DNAdigest readers, this week I am happy to present you to the Saudi Human Genome Project (SHGP). Our interviewee is Shazia Naz Subhani, who is the project manager. Take a look at what exactly this interesting project is all about and how this will benefit the healthcare system in the Saudi Arabia Kingdom.


Shazia Naz Subhani, Senior Technical Specialist and Project Manager of the Saudi Human Genome Program

1. Could you please explain what the Saudi Human Genome Project is about?

The Saudi Human Genome Projects is a specific effort to solve genetic disease in the Kingdom, to lay the foundation for the development of Personalized Medicine and establish capacity for the Genomics industry more broadly.
This is envisioned as a 5 year project to find the genes responsible for the genetic diseases that impact the Kingdom, by reading (often called “sequencing”) the genomes of 100,000 subjects, representing both the general population, and all rare and common diseases with a genetic component.
This will be one of the largest disease gene discovery project ever undertaken, and will therefore also establish the Kingdom as a world leader in disease genetics research and Personalized Medicine.
This project will be funded and organized by the King Abdulaziz City for Science and Technology (KACST), and will involve the creation of a national network of Genome Centers to recruit subjects and perform the sequencing work, as well as a centralized KACST Knowledgebase to store the resulting information on disease genes and make this available to enable future diagnostic screening efforts, which is the first major step in realizing Personalized Medicine.


2. What is your role in the project and how does your background support its mission?

I believe that my strong background as an IT specialist and manager for disease registries have created the opportunity of serving Saudi Human Genome Program where I was given initially the assignment as the Project Manager to handle major facets of the Saudi Genome Project execution at KFSH&RC and other IT related responsibilities like design and development of the:
• Saudi Human Genome Program (SGP) website
• Web-based Sample Registration System
• SGP Inventory System
• Committee Blog
• Data Management and Analysis
• User trainings
Currently, I am more occupied with the Bioinformatics of the program and user support for the designed applications.


3. Can you tell us why creating of a Human Genome Project particularly in the Kingdom of Saudi Arabia is so important?

This project will identify normal and disease causing genetic variants in the Saudi people. Knowing the genetic basis of disease enables Personalized Medicine for the Kingdom. Unique disease causing variants for severe rare genetic diseases are prevalent in the Kingdom and need to be identified within the Saudi population to facilitate diagnosis and prevention.
Common diseases including Diabetes and Cardiovascular Disease are highly prevalent and may have different genetic risk factors in Arab populations than in other ethnic groups. Identification of these factors Characterization of the Saudi population requires local research efforts. Once the genetic bases of these diseases are characterized, they are preventable.
The Saudi Human Genome Project is focused on the Saudi population to address these requirements.


4. Your goal is the mapping 100,000 genomes in the Kingdom. We see you have divided your work into smaller sub-projects such as working on Diabetes, Deafness, Cardiovascular diseases etc. What other disease areas do you plan to go after in the future? In your opinion, what will be in next big step to be undertaken for this project?

Our plans is to address the following disease areas under SGP as well:
• Diabetic Retinopathy
• Primary Immunodeficiency Diseases
• Endocrine
• Dysmorphia-Dysplasia
• Cancer
• Pharmacogenomics

The next big step; which is already underway is; more national level collaborations and publications of genomic findings.


5. What have been the considerations for data sharing for the Saudi Human Genome Project for internal versus external use of your data? How do you plan to manage this?

King Abdulaziz City for Science and Technology has plans of creating a National Knowledgebase of Genetics Findings. These finding may be shared with the international community through other genome programs. The precise nature of this is still under discussion.


6. What will be the impact of the Saudi Human Genome Project for the healthcare system in the Kingdom?

The Saudi Human Genome Project is a central component for realizing personalized medicine in the Kingdom. It will provide information for better diagnosis, treatment and prevention of diseases with a hereditary component. In addition it will facilitate national knowledge transfer and capacity building in the field of molecular genetics.

Saudi Human Genome Project

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