Non-genetic physicians’ self-assessment of knowledge and confidence toward genetic testing and counseling: a national survey in a high consanguineous population

Abstract

Genetic testing is increasingly used in clinical practice. This places new demands on non-genetic physicians (NGPs) to select appropriate tests, interpret complex results, and counsel patients about implications. In highly consanguineous countries such as Saudi Arabia, where the burden of hereditary diseases is high, these demands require a genomic-ready workforce. This study aimed to assess NGPs’ self-perceived knowledge and confidence regarding genetic testing and counseling, and to examine their association with demographic and professional characteristics. An online questionnaire was distributed and completed by 582 NGPs from all regions in Saudi Arabia. The questionnaire collected demographic data, self-assessments of knowledge and confidence, referral frequency to a genetic counselor or clinical geneticist, and resources used to obtain genetic information. The self-assessment of NGPs’ knowledge and confidence revealed a deficit. Results indicated moderate genetic knowledge among the NGPs, with a median of 4 (interquartile range 1–8) out of 16, and low confidence levels, with a median of 2 (interquartile range 0–4) out of 8. Consultants exhibited significantly higher knowledge and confidence compared with other ranks (p < 0.001). A strong positive correlation was observed between knowledge and confidence levels (Spearman’s rho = 0.796, p < 0.01). Over half of the NGPs (54.3%) referred patients to genetic counselors or geneticists, and more than 50% relied on general clinical resources (UpToDate and search engines), whereas fewer than 50% reported using Online Mendelian Inheritance in Man (OMIM) or GeneReviews. This study reports low self-perceived genetic knowledge and confidence among NGPs in Saudi Arabia, despite frequent exposure to patients with genetic conditions. Strengthening genetic education throughout medical and residency training and integrating clinical decision support into mainstream models are critical to building a genomics-ready workforce aligned with Saudi Vision 2030.

Supplementary Information

The online version contains supplementary material available at https://doi.org/10.1007/s12687-026-00925-4.

Introduction

Genomic medicine has advanced over the past decades, with genetic tests now widely used for diagnosis, prognosis, and management across multiple specialties (Mackley et al. 2025). As genetic testing becomes more accessible and affordable, however, healthcare providers must know which test to order, how to interpret the results, and how to explain the benefits and limitations of each test to optimize treatment decisions and improve health outcomes (Hauser et al. 2018; Kurnat-Thoma 2020). International studies indicate that only about one quarter of physicians feel adequately prepared to use genomic testing in practice, reporting particularly low confidence in test selection, result interpretation, and communicating genetic information to patients (Nisselle et al. 2021; Björk et al. 2025). Consequently, optimizing the clinical impact of increasing genetic tests depends on strengthening non-genetic physicians’ (NGPs) competencies in genetic medicine, including their ability to understand indications, limitations, and implications of these tests for patient care (Donohue et al. 2021; Nisselle et al. 2023; Coleman et al. 2023).

Substantial deficits in knowledge and confidence persist among NGPs globally. Recent studies from multiple countries demonstrate that healthcare professionals across specialties lack adequate genetic competency, despite genomics becoming integral to clinical practice. In Sweden, a self-assessment survey of NGPs found wide variation in self-reported knowledge; approximately 70% felt confident in basic concepts but only 35% in genetic testing, and only 3% preferred to manage patients independently (Björk et al. 2025). Another national survey in Australia revealed that only 25% felt prepared, and confidence correlated significantly with engagement in continuing genomic education (Nisselle et al. 2023). In the Middle East, healthcare providers face unique challenges, including limited resources, high rates of consanguinity, the need for specialized counseling approaches, and cultural factors that influence patients’ attitudes toward genetic testing (Shenbagam et al. 2025).

