Abstracts Presented at the 2026 Precision Oncology Saudi Summit: February 12-14, 2026, Madinah, Saudi Arabia.

In recent years, precision medicine has increased public awareness, particularly since 2020, when the COVID-19 epidemic struck almost every country in the world. Saudi Arabia is one of the affected countries, and this public health issue has affected many aspects of the country, including some key decision making in political, economic, healthcare and other major sector. Saudi Arabia is a country with the largest oil export in the world, and controlling the second largest oil reserves and the fourth largest gas reserves in the world, all these significant advantages make it occupy an important position in international relations. However, these advantages have also been a problem in the national development in the Kingdom of Saudi Arabia. For example, the revenue of the nation is too dependent on oil, resulting in uneven industrial development. With the launch of Saudi Vision 2030, the government shows its ambition in non-oil sectors and the nation also shows high interest on healthcare sector, such as precision medicine. In order to analyse the investment feasibility in precision medicine related projects in Saudi Arabia, data from different directions, such as political, economic, social and technological factors have been analysed.

Biotechnology is a transformative field with applications in healthcare, agriculture, and industry. Saudi Arabia has prioritized biotechnology under Vision 2030, aiming to diversify its economy and establish itself as a regional biotech hub. Initiatives like the Saudi Genome Program and regulatory reforms by the SFDA highlight progress, yet challenges such as workforce shortages, import dependency, and ethical concerns persist. This study examines the perceptions of biotechnology professionals in Saudi Arabia regarding sectoral progress, regulatory efficiency, and market opportunities, focusing on genetic research, precision medicine, and industrial biotechnology under Vision 2030. A descriptive-analytical design was employed, targeting 150 biotechnology researchers, industry professionals, and policymakers via purposive sampling. Data were collected through a validated Likert-scale questionnaire assessing regulatory adequacy, collaboration, local manufacturing, and import challenges. Quantitative analysis was performed using SPSS v20.0. While 40% agreed that SFDA regulations support genetic testing growth, 35.3% reported insufficient academia-industry-government collaboration. Optimism was high for local manufacturing (76.7%) and Saudi Arabia's potential as a regional biotech hub (83.4%). However, 67.3% faced import barriers, and 87.3% noted delays hindering research. Genetic data privacy concerned 55.3%, while 90.7% endorsed global partnerships for innovation. Saudi Arabia's biotechnology sector shows promise under Vision 2030, with strong potential in local manufacturing and regional leadership. However, regulatory harmonization, enhanced collaboration, and infrastructure investment are critical to overcoming import dependencies and workforce gaps. Strategic policy interventions are recommended to sustain growth and innovation.

Pharmacogenomics (PGx) leverages genomic information to tailor drug therapies, enhancing precision medicine. Despite global advancements, its implementation in Lebanon, Qatar, and Saudi Arabia faces unique challenges in clinical integration. This study aimed to investigate PGx attitudes, knowledge implementation, associated challenges, forecast future educational needs, and compare findings across the three countries. This cross-sectional study utilized an anonymous, self-administered online survey distributed to healthcare professionals, academics, and clinicians in Lebanon, Qatar, and Saudi Arabia. The survey comprised 18 questions to assess participants' familiarity with PGx, current implementation practices, perceived obstacles, potential integration strategies, and future educational needs. The survey yielded 337 responses from healthcare professionals across the three countries. Data revealed significant variations in PGx familiarity and educational involvement. Qatar and Saudi Arabia participants were more familiar with PGx compared to Lebanon (83%, 75%, and 67%, respectively). Participation in PGx-related talks was most prevalent in Saudi Arabia (96%), followed by Qatar (53%) and Lebanon (35%). Key challenges identified included test cost and reimbursement, insufficient physician knowledge, and lack of infrastructure. Lebanon reported the highest concern for test costs (16%), compared to the lowest in Saudi Arabia (5%). Despite these challenges, a strong consensus emerged on PGx's potential to improve patient outcomes, with over 86% of respondents in all three countries expressing this belief. Educational interest areas varied by country, with strong interest in PGx for cancer chemotherapy in Saudi Arabia and Lebanon and for diabetes mellitus in Qatar. This study highlights the significant influence of varied educational backgrounds and infrastructural limitations on PGx implementation across Lebanon, Qatar, and Saudi Arabia. The findings emphasize the need for targeted strategies in each country to address these distinct barriers. Integrating PGx education into healthcare training programs and clinical workflows could unlock PGx's potential to optimize patient care.

