Rare Disease Day, celebrated annually on the last day of February, is a global event aiming to raise awareness about rare diseases and their impact on patients' lives. Today we shed light on the rare condition alpha thalassemia, an inherited blood disorder caused by mutations in the alpha-globin gene cluster, affecting hemoglobin production and leading to severe anemia and other complications. In the Middle East and North Africa region, alpha thalassemia is particularly prevalent and stands as one of the most common monogenic diseases. Genetic testing has therefore become crucial for identifying at-risk individuals early, enabling timely interventions and improved health outcomes. 

In this interview, we invite Dr. Ashraf Dallol, the Senior Laboratory Director at NoorDx, to share his vital work in the field of alpha thalassemia research, as well as his experience utilizing cutting-edge genomic technology from MGI to address the prevalent rare condition.

Genetic Testing: A Beacon of Hope for Patients and Families

Q:What inspired the creation of NoorDx? Can you share insights into the genomics landscape in Saudi Arabia at that time and the public's understanding of genetic testing?

A: NoorDx was established to address the critical gap in genetic testing within Saudi Arabia. The inspiration stemmed from the increasing incidence of genetic disorders and the lack of accessible testing options. At that time, the genomics landscape in Saudi Arabia was nascent, with limited public awareness of genetic testing. Our goal was to educate the community and provide tailored solutions to empower patients and clinicians alike.

Q: NoorDx was created by Saudis for Saudis. How does this resonate with local clinicians and patients?

A: NoorDx resonates deeply with local clinicians and patients as it is designed by Saudis for Saudis. This local ownership fosters trust and understanding. Clinicians appreciate the culturally relevant approaches and the accessibility of services, while patients benefit from personalized care that considers their unique genetic backgrounds."

Q: Why is genetic testing particularly critical for Saudi Arabia and the broader MENA region?

A: Genetic testing is crucial in Saudi Arabia and the broader MENA region due to the high prevalence of inherited conditions, influenced by genetic diversity and consanguinity. By implementing genetic testing, we can identify at-risk individuals early, enabling timely interventions and improved health outcomes.

Q: Why did NoorDx prioritize the development of a diagnostic tool for hereditary disorders? What key challenges did you face during this process?

A: NoorDx prioritized the development of diagnostic tool for hereditary disorders due to its high prevalence in our population. Key challenges included ensuring accuracy and reliability in testing, as well as navigating regulatory approval processes. Our commitment to overcoming these barriers has led to significant advancements in patient care and facilitated the diagnosis of many congenital disorders.

Q: How many human samples have you tested so far, and what demographics or patient groups do they represent?

A:To date, we have tested over 1,000 human genetic samples, representing a diverse demographic, including children, adults, and various ethnic groups. This broad representation allows us to gather valuable data on genetic variations within the population.

Q: How does genetic testing contribute to targeted treatments and precision medicine in rare disease management?

A: Genetic testing plays a pivotal role in precision medicine by enabling targeted treatments based on individual genetic profiles. This approach not only enhances treatment efficacy but also minimizes adverse effects, leading to better patient management in rare diseases.

Collaboration with MGI: Searching for a Trusted Technology Partner

Q: Could you explain the role of next-generation sequencing technology in diagnosing rare diseases?

A: Next-generation sequencing (NGS) technology has revolutionized rare disease diagnosis by allowing simultaneous analysis of multiple genes. This capability enhances our ability to identify genetic anomalies quickly and accurately, which is vital for timely treatment decisions."

Q:How is MGI’s G400 sequencing platform integrated into your processes? Do you have any validation data showcasing its performance?

A: We integrate MGI’s G400 sequencing platform into our workflow for its advanced capabilities in high-throughput sequencing. Validation data indicate its superior performance in accuracy and speed, which has greatly improved our diagnostic processes.

Q: What happens after patients receive their results? How does this information influence healthcare decisions?

A: After receiving their results, patients are guided through a comprehensive counseling process. This information is crucial for making informed healthcare decisions, including treatment options and family planning, ensuring they feel supported throughout their journey.

Q: Have you followed any patient journeys after testing? Could you share any impactful stories or testimonials?

A: We’ve followed several patient journeys, one of which involved a young patient diagnosed with a hereditary disorder who received early intervention which lead to improved prognosis. The story highlights the profound impact of timely genetic testing, as she now leads a healthy life thanks to targeted treatment.

Outlook for NoorDx: Committed to Finding Solutions

Q: What other diagnostic efforts or rare disease projects is NoorDx currently involved in? Have there been recent advancements with MGI’s platform?

A:Currently, NoorDx is engaged in several projects, including the development of diagnostic tests for other rare genetic conditions. Recent advancements with MGI’s platform have enabled us to expand our testing capabilities significantly, including introducing transciptomics in the diagnosis of hereditary disorders.

Q: What’s next for NoorDx? Any exciting plans on the horizon?

A: Looking ahead, NoorDx plans to introduce additional genetic tests and enhance our services through innovative technologies, e.g. long read sequencing, single-cell omics. We aim to stay at the forefront of genetic research, continuously improving patient outcomes.

Q: How do you envision furthering your collaboration with MGI?

A: We envision deepening our collaboration with MGI by exploring joint research initiatives and sharing expertise in genetic testing technologies. This includes the introduction of single-cell transcriptomics and long-read sequencing. This partnership is critical for advancing the field of genomics in our region.

Q: What advancements do you foresee shaping the rare disease diagnostics landscape in the next 5 to 10 years?

A: In the next 5 to 10 years, we anticipate significant advancements in sequencing quality and throughput which we expect MGI to be at the forefront of such advancements.  Further advances will be in expanding gene editing technologies for the treatment of monogenic diseases and the widespread utilization of artificial intelligence in diagnostics. These trends will likely transform the landscape of rare disease diagnostics, making it more efficient and accessible.

Q: What do you see as the most significant barriers to advancing clinical rare disease diagnostics and treatment today?

A:The most significant barriers to advancing clinical rare disease diagnostics include limited funding for research, the need for greater public awareness about genetic testing, and navigating regulatory frameworks. Addressing these challenges is essential for improving care in this field.