Knowledge regarding testing methodologies, diagnostic criteria, and treatment is constantly evolving. Healthcare providers must stay updated on this field to make informed medical decisions, often with the support of genetic specialists (Almomani et al. 2020). However, many questions exist regarding how NGPs perceive and use these tests, including when, how, and why to order them. Emerging “mainstream” models propose that, with appropriate training and support, NGPs can feel more comfortable with genetic testing and counseling, while maintaining collaboration with genetic specialists for genetic cases (Mackley et al. 2025). Therefore, assessing how NGPs self-report their knowledge and confidence regarding genetic testing and counseling is helpful for planning such models.

Saudi Arabia faces the rapid advancement of genetic testing with urgency. Consanguineous marriages account for about 60% of the Saudi population, which is among the highest rates worldwide (Alqahtani et al. 2023). This pattern contributes to a higher prevalence of autosomal recessive genetic disorders, including metabolic, cardiac, and neurodevelopmental conditions (Almalki 2025). A recent national study identified the lack of clinical practice guidelines as the primary barrier to genetic testing implementation among Saudi clinicians (Uddin et al. 2024), while primary healthcare physicians report inadequate preparedness for genetic services (Almalki 2025). Additionally, previous studies in Saudi Arabia have shown that medical students and interns exhibit notable deficiencies in basic and clinical genetic knowledge, particularly in inheritance patterns and genetic testing, despite recognizing the importance of genetics in future practice (Alotaibi and Cordero 2021; Zakariyah et al. 2024). In Saudi Arabia, where genomic initiatives are expanding and the burden of genetic disease is high, national strategies such as Saudi Vision 2030 aim to reduce the impact of hereditary and other non-communicable diseases. Despite these developments, critical gaps in the literature remain. There are no studies that have provided a national, multi-specialty survey of NGPs’ self-perceived knowledge and confidence regarding genetic testing and counseling across different professional ranks. Additionally, existing knowledge does not examine everyday practice, such as encounters with patients with genetic conditions, test ordering, referrals to genetic services, and resource availability.

In light of these gaps, this study aims to (1) assess NGP’s self-perceived knowledge and confidence regarding key aspects of genetic testing and counseling; (2) examine the association between self-perceived knowledge and confidence scores and physicians’ demographics; (3) describe genetics-related practice patterns, including how often NGPs encounter patients with genetic diseases, how frequently they order genetic tests, and the reasons they refer patients to genetic counselors or clinical geneticists; (4) Identify preferred information resources to inform targeted training and support programs for NGPs in Saudi Arabia.

Material & methods

Ethical consideration

The Committee for Bioethics of Research, Medical & Scientific of the University of Jeddah reviewed and approved the study protocol and procedures under the reference number (UJ-REC-104). Before initiating the online questionnaire, participants were asked to declare their consent to engage in the study by responding to the question, “Do you agree to participate in this study?” with either “Yes” or “No.” By clicking “Yes,” they consented to participate, thereby granting them access to the questionnaire. Conversely, those who selected “No” were not permitted to view the questionnaire, which ensured that participation was entirely voluntary and based on informed consent.

Study design, settings, and subjects

This is a cross-sectional study with the primary objective of assessing how knowledgeable and confident NGPs are regarding genetic testing and counseling, using a three-point self-assessment scale (slightly/moderately/very). The inclusion criteria encompassed all NGPs actively practicing across all regions in Saudi Arabia to ensure nationwide representation of the current state of NGPs’ self-perceived assessments. Participants who declined to participate or did not complete the questionnaire were excluded from the study.

Sample size and data collection

This study targeted NGPs from all regions of Saudi Arabia working in government and private sectors, across different specialties, and at various professional ranks. For this study, NGPs were defined as licensed physicians who don’t hold formal qualifications or training in clinical genetics and genetic counseling. The minimum required sample size was estimated at 385 to achieve a 95% confidence level with a margin of error of ± 5%. The Raosoft sample size calculator was used to determine the adequate sample size for the study.

