| Venlafaxine | 51 (6.2) | 57 (7.0) |
| Mirtazapine | 45 (5.5) | 59 (7.2) |
| Atorvastatin | 40 (4.9) | 42 (5.1) |
| Sertraline | 33 (4.0) | 29 (3.5) |
| Oxycodone | 32 (3.9) | 24 (2.9) |
| Ondansetron | 31 (3.8) | 79 (9.7) |
| Bupropion | 30 (3.7) | 55 (6.7) |
| Tramadol | 30 (3.7) | 20 (2.4) |
| Rosuvastatin | 27 (3.3) | 29 (3.5) |
| Lamotrigine | 23 (2.8) | 21 (2.6) |
The drugs are ranked by the number of exposed people during the 90 days before PGx testing. Drug groups and drug combinations were excluded
N number of people with PGx drug claim in the 90 days before or after PGx testing; % percentage of the total number of people with a PGx test
During the 5-year period, individuals who underwent PGx testing claimed PGx drugs with reimbursement for pre-emptive PGx testing more frequently in the 90 days after PGx testing than in the 90 days before PGx testing (Fig. 1). This trend was also observed within 30 days before and after PGx testing (Figure 1 in the ESM). During the 5-year period, of 42,729 people exposed to any of the PGx drugs with reimbursement for pre-emptive PGx testing, 258 underwent PGx testing: 31.6% of all PGx-tested individuals, 0.6% of all people exposed to any of the PGx drugs with reimbursement for pre-emptive PGx testing.
Fig. 1.
Exposure to pharmacogenetic (PGx) drugs with reimbursement for pre-emptive PGx testing within 90 days before or after PGx testing in the 5-year period. %: percentage of the total number of people with a PGx test
Discussion
This study aimed to provide a deeper understanding of PGx practices in Switzerland. We describe the use of PGx tests in the outpatient setting and report that 1536 PGx tests were reimbursed between 2017 and 2021. We did not observe an increase in the number of tests over time. We observed that only 0.09% of individuals underwent PGx testing during a 5-year period, despite 77.4% being exposed to PGx drugs. Individuals who underwent PGx testing were older and received more drugs than those who did not undergo testing. Within 90 days of testing, there was an increase in the frequency of exposure to PGx drugs with reimbursement for pre-emptive PGx testing. However, only 31.6% of those who underwent PGx testing were exposed to any of the PGx drugs with reimbursement for pre-emptive PGx testing, and only 0.6% of the total exposed individuals were PGx tested.
Comparing our results with other studies is challenging because of the limited number of studies that have examined the use of PGx tests. Recent reports from Switzerland and Italy have described PGx testing for DPYD [26, 33]. However, our study examined all PGx tests conducted in the outpatient setting. Although other studies have also examined all PGx tests conducted, they only assessed data from single centres [34–37]. We found that females were more likely to undergo PGx testing. However, single-centre studies from China and Spain that analysed hospital data on PGx testing have reported that more tests were conducted on male patients [36, 37].
Begré et al. [26] reported a 14-fold increase in DPYD testing between 2017 and 2021 in a Swiss diagnostic centre, and Zhang et al. [36] observed an annual growth rate of 63.0% over a 5-year period for PGx testing in a Chinese hospital. Similarly, PGx testing in a Spanish hospital increased by approximately 35% over a period of about 6 years [37]. The percentage of patients with depression who received a PGx test in the USA nearly tripled from 0.2% in 2013 to 0.5% in 2014 [38]. In contrast to other reports, we did not observe an increase in PGx tests since 2017; in fact, the number of tests decreased during 2019 and 2020. The decrease in 2020 may be attributed to the significant reduction in doctor visits during the COVID-19 shutdowns [39], but the reason for the dip in PGx tests in 2019 remains unexplained. Although PGx testing has been reimbursed by healthcare insurance in certain circumstances since 2017 [21, 24], it evidently does not serve as a significant incentive within the outpatient setting.
A strength of our study is the use of a large health insurance claims database, which registers data from approximately 15% of the total population in Switzerland. However, it is important to note that the use of claims data has associated limitations. Information about the drugs used or PGx tests applied on inpatients is lacking, as these are billed at a case rate [40]. According to Zhang et al. [36], a larger proportion of PGx tests were conducted in the inpatient setting than in the outpatient setting of a Chinese hospital. Similarly, an Italian study investigating DPYD in a national cancer centre also found this trend [33]. Therefore, our results can only be generalized to the outpatient setting, not the entire Swiss healthcare system. Moreover, the database does not specify which pharmacogene was tested or which drug the PGx test was conducted for. It is possible that alterations in drugs may be attributable to a PGx test. Nevertheless, it is not possible to conclude definitively that the PGx test is the underlying cause of the observed alteration.
Additionally, the results of the PGx test are not recorded, and data on over-the-counter drug use are limited. As such, it was not feasible to evaluate actionable DGIs or to examine drug alterations in accordance with PGx findings. We also had no information regarding PGx tests that were conducted before the study period or funded by other sources.