Precision medicine also called personalized medicine or individualized medicine has become a major focus of health systems over the world. It is defined by National Institute of Health (NIH) as a novel treatment and prevention method based on the understanding of individual gene, environment and life-style.(1, 2) Genetic disorders could be one of the targets to apply the precision medicine techniques. Genetic disorders are quite prevalent in Saudi population specifically autosomal recessive disorders and this is not surprising because of high rate of consanguinity.(3) There is no exact figure available on incidence of the inherited genetic disorders in Saudi Arabia, however, from the initial result of newborn screening program in Saudi Arabia for several disorders the incidence was found to be 1:1000.(4) Despite intensive education and management, these genetic disorders are still propagating in Saudi population and their burden is worsening with the progression of time.(5) The most efficient mode of prevention is the primary prevention which proposes prevention of the disease before it ever occurs. This can be achieved for genetic disorders through several modalities like perinatal genetic testing and preimplantation genetic diagnosis. Prenatal genetic testing is largely dependent on chorionic villus sampling (CVS) which is an invasive screening test that involves taking a small piece of tissue from the placenta. It is usually performed between the 10th and 12th weeks (1st trimester). CVS can be performed through the abdomen, which is called a trans-abdominal test, or through the cervix, which is called a trans-cervical test. Another type of sampling is called amniocentesis, and is performed between 14th and 16th weeks (2nd trimester). During amniocentesis, samples from the amniotic fluid, which surrounds the fetus and contains fetal cells, are collected from the uterus using a needle. Both procedures carry a small risk of fetal loss.(6) The DNA is extracted from the samples and tested for specific gene mutation found in the family. If the result appears positive, then pregnancy may be terminated before 19th weeks of gestation. The other modality is preimplantation genetic diagnosis (PGD) which is a technique used to identify genetic defects in embryos created through in vitro fertilization (IVF) before pregnancy. Both approaches show their efficiency and cost effectiveness. Genetics Division at Department of Pediatrics, King Abdullah Specialized Children Hospital, Ministry of National Guard-Health Affairs (NGHA), Riyadh, Saudi Arabia started prevention genetics program by perinatal genetic testing method in January 2016. Since then, many cases have been tested and diagnosed prenatally wherein 39% of the fetuses were confirmed to be affected with a known genetic disorder. Primary prevention was applied on 87% of the total fetuses. There is a significant increase in the volume of tested cases by 37% in 2017 compared to 2016. Therefore, the prevention rate has risen to approximately 60%. This program is a clear example of precision medicine as it involved customization of health care to prevent single genetic disorders discovered in a single family. It is cost-effective too as it appears to save 13,507,141.12 SAR annually. Such programs should be supported and funded to be a national program involving the whole Saudi Arabia rather than keeping it limited to a specific region. Prevention is the gold standard cost-effective and cost-saving measure to reduce the burden of genetic and metabolic diseases on the health care system.

Aim: There are a small number of studies about the populations' knowledge and perceptions on precision medicine in Saudi Arabia till now. Therefore, this study aimed to assess the awareness and knowledge of health care specialists about precision medicine in Saudi Arabia.
 Methodology: This study was a cross sectional study that included an online survey targeting health care specialists. The survey was converted to an online survey using google forms.
 Results: More than half of the participants have heard about the different terms of precision medicine. Most of the health care specialists in the present study said that they have an insufficient knowledge about precision medicine (68.00%). Additionally, most of them said that they are interested to learn more about precision medicine and showed a positive attitude about it.
 Conclusion: The present study found that health care specialists had a insufficient knowledge about precision medicine but they are interested to learn more about this field. Therefore, more training and awareness programs about precision medicine are needed to ease its introduction in Saudi Arabia.