A convenience sampling procedure strategy was employed. An online questionnaire was created in Google Forms, and the survey link was distributed via social media platforms, including WhatsApp and Twitter. The link was also sent to physicians’ email addresses via the Saudi Commission for Health Specialties, the primary national regulatory authority in Saudi Arabia responsible for accrediting, classifying, and registering physicians. The first page of the questionnaire provided an introduction describing the research purpose, eligibility criteria, and the voluntary nature of participation. Proceeding with the questionnaire was considered informed consent, as participants were informed about the study objectives and data use. The online questionnaire was disseminated between March 2023 and October 2023. The questionnaire was in English, and all fields were required to be completed. Completion time was approximately 4–6 min. The data was then stored and collected in an Excel sheet for subsequent analysis. A total of 582 NGPs consented to participate in the survey and were successfully recruited.

Pilot study, validity, and reliability of the questionnaire

The questionnaire was developed and self-structured by the study team following expert review by a clinical geneticist, a genetic counselor, a molecular geneticist, and a biostatistician to assess content validity. For face validity, the questionnaire was reviewed by non-subject experts. To assess clarity and feasibility, a pilot test was conducted among thirty NGPs. Feedback from these participants was incorporated, and necessary modifications were made to the questionnaire to ensure clarity. Pilot data were excluded from the final analysis. Moreover, we assessed the questionnaire’s reliability using Cronbach’s alpha to evaluate the internal consistency of the study variables. The Cronbach’s alpha for the entire survey was 0.861, indicating good internal consistency.

Questionnaire

The questionnaire was composed of seven sections: (1) demographic information (gender, age, nationality, workplace, and region within Saudi Arabia), (2) specialization, rank and experience, (3) self-assessment of knowledge regarding genetic testing, (4) self-assessment of confidence toward clinical practice (5) frequency and type of genetic tests ordered, (6) perceived need for genetic tests and counselors, and (7) resources used to address questions related to genetic testing. To minimize incomplete data, all questions were mandatory, ensuring that respondents answered all items before submitting the survey.

Self-assessed knowledge was calculated based on a score for eight questions, each rated on a three-point scale: Slightly knowledgeable was designated “0”, moderately knowledgeable “1”, and very knowledgeable “2”. These eight questions were summed to generate a total self-assessed knowledge score, and the median and interquartile range (IQR) were calculated. Self-assessed confidence was calculated based on a score of 4 questions, in which slightly confident was designated “0”, moderately confident as “1”, and very confident as “2”. All four questions regarding confidence were summed, and the median and IQR were calculated. The full questionnaire is provided in Supplementary File S1.

Data analysis

Data was collected using Microsoft Excel and IBM SPSS Statistics, version 20.0 (Armonk, NY: IBM Corp), which was used for the analysis. Frequencies and percentages were used to describe the categorical variables (gender, nationality, workplace, and Saudi Arabian regions). Means and standard deviations were calculated for normally distributed data, whereas medians and interquartile ranges (numerical variables such as age and years of experience) were used for non-normally distributed data. Bar graphs were used to represent categorical variables. Comparison of numerical variables with categorical variables was done using the Mann–Whitney test or Kruskal–Wallis test as appropriate. The Mann–Whitney test was used to compare knowledge and confidence scores across gender, nationality, and workplace. The Kruskal–Wallis test was used to compare the scores of knowledges and confidence between speciality ranks. A scatter plot was used to show numerical comparisons. Multiple linear regression was done to assess the knowledge and confidence. To ensure the completeness of the dataset and minimize missing values, participants were required to respond to all questions before they could submit their responses. This reduced the likelihood of incomplete data submissions. Furthermore, any submissions that were missing or incomplete were excluded from the analysis to avoid potential bias from missing data.