In Switzerland, healthcare insurance requires an annual out-of-pocket payment before reimbursement begins. Additionally, only pre-emptive PGx tests for the seven drugs with reimbursement for PGx testing or reactive PGx tests issued by a clinical pharmacologist are covered by basic health insurance [21, 24]. Only single-gene testing is eligible for reimbursement, so other PGx tests are not registered in the Helsana database. As PGx tests for the respective genetic variant are only required once per individual, all these factors lead to an underestimation of the true PGx test frequency in the study population. Given the very low prevalence of 0.09%, the limited awareness of the Swiss population for the relevance of PGx [20, 41], and the fact that our study covers 15% of the Swiss population over a period of 5 years, we have assumed there remains huge potential for improving personalized pharmacotherapy in Switzerland. Given the low number of physicians with a specialization in clinical pharmacology and toxicology in Switzerland (<1 in 100,000 citizens), access to PGx testing might be insufficient. Since December 2022, pharmacists are entitled to initiate PGx testing without reimbursement. This might increase access to PGx testing; however, without reimbursement, this is unlikely to significantly increase testing numbers.
The definition of PGx drugs in this study was broad and included drugs with high and moderate evidence of a drug–gene association. Therefore, exposure to PGx drugs may have been overestimated. However, a 2022 study assessed the use of PGx drugs in the same database, using a stricter definition of PGx drugs as substances with dosing guidelines and recommendations available on the PharmGKB. The authors reported that, over a 5-year period, 74.7% of patients used at least one PGx drug [25]. We found the percentage of patients claiming PGx drugs to be 77.4%.
Approximately 50% of the individuals registered during the 5-year period maintained continuous insurance coverage. Compared with individuals in specific years, PGx-tested people present for the whole 5-year period had, on average, a higher number of different drugs (34.9 vs 14.8–22.5 drugs) and a higher number of PGx drugs (5.6 vs 2.8–4.0 drugs). The percentage of people with drug claims was lower during the 1-year periods (73.7–76.1%) than during the 5-year period (93.9%). Over the years, the study population has become slightly younger. Specifically, the mean age of individuals without PGx testing decreased from 44.1 years in 2017 to 42.1 years in 2021. In Switzerland, insurance companies are obligated by law to offer the same coverage for basic health insurance. Additionally, insurance companies are obligated to extend coverage to all individuals. Although basic health insurance is mandatory in Switzerland, individuals are free to choose and switch their insurance annually [23]. Consequently, some individuals do change their insurance every year to achieve cost savings, leading to the observed fluctuations. Moreover, the discrepancy in the number of average and PGx drugs between the 5-year and 1-year periods can be attributed to two factors. First, patient age increased by 5 years during the 5-year period. Second, the duration of the time periods differed. Nevertheless, the 5-year period provides a more comprehensive context for PGx testing, as patients were observed over a 5-year period, resulting in more complete data. The 1-year periods are less extensive but do facilitate inter-year comparisons and the identification of potential trends in PGx testing.
To gain a more comprehensive understanding of PGx testing in the context of the Swiss healthcare system, it is essential to analyse PGx testing in the inpatient setting. An additional effective approach to evaluate all PGx tests would be to analyse the data generated by the laboratories to evaluate the PGx tests ordered by clinicians, pharmacists, and patients themselves.
Conclusion
This is the first study to assess the use of PGx tests in the Swiss outpatient setting. The findings demonstrate a low prevalence (0.09%) of ambulatory PGx testing in the Swiss population, whereas three in four people claimed at least one PGx drug. Although the number of individuals who underwent PGx testing outside of our analysed setting remains unknown, our findings suggest that there is potential to improve PGx-driven medication optimization and thus personalized pharmacotherapy in Switzerland.
Supplementary Information
Below is the link to the electronic supplementary material.
Acknowledgments
The authors used Deepl Write (Deepl SE, Germany) for final language editing before submission.
Declarations
Funding
Open access funding provided by University of Basel.
Conflict of Interest
Christoph R Meier is an editorial board member of Drug Safety and so was not involved in the selection of peer reviewers for the manuscript or any of the subsequent editorial decisions. Nina L Wittwer, Carola A Huber, Henriette E. Meyer zu Schwabedissen, Samuel Allemann, and Cornelia Schneider have no conflicts of interest relevant to this work.
Availability of Data and Material
The datasets generated and/or analysed during the current study are not publicly available because of confidentiality requirements issued by Helsana. Analysis codes and datasets can be made available by the corresponding author (s.allemann@unibas.ch) upon reasonable request and with permission of Helsana.
Ethics Approval
Ethics approval was not necessary according to article 22 of the Swiss Federal law on data protection, as the study was retrospective and used anonymized data [32].
Consent for Publication
Not applicable.
Code Availability
The datasets generated and/or analysed during the current study are not publicly available due to confidentiality requirements issued by Helsana. Analysis codes and datasets can be made available by the corresponding author (s.allemann@unibas.ch) upon reasonable request and with permission of Helsana.
Author Contributions
All authors contributed to the study conception and design. Carola A Huber acquired the data. Nina L Wittwer and Cornelia Schneider analysed the data. All authors interpreted the data. Nina L Wittwer wrote the first draft of the manuscript, and all authors commented on previous versions of the manuscript. All authors read and approved the final manuscript.
Consent to Participate
In accordance with the Swiss Federal Law on data protection, all data were anonymised and de-identified to safeguard the privacy of patients, physicians, and hospitals. As the data were collected on a routine basis, retrospectively, from existing sources, and de-identified, no informed consent from patients was required, and the study was exempt from ethics committee approval in accordance with Swiss legislation on human research.
Footnotes
Samuel Allemann and Cornelia Schneider contributed equally.
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