Epilepsy is a common chronic neurological problem with a prevalence rate of 6.5 per 1,000 in Saudi Arabia. In the field of epilepsy genetics, the rapid pace of gene discovery has resulted in exciting advances. Clinical testing using comprehensive gene panels, exomes, or genomes is becoming more widely available, resulting in a higher diagnostic yield in early-onset epilepsies and enabling precision medicine approaches. The genetic screening techniques include comparative genomic hybridization, single-gene testing, chromosomal analysis, epilepsy panel testing, whole-exome sequencing (WES), and whole-genome sequencing. It is essential to know the classification of genetic epilepsies to choose the appropriate genetic test for its differential diagnosis. Although there have been various classifications reported by different groups, the most acceptable one is to classify them based on type of epilepsy, type of gene involvement, and age of onset of epilepsy. The diagnosis of genetic epilepsies helps the treating physician determine the prognosis, select the appropriate medications, and avoid certain medications that may exacerbate epilepsy. In Saudi Arabia, recently genetic tests have been made available in many centers. Various research groups have discovered and reported a wide range of genes, especially pediatric neurologists, geneticists, and neurogenetics across the Kingdom. The availability of WES due to its cost-effective nature is another reason for the advancement in epilepsy screening in the Kingdom. The present review aims to discuss the genetic testing of epilepsy, classification of genetic epilepsies, epilepsy genetics in Saudi Arabia, and the future of epilepsy genetics in Saudi Arabia.

Introduction: Molecular Tumor Boards (MTB) are essential in Precision Oncology Programs. Gaps, however, remain in interpreting comprehensive genomic profiling (CGP) results, and determining their actionability. Our MTB, established in October 2020 and conducted at a tertiary cancer center in Saudi Arabia, focused on discussing patients with complex CGP results and recommending genomic based therapies. Meetings occurred virtually, every month, with oncologists, pathologists and genomicists attending. Methods: This is a retrospective cohort study of patients discussed in our MTB from October 2020 till October 2022. We report the outcomes of these patients who had progressive disease on standard of care (SOC) therapies, and have had non Tier 1 alterations (ESCAT classification) in their CGP reports. We chose an FDA approved, commercially available CGP, which tests 324 genes (FoundationOne CDX). We present the demographics, clinical characteristics, CGP results, recommendations of the MTB, and patient outcomes. Results: Sixty patients fitting the criteria above have been discussed. Median number of prior systemic therapy lines was 2 (range 0-8). The most common primary diagnosis was soft tissue sarcoma (25%), followed by liver and pancreato-biliary cancers (20%), followed by head and neck cancers (15%) and skin cancers (8%). Of the 60 patients, 48 patients had response evaluations. Thirty five patients (out of 48, 73%) have had recommendations for genomic based therapies based on their CGP results. Only 16 patients (out of 35, 46%) received MTB recommended therapies. Eight patients (out of 16, 50%) have remained progression free and on MTB recommended genomic therapy for 6 months and above. The commonest reasons for not receiving MTB recommended therapy were patient clinical deterioration or death (9 patients, 47%) followed by patients responding on current line of therapy (7 patients, 37%). Most common pathogenic targetable alterations were CDKN2A/B mutations (6 patients), followed by alterations in FGFR (5 patients), PTEN (4 patients), BRAF (4 patients), PIK3CA (2 patients) and ERBB2 (2 patients) followed by others (will be presented). Conclusion: Following recommendations, of the first MTB in Saudi Arabia, resulted in improved outcomes of cancer patients who had progressive disease on SOC therapies. Consideration of performing CGP and discussing patients early in their cancer journey may allow them to receive, and benefit from recommended genomic therapies earlier. Citation Format: Kanan Alshammari, Fouad Sabatin, Mehlika Hazar-Rethinam, Faizah Alotaibi, Reham Ajina, Hussam Shehata, Mohammad Alkhayyat, Abdullah Alsaleh, Mohammed Algarni. Outcomes of molecular tumor board recommendations for cancer patients with progression on standard of care therapies in Saudi Arabia [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2023; Part 1 (Regular and Invited Abstracts); 2023 Apr 14-19; Orlando, FL. Philadelphia (PA): AACR; Cancer Res 2023;83(7_Suppl):Abstract nr 938.