Results

Demographic characteristics of participants

The study included 582 NGPs with a mean age of 39.6 years (SD = 11.12). The median years of experience after graduating from medical school were 12 years (IQR = 5–20.3). Demographic data indicated that 54.1% (n = 315) of physicians were male and 45.9% (n = 267) were female. The majority [75.1% (n = 437)] were of Saudi nationality, whereas 24.9% (n = 145) were non-Saudi. Most [75.3% (n = 438)] worked in government hospitals, whereas 24.7% (n = 144) worked in private hospitals. Physicians were located across various regions in Saudi Arabia, with the highest percentage in the Western region [51.2% (n = 298)]. Regarding the level of specialization, 48.8% (n = 284) were consultants, while the rest held other ranks, such as registrar, fellow, or resident. Table 1 lists the demographic information of the study participants. When asked about their awareness of specialized medical genetics clinics in Saudi Arabia, 77.8% reported awareness, whereas 22.2% were not. Similarly, 76.9% were aware of genetic counseling clinics in Saudi Arabia, whereas 23.1% were not. The distribution of specialties among the surveyed physicians varied. The largest groups were those involved in pediatrics and internal medicine, each comprising 23%. General practitioners accounted for 6.7%, family medicine for 12.5%, obstetricians and gynecologists for 8.4%, and ophthalmologists for 3.1%. The remaining 23.2% were associated with other specialties.

Table 1.

Demographic data of NGPs (n = 582)

Variants		Frequency n = 582	Percentage %
Gender
Male		315	54.1
Female		267	45.9
Nationality
Saudi		437	75.1
Non-Saudi		145	24.9
Workplace
Government hospital		438	75.3
Private hospital		104	17.9
Other		40	6.9
Region in Saudi Arabia
Central region		119	20.4
Western region		298	51.2
Eastern region		64	11
Southern region		71	12.2
Northern region		30	5.2
Rank of specialization
Consultant		261	44.8
Assistant Consultant		23	4
Senior Registrar		40	6.9
Registrar		66	11.3
Fellow		27	4.6
Resident		165	28.4
Specialities
General practitioner		39	6.7
Pediatric		134	23
Internal Medicine		134	23
Obstetrics and Gynecology		49	8.4
Family Medicine		73	12.5
Ophthalmology		18	3.1
Others		135	23.2

NGPs’ self-assessment of knowledge and confidence

Participants rated their self-perceived knowledge and confidence rather than the objective test performance of genetics. Regarding how knowledgeable they feel toward genetic testing, as shown in Table 2, we found that a high percentage of NGPs considered themselves slightly or moderately knowledgeable in several key areas of genetics. Specifically, most NGPs rated themselves as slightly knowledgeable of the limitations of genetic testing [53.6% (n = 312)], the cost of genetic testing [55.2% (n = 321)], their ability to read and interpret genetic test results [60.1% (n = 350)], awareness of average turnaround time for genetic tests [63.4% (n = 369)], and the possibility of uncertain or unexpected/secondary results [60.1% (n = 350)] and [60.3% (n = 351)], respectively, as listed in Table 2.

Table 2.

NGPs’ self-assessment of knowledge toward genetics

	Frequency n = 582 (Percentage %)
Knowledge self-assessment	Slightly knowledgeable	Moderately knowledgeable	Very knowledgeable
Basic concept in genetics	234 (40.2)	249 (42.8)	99 (17)
Indications for genetic testing	206 (35.4)	243 (41.8)	133 (22.9)
Limitations of genetic testing	312 (53.6)	176 (30.2)	94 (16.2)
Cost of genetic testing	321 (55.2)	146 (25.1)	115 (19.8)
Ability to read and interpret genetic test results	350 (60.1)	161 (27.7)	71 (12.2)
Awareness of average turnaround time for genetic tests	369 (63.4)	132 (22.7)	81 (13.9)
Awareness of the possibility of uncertain results	350 (60.1)	138 (23.7)	94 (16.2)
Awareness of the possibility of unexpected/ secondary results	351 (60.3)	143 (24.6)	88 (15.1)

Regarding their confidence, the NGPs were asked how they rate their confidence in various areas of genetics, as shown in Table 3. Similar to their self-assessment of knowledge, the results indicated that most NGPs felt slightly confident in their understanding of basic genetic concepts [46.7% (n = 272)] and indications for genetic testing [43.8% (n = 255)]. Moreover, more than half of the physicians were slightly confident about the limitations of genetic testing [56% (n = 326)], whereas 59.3% (n = 345) felt the same about the cost of genetic testing.

Table 3.

