A nationwide cross-sectional study in Saudi Arabia for the assessment of understanding and practices of clinicians towards personalized genetic testing

The study findings highlighted the growing importance of personalized genetic testing in day-to-day clinical practices in Saudi Arabia. Personalized genetic testing holds massive potentials in tailoring medical interventions to patients’ needs. However, the effective implementation of personalized genetic testing hinges critically on the knowledge, attitudes, and practices of clinicians, who are at the forefront of integrating these innovations into everyday medical practice. Our study revealed a diverse range of perceptions among clinicians regarding personalized genetic testing, highlighting both the enthusiasm for its potential benefits and concerns about its challenges. More specifically, our findings highlighted several key areas in this domain including: the state of training and practices of personalized genetic testing among clinicians, their level of knowledge and confidence in personalized genetic testing, their perceptions about the effects of personalized genetic testing on patient outcomes, public perceptions toward personalized genetic testing, and barriers to the implementation of personalized genetic testing.

The study results showed low involvement of participants in genetic testing-related research, which suggests a notable gap in research activity in this field. However, this contrasts with the other finding of our study that most participants had received training in personalized genetic testing, which are in line with a US study findings²⁴. In contrast to that, in most of the related studies, like Egyptian, Ethiopian, Canadian and UAE studies^14,25,26,27, the low score of this field’s knowledge among participants was due to the facts that pharmacogenetics and personalized medicine was not included as a part of their medical education curriculum of undergraduate and postgraduate studies and there was insufficient training in these areas for them, which highlights the need of continuing education for them in this area. Similar to many other studies^14,25,26,27, majority of the participants were interested in continuing their education and training opportunities in personalized genetics and pharmacogenetics, which showed their readiness and willingness to excel in this field. This kind of continuing education can be provided through several avenues, such as seminars, symposiums, workshops, conferences and online educational programs.

Since all the respondents of this survey were practicing physicians, as expected from their role in decision-making for patient treatment, almost two-fifths of them were ordering genetic tests directly, while the others consulted with specialists / geneticists before ordering the genetic tests. The frequencies of test orders in the past few months varied from role to role of clinicians and as per patient care requirements. The availability of related pharmacogenomics and genetic technologies for the clinicians is also an important area that should be considered while assessing the ordering of genetic testing practices²⁶.

Similar to the Canadian study¹⁴, our study results also showed that only few participants agreed to be sufficiently informed about genetic tests, reflecting a lack of knowledge or not having complete understanding of the genetic testing process. Moreover, only few participants agreed that they could interpret the results of the genetic tests. Almost one-third of the participants were comfortable informing patients about these tests, which probably shows the low level of confidence in personalized genetic testing practice. This underscores the necessity for increased awareness and guidance for participants to leverage the benefits of genetic testing fully.

Again, similar to the Canadian study¹⁴, as reflected by our results, most participants indicated that understanding the genetic profiles and their values can improve the decision-making and patient outcomes. The participants in our study revealed that the genetic tests had influenced their patients’ treatment plans and helped them know the sensitivity and risks of the patients’ disorders, similar to Canadian and UAE studies^14,27. This somehow points out the need for the adoption of genetic testing guidelines and evidence-based medicine in patient care to support the decision making of healthcare professionals. However, in our study results, there was mixed feedback from the participants that there was insufficient evidence for convincing them to order genetic tests for their patients.

The results of our study showed that only a minor percentage of patients had inquiries about personalized genetic testing, and a small percentage of patients had concerns about discrimination due to genetic test results. This shows that either the patients are not aware of genetic testing, or they just follow the directives of the clinicians for their treatments and do not bother much about the testing options. These results are similar to the findings of a Pakistani study²⁸. It seems that the concept of being an informed patient is also missing in this context that refers to how the clinicians communicate with their patients, empower them to improve their health literacy skills, and help them to make informed decisions for taking care of their health²⁹. With the awareness of genetic tests, the role of patients in supporting the initiative of precision medicine is also becoming important, as they can approach direct-to-customer testing nowadays¹⁰. These direct-to-customer genetic tests are consumer-oriented, readily accessible, and provide liberty to the consumers to manage their genetic information; but on the other side, they have ethical, legal, and social implications regarding data protection and clinical utility³⁰. This recommends to the awareness programs and future studies that should be initiated for patients about knowing personalized genetic testing and their role in personalized medicine²⁸. In addition, the results of our study among clinicians align with a Saudi study¹⁵, which focused on the genetic testing in public and found positive attitude of people towards genetic testing.

In terms of participants’ background, education and expertise, we observed that most of related studies^{14,24,25,26,28} covered broad occupations and did not focus on the practicing clinicians, which usually play the key role in ordering genetic tests and evaluating genetic profile of the patients for their care and treatment. This might be due to the scope of those studies, e.g. different clinical specialties, and varied types and distinctions of genetic testing. The only study which focused on practicing clinicians that we found was the Canadian study¹⁴ but even it covered only three medical specialties (oncology, cardiology and family medicine) exclusively, whereas our study contained a broad coverage of various specialties. This unique aspect suggests examining the trends of genetic testing and personalized medicine in multiple medical specialties for the future studies.

Barriers and challenges

The response from the clinicians affirmed that there were multiple barriers in adopting and implementing personalized genetic testing in their practices, as shown in the Fig. 2. The barriers that got more than 50% consensus from the clinicians included: genetic tests requiring multiple changes in the clinical practices, costs associated with them, and lack of clinical practice guidelines for them. The same barriers were resulted from the Canadian study¹⁴, with the addition of barriers: limited awareness of genetic testing benefits for clinicians, and lack of time and resources to educate patients. Likewise, the key barrier for the Egyptian study was the lack of pharmacogenetics knowledge and skills, followed by lack of testing devices, funding, and qualified personnel²⁵. Similarly, the UAE study also identified the cost of testing as the main barrier in personalized genetic testing implementation, followed by lack of training / education as well as the insurance coverage²⁷. In terms of education and training of future clinicians, the inculcation of personalized genetic testing expertise in them and incorporation of personalized genetic testing courses in medical education is essential; while on the other side from the patients’ perspective, the enhancement of common knowledge of the public / patients about the basics of genetics and genomics is also needed^9,31.

Strengths and limitations

This study is the first comprehensive exploration of personalized genetic testing among clinicians in Saudi Arabia. A notable strength of this research lies in its diverse participants’ representation, i.e. encompassing a wide range of medical specialties from pediatrics to elderly care across primary, secondary and tertiary care levels of healthcare provision. This extensive coverage offers a unique and holistic view of personalized genetic testing practices, setting this study apart from others that have often focused on a limited range of specialties^14,25,26,27. Additionally, the high professional experience among the participants, primarily consultants and specialists, further enhances the study’s credibility. Over one-third of the respondents also held academic appointments, reflecting a valuable intersection between clinical practice and medical education.

However, our study’s design and methodology presented certain limitations. The study’s cross-sectional nature restricted our ability to establish causal relationships or track the evolution of clinicians’ perceptions and practices over the time. A significant limitation was the low response rate and resulting small sample size, which raises concerns about the representativeness of the findings. While the study offered important insights, the limited sample may not fully capture the breadth of views and practices among all healthcare professionals in Saudi Arabia. Therefore, these limitations must be considered when interpreting the results and their applicability to the broader medical community.