Artificial intelligence (AI) stands at the forefront of revolutionizing healthcare, wielding its computational prowess to navigate the labyrinth of medical data with unprecedented precision. In this study, we delved into the perspectives of medical students in the Kingdom of Saudi Arabia (KSA) regarding AI's seismic impact on their careers and the medical landscape. A cross-sectional study conducted from February to December 2023 examined the impact of AI on the future of medical students' careers in KSA, surveying approximately 400 participants, including Saudi medical students and interns, and uncovering a fascinating tapestry of perceptions. Astonishingly, 75.4% of respondents boasted familiarity with AI, heralding its transformative potential. A resounding 88.9% lauded its capacity to enrich medical education, marking a paradigm shift in learning approaches. However, amidst this wave of optimism, shadows of apprehension loomed. A staggering 42.5% harbored concerns of AI precipitating job displacement, while 34.4% envisioned a future where AI usurps traditional doctor roles. Despite this dichotomy, there existed a unanimous recognition of the symbiotic relationship between AI and human healthcare professionals, heralding an era of collaborative synergy. Our findings underscored a critical need for educational initiatives to assuage fears and facilitate the seamless integration of AI into clinical practice. Moreover, AI's burgeoning influence in diagnostic radiology and personalized healthcare plans emerged as catalysts propelling the domain of precision medicine into uncharted realms of innovation. As AI reshapes the contours of healthcare delivery, it not only promises unparalleled efficiency but also holds the key to unlocking new frontiers in treatment outcomes and accessibility, heralding a transformative epoch in the annals of medicine.

IntroductionArtificial Intelligence (AI) is transforming healthcare service delivery through predictive analytics, precision medicine, and advanced diagnostics. However, the commodification of health data introduces complex ethical and social challenges related to privacy, ownership, and consent. This study explores perceptions of health data commodification within AI-driven healthcare systems, focusing on Saudi Arabia’s rapidly evolving digital healthcare landscape.MethodsA mixed-methods approach was employed, combining quantitative surveys and in-depth qualitative interviews. The study included 42 patients, 8 healthcare professionals, 3 insurance representatives, and 4 AI experts. Data were collected across three main themes: data privacy, perceived benefits of AI, and attitudes toward data commodification. Quantitative data were analyzed descriptively, while qualitative responses were examined thematically.ResultsFindings reveal that 61.9% of patients consider health data a form of personal property, while 59.5% feel they have limited control over how their data are used. A significant trust deficit was observed, with 50% expressing low confidence in AI systems’ ability to protect privacy, particularly among older participants. Financial incentives strongly influenced willingness to share data, with 81% agreeing to share their data if compensated. Furthermore, 64.3% supported the sale of anonymized data by healthcare providers to technology companies, provided adequate safeguards are in place.DiscussionThese insights underscore the urgent need for robust regulatory frameworks emphasizing informed consent, transparency, and ethical governance in AI healthcare systems. The study highlights the importance of patient-centered policies, equitable compensation mechanisms, and enhanced training and awareness programs to build public trust and ensure responsible AI adoption. By addressing these ethical and governance challenges, policymakers can align technological innovation with equity, privacy, and the principles of ethical healthcare delivery.

Background: Biobanking is a critical cornerstone of the global shift towards precision medicine (PM). This transformation requires smooth and informed interaction between a range of stakeholders involved in the healthcare system. In Saudi Arabia, there is still insufficient awareness of the importance of biobanking and its potential benefits for patients, the healthcare system, and society as a whole. The purpose of this study was to determine the biobanking knowledge of Saudi healthcare providers and the potential factors that might influence their self-reported attitudes toward biospecimen donation and biobanking. Methods: A cross-sectional study was conducted targeting 636 healthcare providers in Makkah province using a structured, self-administered questionnaire. Results: The study had a response rate of 61%. The mean knowledge level about biobanks was 3.5 (±1.8) out of 7. About one-third of the participants were aware of the Human Genome Project (HGP) (35%) or the term “biobank” (34%). The mean rating of their attitude was 37.3 (±4.3) out of 55. Most participants (74%) had a positive attitude toward medical research. Job position, general health, previous blood tests, knowledge of biobanking, and attitudes toward biomedical research were significantly related and predictors of willingness to donate biospecimens (p < 0.05). However, concerns about biospecimen misuse and confidentiality were the main reasons for not donating biospecimens. Conclusions: This study has shown that healthcare providers mostly lack basic knowledge about HGP and biobanks and their roles and activities, and therefore are generally disinclined to actively participate in biospecimens’ collection and management. It is recommended that medical trainees receive more education and awareness about biobanks and the latest personalized healthcare approaches to improve translational research outcomes and achieve precision medicine.