Self-assessment of NGPs’ confidence in genetic testing and practices

	Frequency n = 582 (Percentage %)
Confidence level	Slightly confident	Moderately confident	Very confident
Basic concept in genetics	272 (46.7)	197 (33.8)	113 (19.4)
Indications for genetic testing	255 (43.8)	193 (33.2)	134 (23)
Limitations of genetic testing	326 (45)	172 (29.6)	84 (14.4)
Cost of genetic testing	345 (59.3)	140 (24.1)	97 (16.7)
Are you comfortable in counseling patients regarding medical genetic results/diagnosis?	209 (35.9)	164 (28.2)	209 (35.9)

Association between knowledge and confidence towards genetics and demographic characteristics among the NGPs

The median score of the knowledge self-assessment was 4 [IQR (1–8)] out of 16. The results did not indicate significant differences between gender, nationality, working place, region of residency, and specialty; however, a significant difference was observed across the four ranks of specialization (p < 0.001), as shown in Table 4. The median self-assessment confidence score was 2 [IQR (0–4)] out of 8. Similar to the knowledge score, no significant difference was observed in NGPs confidence between gender, nationality, working place, region of residency, or specialty; however, a significant difference was observed across four levels of specialization among the NGPs (p < 0.001), as shown in Table 4.

Table 4.

Association between knowledge and confidence with NGPs’ demographics

	Total knowledge scores out of 16 p-value		Total confidence scores out of 8 p-value
	Median	Mean rank	Median	Mean rank
Sex	0.593*		0.222*
Male	3	288.1	2	283.8
Female	4	295.5	2	300.6
Nationality	0.753*		0.635*
Saudi	4	292.8	2	289.6
Non-Saudi	4	287.7	2	297.1
Workplace	0.452*		0.215*
Government hospital	4	294.5	2	296.4
Private hospital/other	3	282.4	2	276.7
Region in Saudi Arabia	0.168†		0.697†
Central region	4	291.8	2	287.9
Western region	4	302.9	2	300.1
Eastern region	3	296.3	1	287.2
Southern region	3	254.2	2	269.0
Northern region	3	254.7	2	282.9
Level of specialization	< 0.001†		< 0.001†
Consultant	5	337.1	3	336.9
Registrar	3	277.2	2	282.2
Fellow	3	266	0	243.8
Resident	2	226.4	1	227.2
Specialties	0.942†		0.374†
General practitioner	3	278.7	1	251.9
Pediatric	4	302.6	2	293.4
Medicine	4	298.2	2	298.7
Obstetrics and gynecology	3	275.2	1	262.3
Family medicine	4	286.9	2	277.6
Ophthalmology	2.5	279.3	3	306.2
Others	3.5	287.4	3	310.1

*Mann–Whitney test; †Kruskal–Wallis test

A Spearman’s rank correlation showed a strong positive correlation between total confidence and knowledge score (rho = 0.796, p < 0.001), as shown in Fig. 1. Indicating that physicians who perceived themselves as more knowledgeable also tended to report higher confidence. No other significant correlation was observed between knowledge or confidence and age, years since graduation, or years of experience.

Fig. 1.

Correlation between knowledge and confidence of the NGPs. Scatter plot showing the correlation between knowledge and confidence of the participants. Spearman’s correlation test shows a strong positive correlation between knowledge and confidence; rho = 0.796, p < 0.001

In multivariable linear regression, the model for the total knowledge score was statistically significant (F (7, 562) = 6.85, p < 0.001), but it explained a modest proportion of variance (adjusted R² = 0.067). After adjustment, years of experience after completion of medical school were positively associated with higher knowledge scores, whereas later years of graduation and region of practice were associated with lower knowledge scores. Gender, age, nationality, and workplace sector were not significantly associated with the outcome (Table S1).

The regression model for confidence was also statistically significant (F (7, 562) = 8.077, p < 0.001; adjusted R² = 0.080). Older age, working in the private sector, practicing in some regions, and more years of experience showed a borderline positive association (Table S2).

