FROM VISION TO REALITY: HOW SAUDI ARABIA IS SURGING AHEAD IN GENOMIC MEDICINE

Dr. Ahmed Alfares , Deputy Executive Director at King Faisal Specialist Hospital’s Centre for Genomic Medicine, shares insights into the Kingdom’s remarkable journey, highlighting advancements in next-generation molecular genetics sequencing and the pioneering focus on large-scale exome and genome testing.

Special Feature Courtesy Saphetor

Senior consultant Dr. Ahmed Alfares serves as the Deputy Executive Director at the Centre for Genomic Medicine at King Faisal Specialist Hospital and Research Centre, KSA. He is currently leading the development of a next-generation molecular genetics sequencing lab, focusing on large-scale exome and genome testing.

What is the targeted impact of genomic medicine as part of the Kingdom of Saudi Arabia’s Vision 2030? Are there any key deliverables or objectives that you are collectively trying to achieve to advance healthcare?

Genomic medicine is poised to revolutionise healthcare in Saudi Arabia as part of Vision 2030. Our primary objective is to harness genomic data to enhance disease prevention, diagnosis, and treatment. By integrating genomics into healthcare, we aim to provide personalised and precise medical solutions, ensuring the well-being of the Saudi population. Key deliverables include advancing genetic research, establishing efficient genetic testing and counselling services, and integrating genomic data into clinical decision-making processes, ultimately improving patient outcomes, and reducing the burden on the healthcare system.

What is the current state of healthcare in the Kingdom, and how will it be impacted by the growth and integration of genomic medicine approaches?

Currently, healthcare in Saudi Arabia is robust, but genomics will elevate it to unprecedented levels. Genomic medicine will enable early disease detection, tailored therapies, and personalised medicine. This approach will transform healthcare from a reactive model to a proactive, predictive, and preventive system. It will empower healthcare providers with valuable insights, leading to more accurate diagnoses, targeted treatments, and improved overall healthcare outcomes for patients.

What lessons have you learned from genomic medicine programmes in other countries that have helped shape your approach?

Learning from other countries, we understand the significance of multidisciplinary collaboration. Collaborative efforts between geneticists, clinicians, bioinformaticians, and policymakers are crucial. Additionally, data privacy and security, along with effective patient and clinician education, are paramount. By integrating these lessons, we ensure our genomic medicine program is ethically sound, inclusive, and technologically robust.

What barriers to integration have you observed that other countries have encountered?

Several challenges have hindered integration in other countries, including fragmented healthcare systems, lack of standardised protocols, insufficient genetic literacy among healthcare professionals and the public, and limited reimbursement for genetic services. Overcoming these challenges demands comprehensive education, policy reforms, and international collaboration to establish standardised practices and ensure equitable access to genomic healthcare services.

"The convergence of visionary leadership, increasing genetic literacy, technological advancements, and the availability of genomic data uniquely positions the Kingdom for genomic medicine integration.”

What aspects of the current status of genomic technologies in the Kingdom suggest that now is the moment to propel forward Vision 2030, with genomic medicine playing a significant role?

Saudi Arabia boasts a robust healthcare infrastructure and a vision for technological advancement. The convergence of visionary leadership, increasing genetic literacy, technological advancements, and the availability of genomic data uniquely positions the country for genomic medicine integration. The Kingdom’s commitment to research and development aligns perfectly with the transformative potential of genomic medicine.

For you personally, what makes you excited about bringing the Kingdom to the forefront of genomic medicine?

I am driven by the potential to transform lives. Genomic medicine allows us to decode the mysteries of diseases, offering personalised solutions and empowering individuals and families. Witnessing the positive impact of our work on patients fuels my excitement and confidence. Moreover, the support from the leadership and the dedication of our team strengthen my belief in our ability to lead Saudi Arabia into a genomic medicine-driven future.

What are the most important enabling technologies that you rely on?

Sequencing technologies are pivotal. High throughput sequencing enables us to analyse vast genomic data efficiently. Additionally, bioinformatics tools like VarSome play a vital role in interpreting variants, ensuring accurate diagnoses, and guiding treatment decisions.

Are there technologies that you feel might have a s ignificant impact on genomic healthcare in the near future? Is there anything coming up that excites you from a technology standpoint?

Long-read sequencing technologies are incredibly promising. They offer comprehensive insights into complex genomic regions, improving diagnostic accuracy and reducing the time and cost of diagnoses. Furthermore, advancements in single-cell sequencing and CRISPR-based gene editing techniques, multi-omics approaches are exciting, promising more targeted and effective therapies.

What kind of impact do you think long-read sequencing technologies might have on improving diagnostic yield, as well as speed and cost of a diagnosis?

Long-read sequencing technologies significantly enhance diagnostic yield by capturing large structural variants and complex genomic rearrangements. Their ability to provide more complete and accurate genomic information expedites diagnosis, enabling timely interventions. Although initial costs might be higher, the comprehensive data they provide can ultimately reduce overall healthcare expenses by minimising unnecessary tests and treatments.

What do you think could be the impact of the work happening in the Kingdom of Saudi Arabia on global health?

Saudi Arabia’s genomic initiatives contribute valuable data from diverse populations, enriching our understanding of genetic variations globally. This data is instrumental in advancing precision medicine worldwide, especially in underrepresented populations. Additionally, by setting high standards in genomic research and healthcare, Saudi Arabia serves as a model for other nations, inspiring advancements in their healthcare systems.

What would you like to see in 2024?

I would like to emphasise the importance of international collaboration. Genomic research knows no borders, and by working together, we accelerate scientific discoveries, and enhance healthcare outcomes globally. Furthermore, public engagement and genetic literacy are integral. Educating the public about genomics ensures informed decision-making, fosters trust, and promotes inclusivity in genomic healthcare services.

Learn more at landing.varsome.com/varsome-clinical.

Interested to know more?

To learn how healthcare is being redefined in the GCC and MENA region, read the full magazine here

Published in PrecisionMed International magazine