In order to plan and facilitate the culture of personalized / precision medicine in medical practices within any healthcare institution, it is requisite for healthcare professionals like clinicians to have a clear understanding and approach towards the practices of personalized genetic testing. This nationwide cross-sectional study aimed to measure the perceptions and knowledge of clinicians towards personalized genetic testing and assess their current practices of personalized genetic testing in clinical settings through an online self-administered questionnaire in Saudi Arabia. The results of the study revealed that almost two-fifths of participants were responsible for ordering genetic tests directly (39.0%). The main concerns of the participants were the lack of clinical practice guidelines on personalized genetic tests (50.0%) and the cost of these tests (50.9%). The participants revealed that the genetic tests had influenced the patients’ treatment plans (50.0%) and helped them understand the risks of their patients’ disorders (52.3%). The study revealed a gap in understanding and implementing personalized genetic testing in Saudi Arabia, with enthusiasm tempered by challenges like insufficient knowledge, lack of guidelines, and practical applications’ barriers. Effective integration of genetic testing into clinical practice should focus on enhancing medical education, developing clinical guidelines, and improving patient awareness about genetic tests that can lead to an improved personalized healthcare approach.

The 17th Annual Congress of the Asian Society of Pediatric Oncology (SIOP Asia) was held in Riyadh, Saudi Arabia, from April 12 to 15, 2025, marking its first hosting in the Kingdom. Organized in collaboration with the Saudi Pediatric Hematology Oncology Society and global partners, the congress convened over 500 delegates from 45 countries under the theme "Stronger Together." The scientific program featured nearly 70 invited speakers across five tracks: hematologic malignancies, solid tumors, neuro-oncology, precision medicine, and survivorship alongside multidisciplinary sessions in surgery, radiation oncology, nursing, and pharmacy. A total of 347 abstracts from 34 countries were submitted; 267 were accepted as posters, and 17 as oral presentations. Education Day, organized through SIOP's Disease-Specific Portal for Learning and Networking (DiSPLeN), provided case-based training to over 200 delegates comprising fellows along with junior and senior multidisciplinary participants emphasizing applicability in low-resource settings. Key congress themes included improving diagnostic equity, access to essential medicines, and strengthening regional research capacity. Presentations highlighted molecularly driven diagnostics such as FOXO1 fusion testing in rhabdomyosarcoma and LOGIC assays for constitutional mismatch repair deficiency, with emphasis on affordable applications in low- and middle-income countries (LMICs). Access to chemotherapy was addressed through the WHO/St Jude Global Platform for Childhood Cancer Medicines, offering sustainable, centralized procurement for LMICs. The need for expanded multicenter clinical trials was underscored, with initiatives such as the Asian Pediatric Hematology and Oncology Group, SIOP's Programme for Advancing Research Capacity, and collaborative tumor boards providing frameworks for progress. Surgical and radiation oncology sessions showcased pragmatic adaptations of advanced technologies, whereas survivorship and genetics sessions highlighted cancer predisposition syndromes and long-term quality-of-life challenges. The Riyadh congress reaffirmed that survival disparities in Asia are driven by addressable inequities. By advancing diagnostics, medicines, registries, and collaborative trials, SIOP Asia and its partners demonstrated a pathway toward narrowing the survival gap.

BackgroundThe landscape of oncology varies across countries and regions, and in consanguineous populations such as Saudi Arabia, the clinical management of hereditary cancers poses a distinct challenge. Hereditary breast cancer (HBC), which is a significant public health concern, accounts for approximately 5%–10% of all breast cancer cases. High-risk genes, including BRCA1, BRCA2, PALB2, TP53 and PTEN, with germline pathogenic or likely pathogenic variants (PVs/LPVs), substantially increase the risk of breast cancer and other malignancies.MethodIn this review, we explore the guidelines and the literature to present a comprehensive investigation of the genetic landscape of hereditary cancer syndromes, provide pivotal insights into disease mechanisms and inform precise clinical intervention. Given their marked therapeutic heterogeneity, a tailored precision medicine approach, rather than a uniform strategy of a one-size-fits-all model, is necessary. For high-risk breast cancer patients in Saudi Arabia, the detection rates of PVs/LPVs have reached 24%, underscoring the relevance of targeted interventions.ResultsA comprehensive framework for the management of HBCs is outlined, which focuses on consanguineous populations and adapts global guidelines. We highlight the critical roles of genetic testing in guiding personalised surveillance strategies, especially for regions where data remain limited.ConclusionRevealing the genetic variation associated with HBCs mitigates the burden on healthcare providers and the long-term effects of HBCs on affected individuals and their families. Moreover, it is a step ahead towards personalised prevention, treatment and intervention. This knowledge will empower research and innovation in biotechnology.