NGPs’ practice towards genetic testing and counseling

We determined the frequency at which NGPs reported encountering patients diagnosed with genetic conditions (Fig. 2). Among all physicians, 32.8% reported that they did not encounter any patients diagnosed with genetic conditions. Conversely, the remaining 67.2% of physicians reported that they had encountered patients diagnosed with genetic conditions at different frequencies. Specifically, 22.3% of physicians encountered such patients once every 6–12 months, whereas 17.9% reported encounters once every 2–6 months. A smaller percentage experienced these encounters more frequently: 12% once every 1–2 months, 6.9% once every 2–4 weeks, 5.5% weekly, and 2.6% daily. Because these findings are based on self-reported encounters, they may underestimate the true frequency of genetic conditions encountered in practice, as some physicians may not recognize the underlying genetic etiology of these conditions.

Fig. 2.

The percentage of NGPs and the frequency with which they self-reported encountering patients diagnosed with genetic conditions in their practice. The bars illustrate the frequency at which NGPs reported encountering patients diagnosed with genetic conditions during their clinical practice. The bar graph displays the distribution of self-reported encounters across different time intervals

Participants were also asked to select the genetic tests they had ordered in their practice (Table S3). Chromosomal analysis was the most commonly ordered test, 47.1% (n = 273), followed by carrier-specific mutation testing at 29.3% (n = 170) and single-gene testing at 27.6% (n = 160). Other genetic tests included fluorescent in situ hybridization (FISH) 27.9% (n = 162), genetic panels 27.6% (n = 160), whole-exome sequencing 27.1% (n = 157), and chromosomal comparative genomic hybridization (CGH)/single-nucleotide polymorphism (SNP) array 18.3% (n = 106). Non-invasive prenatal testing/screening (NIPT/S) was ordered by 21.6% (n = 125) of the participants.

Next, we determined the percentage of physicians who directed their patients to genetic counselors or geneticists and the underlying reasons for these referrals (Table S4). The results indicated that 54.3% (n = 316) of NGPs referred their patients to a genetic counselor or geneticist, although the reasons for these referrals varied. The most frequently cited reason was future prevention, 88.6% (n = 280). Family counseling was a reason for referral in 87.7% (n = 277) of the NGPs. A multidisciplinary approach was the third most common reason at 87.0% (n = 275). This was followed by treatment and management, which accounted for 83.5% (n = 264) of the NGPs. A family’s or patient’s interest was a reason for referral in 67.2% (n = 211) of the NGPs. The lack of genetic knowledge accounted for 59.8% (n = 189). The least common reason for referral was the lack of time to explain the risks and benefits at 43.4% (n = 137).

Resources for genetic information among NGPs

When asked the NGPs about the resources used to obtain genetic information. The data revealed that the most frequently used resources among > 50% of the NGPs were online medical websites (UpToDate) 78.3% (n = 456), journals/articles/reviews 60.9% (n = 355), and search engines and textbooks 50.2% (n = 293). Less than 50% NGPs used other resources, such as Gene Review, genetic laboratory websites, and Online Mendelian Inheritance in Man (OMIM) (Fig. 3).

Fig. 3.

Usage of different resources for acquiring genetic information among NGPs. The bar chart illustrates the various resources NGPs use to obtain genetic information. They represent the percentages of physicians and list different types of resources. The percentages are calculated based on the total number of respondents for each resource

Discussion

This national survey revealed a concerning gap in the self-perceived genetics knowledge and confidence among NGPs in Saudi Arabia, a country with a high prevalence of genetic diseases. Self-perceived knowledge and confidence scores differed significantly across professional ranks in genetic testing and counseling, with consultants scoring highest (p < 0.001). We also examined the relationship between physicians’ self-assessment of knowledge, confidence, and professional experience and found a strong positive correlation between total knowledge and confidence (Spearman’s rho = 0.796, p < 0.01). These findings suggest that improvements in genetic knowledge may enhance physicians’ confidence in genetic testing and counseling and underscore the need for targeted educational interventions, particularly for NGPs in the early stages of their careers. The study identified an association between the region of practice and knowledge. Regional differences may reflect variation in access to institutional educational resources, healthcare policy implementation, healthcare infrastructure, or continuing professional development opportunities. These explanations remain speculative as these factors were not directly assessed in the current study. Therefore, the observed association should be interpreted with caution.

