Toward Integration of Pharmacogenomic Tests into Daily Clinical Practice: A General Survey for Polish Healthcare Workers

Background

Pharmacogenomics (PGx) is an interdisciplinary translational science for primary care that focuses on the utilization of an individual’s genomic profile to predict therapy response and prevention of adverse drug reactions (ADRs) or severe adverse effects in patients, while improving therapeutic outcomes [1]. PGx modifies patients’ prescriptions to adjust treatment decisions while considering the patients’ genomic profiles. In recent years, there were rapid developments in preparing PGx guidelines and annotations for many gene-drug interactions [2].

However, while PGx tests have been described as an important area in clinical centers, still there are many challenges for the incorporation of such tests into the routine clinical setting [3,4]. There are many obstacles for PGx tests to reach clinical utility and validity. These include, but are not limited to, a lack of background knowledge of general practitioners and physicians on the interpretation of a given PGx test result, absence of a comprehensive standardized program and/or recommendation to run PGx test in clinics (how the target patients must be selected, for example), small number of insurance providers for supporting the costs of such tests, and the need to provide a special infrastructure for cutting-edge panel-based PGx testing that can be implemented through any clinical center with the need for it [5–7]. Notably, an interactive discussion and exchange on personalized medicine through clinicians and other healthcare providers and also researchers would help fill the gap between the current efforts in investigations and the requirements in clinical setting to ensure that PGx testing with clinical utility could be brought to every patient in need [8,9].

Future research may emphasize preparation of more region-specific pharmacovariant (genomic variants in drug-related genes) evidences and target panel sequencing approaches aimed at distinct ethnic groups [10–12]. Furthermore, widespread and easy access to local genomic databases plus the PGx data for people in a portable format, such as a specific card with a QR code linked to the database (eg, Ubiquitous Pharmacogenomics Consortium. Ubiquitous Pharmacogenomics [U-PGx] project’s PGx passport [13]), might be essential. To deal with the above-mentioned topics, timely novel and original studies and evaluations would be required. However, initial steps seem to be the use of a general analytical survey that measures the primary knowledge of doctors and clinicians along with their desire to order clinical PGx tests that would be beneficial for both the community and individuals across populations.

The present research aimed to evaluate the level of awareness of PGx testing in clinicians and healthcare workers in the Republic of Poland. We aimed to demonstrate the associated difficulties and requirements for the implementation of such tests as part of the daily clinical practice through a specific questionnaire for the participants as well. Knowing about the main barriers of PGx testing is a fundamental phase for these genetic tests to be considered by the national healthcare system. To the best of our knowledge, this is the first direct assessment of the backgrounds and attitudes of Polish clinicians and healthcare workers toward the integration of PGx tests into a routine clinical context.

Material and Methods

STATISTICAL ANALYSIS:

Statistical analysis was performed in R v.4.1.2 (free open source, https://www.R-project.org). The sample size with an effect size of 50% and taking into account an error type 1 of 5% and a power of 90% was approximately 315 people. The analysis of the responses allowed us to determine whether the answers for particular questions were associated with descriptive variables, such as education level and employment in healthcare service. The data set was highly unbalanced. In particular, there were very few respondents with a medium education level; there were also few answers other than “yes” for the second question in the questionnaire: Is it worth implementing genetic testing for identification of actionable pharmacovariants to avoid possible ADRs? Therefore, we applied Fisher’s exact test for association between the answers and other variables instead of approximate methods like a chi-squared test. We tested the association between the answers and each descriptive variable as well as pairs of variables (education+work as healthcare provider). However, we did not find any significant pairwise interactions; therefore, the results of the pairwise tests are not mentioned further. Additionally, we tested if the answers for the 2 last questions depended on whether the respondent had heard about pharmacogenomics before.

Results

QUESTION 1: HAVE YOU EVER HEARD ABOUT PHARMACOGENOMIC TESTS?:

Table 1 also show the distribution of prior knowledge about pharmacogenomics. About two-thirds of participants had heard about PGx tests before. Fisher’s exact test did not detect any significant dependence between the group of respondents and the answer.

QUESTION 2: IS IT WORTH DOING PHARMACOGENOMIC TESTS?:

For this question, “yes” was the most common answer in all groups of participants (Figure 1). Only 3 respondents answered “no” to this question. Employment in healthcare services was not significantly connected with support for the use of PGx (Figure 1). Conversely, there was a significant association between the answer to the question and both the level of education and prior knowledge about PGx. In particular, the respondents who had not heard about PGx before were more likely to answer “I don’t know” to the question. The respondents at the medium educational level were more likely to give a negative answer to the question (although the uncertainty of this effect was big due to the small number of such participants and only 1 negative answer). To investigate the details, we repeated the tests after removing some groups of answers/respondents (Table 2). Removal of the answer “I don’t know” eliminated the dependence between the answer and the prior knowledge about PGx. The dependence on the education level disappeared after the removal of the group with medium education level.

QUESTION 3: BARRIERS TO IMPLEMENTATION OF PHARMACOGENETIC TESTS:

Table 3 and Figures 1, 2 show the frequency of particular answers to this question in different groups of participants. The most common answer in all the groups was “all of the above reasons”. The only association was found between education level and the answer. Namely, respondents with a higher education level were more likely to answer “all the barriers are important” than were other groups, and this difference was significant. However, students were more likely to give single answers (instead of “all the reasons”) for the third question, which asked about obstacles. Finally, we added 3 tests in the R script for the associations we found in the data. The result proved all the associations were significant as well (Table 4).

Discussion

LIMITATIONS:

To keep the data as private as possible and reduce participant hesitancy to share responses, we decided to not assess where the respondents were working or being educated. However, knowing about the workplace and place of study could also have been helpful in evaluating the depth and breadth of the responses. Also, the survey data collection was performed only for 4 months because we wanted to assess participants’ knowledge and attitudes in a very current timeframe. However, a longer period of time could have led to more collected data and a more meaningful result. Finally, the fact that only 1 question relied on background knowledge of participants and the depth of actual knowledge could not be assessed in a quick survey raises the issue of replacing the term “knowledge” with “awareness” of PGx.

Conclusions

This study revealed the positive trend and attitude among Poland’s clinicians and other healthcare system employees/students toward the integration of PGx tests in routine clinical practice. While the awareness and interest of the participants may encourage healthcare and legislative stakeholders to provide facilities with the necessities for wide scale clinical implementation of PGx tests, some main barriers remain. These need to be removed if the entire country wants to receive the benefits of personalizing drug therapy using genetic information.