Background/Objectives: To assess the knowledge, attitudes, and practices of ophthalmologists in Saudi Arabia towards genomic medicine and genetic testing, in light of the growing significance of genomics in ophthalmology and the national transition towards precision medicine. Methods: A cross-sectional, questionnaire-based survey was conducted among ophthalmologists, including consultants, specialists, fellows, and residents, across Saudi Arabia. The questionnaire included four domains: demographics, knowledge of genomic principles and gene therapy, self-rated confidence in genetic tasks (scored 1–10), and attitudes toward genetic testing. Data were analyzed using descriptive and inferential statistics, with subgroup comparisons performed using chi-square tests and t-tests/ANOVA. Results: A total of 115 ophthalmologists participated (46% male, 54% female; mean age 34 years; mean post-board experience 4 years). Most were consultants (40%) and practiced in Riyadh (52%). Knowledge was variable: 92% correctly identified human chromosome count, and 99% recognized autosomal recessive inheritance, but only 9% answered DNA base-pairing correctly, and 54% recognized mitochondrial inheritance. Confidence was highest for referral to specialists (mean 7.3/10) and lowest for test selection and counseling (4.7/10). The internet was the primary knowledge source among our sample (65%). The majority of individuals had positive attitudes towards genomic medicine: 90% believed testing was beneficial, 89% considered it enhanced health outcomes, and 89% indicated they would undergo testing themselves. On the other hand, 77% indicated difficulty in access, 91% strongly concurred on the significance of privacy and confidentiality, and more than half expressed concerns regarding misuse and bias. Conclusions: Ophthalmologists in Saudi Arabia acknowledge the importance of genetics. Yet, there are substantial gaps in knowledge and familiarity with genomic medicine and genetic testing. To overcome these challenges, it is essential to integrate genetics into ophthalmology curricula.

Stratification of colorectal cancer for better management and tangible clinical outcomes is lacking in clinical practice. To reach this goal, the identification of reliable biomarker(s) is a prerequisite to deliver personalized colorectal cancer theranostics. Osteopontin (SPP1) is a key extracellular matrix protein involved in several pathophysiological processes including cancer progression and metastasis. However, the exact molecular mechanisms regulating its expression, localization, and molecular functions in cancer are still poorly understood. This study was designed to investigate the SPP1 expression profiles in Saudi colorectal cancer patients, and to assess its prognostic value. Hundred thirty-four (134) archival paraffin blocks of colorectal cancer were collected from King Abdulaziz University Hospital, Saudi Arabia. Tissue microarrays were constructed, and automated immunohistochemistry was performed to evaluate SPP1 protein expression patterns in colorectal cancer. About 20% and 23% of our colorectal cancer samples showed high SPP1 cytoplasmic and nuclear expression patterns, respectively. Cytoplasmic SPP1 did not correlate with age, gender, tumor size, and location. However, significant correlations were observed with tumor grade (p = 0.008), tumor invasion (p = 0.01), and distant metastasis (p = 0.04). Kaplan-Meier survival analysis showed a significantly lower recurrence rate in patients with higher SPP1 cytoplasmic expression (p = 0.05). At multivariate analysis, high SPP1 cytoplasmic expression was an independent favorable prognostic marker (p = 0.02). However, nuclear SPP1 expression did not show any prognostic value (p = 0.712). Our results showed a particular SPP1 prognostic relevance that is not in line with most colorectal cancer previous studies that may be attributed to the molecular pathophysiology of our colorectal cancer cohort. Saudi Arabia has both specific genomic makeup and particular environment that could lead to distinctive molecular roots of cancer. SPP1 has several isoforms, tissue localizations and molecular functions, signaling pathways, and downstream molecular functions. Therefore, a more individualized approach for CRC studies and particularly SPP1 prognosis outcomes' assessment is highly recommended toward precision oncology.