Our results are consistent with studies from other health systems, showing that primary care and specialty physicians often feel uncomfortable managing genetics-related issues that arise in routine clinical practice (Douma et al. 2016; Haga et al. 2019; Harding et al. 2019; Lemke et al. 2020; Björk et al. 2025). In our cohort, most NGPs reported low to moderate self- perceived knowledge and confidence in basic genetic concepts and in their ability to read and interpret genetic test results, mirroring these international patterns. A previous qualitative study with NGPs has similarly found that clinicians experience difficulties supporting patients through genetic testing, particularly when discussing indications and risks (Pasquier et al. 2022). Another study indicated that health professionals without a genetic background have limited expertise and ability to discuss and prescribe genetic testing for hereditary cancer (Douma et al. 2016), and that primary care providers struggle to interpret results and to manage patients within the context of precision medicine (Haga et al. 2019). Taken together, previous research and our findings indicate a persistent gap in genetic knowledge and confidence among NGPs, which may hinder their ability to fully participate in precision medicine initiatives (Mawkili 2025).

In this study, nearly 60% of NGPs reported a lack of genetic knowledge as a reason for referring patients to genetic counselors, and 67.2% reported encountering patients with genetic conditions in their practice. These findings underscore both the clinical relevance of genetic issues in routine care and the need for educational interventions to enhance genetic literacy among NGPs. Evidence supporting the effectiveness of such interventions comes from multiple evaluated programs. For example, the Gen-Equip initiative in Europe successfully increased primary care physicians’ knowledge and skills in genetics and facilitated practical changes in their practice, including improved family history taking and more appropriate referrals (Jackson et al. 2019). Similarly, an Italian distance learning course in genetics and genomics for medical professionals (Calabrò et al. 2021), effectively increased their knowledge, suggesting that distance learning is a viable option for enhancing physicians’ genetic competencies. In Malaysia, systematic efforts to expand genetic counselling, testing, and diagnostic services, coupled with health education programs, led to measurable improvements in clinicians’ genetic testing knowledge and contributed to the formal recognition and funding of clinical genetics as a specialty (Chin and Tham 2020). Recent Australian programs have successfully embedded genetic counselors within clinical teams. They attended multidisciplinary meetings, provided education, and offered consultation to upskill their non-genetic colleagues in genomic testing and counseling (Do et al. 2024). For Saudi Arabia, where national genomic initiatives are rapidly evolving, and the burden of hereditary disease is high, these international examples provide an actionable model. Such models expedite patient access to testing and enhance NGPs’ capabilities. Adapting these approaches to the Saudi context by integrating genetics modules into residency training, accessible online education, and embedding a genetic counselor in high-volume specialty clinics can address the gaps in genetics literacy among young NGPs.

Among our cohort, more than 50% of NGPs reported using up-to-date journals/articles/reviews and reviews, as well as general search engines, to answer genetic questions, whereas fewer NGPs used specialized genetic resources such as OMIM, GeneReviews, or professional society guidelines. This pattern suggests that NGPs rely on general clinical platforms and may be unfamiliar with specialized genetics databases that provide comprehensive, regularly updated, and gene-specific information (Cornel 2019; Mladenić et al. 2024). Several strategies have been applied to increase awareness and use of specialized genetic resources among NGPs. These include embedding genomic indicators and clinical decision support alerts directly into electronic health records that flag actionable genetic information and link to specialized resources such as OMIM and GeneReviews at the point of care (Robertson et al. 2024). Implementing a similar approach, coupled with targeted training on the use of these tools, could enhance NGPs’ knowledge and confidence in ordering, interpreting, and counseling patients.

Limitations and future prospects

This study provides the first national, multispecialty assessment of NGPs’ self-perceived genetic knowledge and confidence in Saudi Arabia. However, several limitations should be noted. First, the survey assessed self-perceived competence rather than objective genetic knowledge or actual clinical performance, and self-rating may not fully correspond to reality, in which NGPs with lower ability overestimate their performance, whereas those with higher ability often underestimate theirs (Gaeta et al. 2024). In future work, complementing self-reported measures with objective assessments of genetic knowledge and skills would provide a more accurate picture of the NGP’s actual competencies. Second, the questionnaire was distributed online using a convenience sampling approach, and this could result in recruiting physicians with greater access to digital platforms or prior interest in genetics. Third, although our cohort consists of diverse specialties, the analysis was not powered to provide detailed, specific estimates of knowledge and confidence needs for each specialty. Limiting the ability to design targeted educational interventions for specific clinical fields. Fourth, this is a cross-sectional study, and the observed associations between professional rank, year of experience, and knowledge/confidence are correlational and may reflect unmeasured confounding, such as prior exposure to genetic training or institutional polices on genetics testing. Despite these limitations, the study provides a starting point for understanding the current state of genetic knowledge among NGPs in Saudi Arabia and highlights the need for targeted educational intervention.

Genetics plays a central role in guiding patients and their families through the selection of appropriate tests, the interpretation of often expensive and extensive tests, and navigating the complexities of rare or multifactorial diagnoses. Effective genetic care helps patients make informed decisions that align with their personal goals and expectations and ensures that test results are translated into appropriate treatment, surveillance, and preventive strategies, particularly for rare disorders. In Saudi Arabia, initiatives such as the Saudi Genome Program, which was launched under the health sector transformation program of Saudi Vision 2030 to reduce the burden of genetic disease and embed genomics into high-quality healthcare, already provide a strategic framework for scaling up genomic services (Al Asmri et al. 2020; Vision 2030 2024). Aligning targeted educational interventions with mainstreaming models of genetic services in which genetic testing and counseling are integrated into routine specialty care with support from genetic counselors will be critical for translating the national genomic investments into improved patient outcomes (Do et al. 2024). Therefore, healthcare authorities and professional bodies must implement policies and invest in sustained education and training in genetic testing for healthcare professionals (Mawkili 2025).

Conclusion

This national study provides a starting point for understanding the current state of NGPs’ self-perceived genetic knowledge and confidence in Saudi Arabia and demonstrates a substantial gap in these domains among the surveyed NGPs. The results serve as a call to action to develop and implement targeted educational interventions, particularly for NGPs in their early years of practice, to bridge the knowledge and confidence gap in genetic testing and counseling in Saudi Arabia. Future interventions should focus on evidence-based content that addresses disparities in genetic knowledge and confidence among NGPs. It is also essential to determine the long-term effectiveness of these interventions and their impact on health outcomes in Saudi Arabia. Aligning such an intervention with mainstreaming models of care will strengthen NGP’s knowledge and confidence, improve clinical decisions, and patient outcomes.

Supplementary Information

Below is the link to the electronic supplementary material.

Supplementary Material 1 ^{(21.6KB, docx)}

Supplementary Material 2 ^{(23.9KB, docx)}

Author contributions

A.Z., A.E., and M.A supervised the study’s conception and design, data collection, and writing of the original draft. M.K. performed the data analysis and interpretation of the results. S.A and M.S performed data collection and wrote the original draft. All authors contributed to the manuscript’s review and approved the final draft.

Funding

A.Z received funding for this work from the University of Jeddah, Jeddah, Saudi Arabia, under grant No. (UJ-23-FR-71). Therefore, the authors thank the University of Jeddah for its technical and financial support.

Data availability

The datasets generated during and/or analyzed during the current study are available from the corresponding author upon reasonable request.

Declarations

Ethics approval

The Committee for Bioethics of Research, Medical & Scientific of the University of Jeddah reviewed and approved the study protocol and procedures under the reference number (UJ-REC-104).

Competing interests

The authors declare no competing interests.