Single-gene disorder risk screening can impact personalized medicine as well as our understanding of rare genetic disorders
While precision medicine screening is by its very definition personalized, a recent technological breakthrough coming out of Weill Cornell Medicine adds another layer of personalization that not only provides personalized genetic information for each person being tested, but tailors this screening to be specific for a particular human population.
A team of researchers from Weill Cornell Medicine, Weill Cornell Medicine-Qatar, and the Qatar Foundation have developed a computer chip—called the QChip1—which provides low-cost genetic screening specifically designed for citizens of Qatar (known as Qataris).
The new precision medicine tool—which includes QChip Browser, “an online resource hub for sharing of documentation, data, and code related to the QChip genomics knowledgebase and genotyping microarray for precision medicine in Qatar”—tests blood samples for more than 80,000 different potential genetic variations in Qataris. The QChip1, which costs less than $100 and highlights genes linked to heritable diseases, is intended for use as a population-level genetic screening program for the Qatari people.
QChip1 is “an inexpensive genotyping microarray to comprehensively screen newborns, couples, and patients for SGD [single-gene disorder] risk variants in Qatar, a small nation on the Arabian Peninsula with a high degree of consanguinity,” the researchers wrote in their paper published in the Nature partner journal Genomic Medicine, titled, “The QChip1 Knowledgebase and Microarray for Precision Medicine in Qatar.”
Ideal Genetic Screening for Qataris
“Qatar is a good candidate for comprehensive and population-specific screening,” Weill Cornell Medicine noted in its press release. “It is a small country on the Persian Gulf where, in the native population, intra-clan marriage is the norm and about a third of marriages are between first cousins—which means that marriages often bring together two people who carry the same SGD risk variant inherited from a shared ancestor. There are only about 300,000 Qataris.”
The QChip1 ultimately offers an ideal genetic screening tool for Qataris. Co-first author Amal Robay, PhD, an assistant professor of research in genetic medicine at Weill Cornell Medicine-Qatar, noted in the press release that “The genomic database of the Qatari population and the QChip technology provide an extremely accessible, low-cost, and powerful resource for reducing the incidence of a wide variety of inherited diseases.”
This technological advancement has multiple precision medicine implications for the small nation of Qatar and its neighbors. “The QChip1 screening array marks several key milestones for Qatar,” explained study co-author Khalid Fakhro, PhD, Chief of Research at Sidra Medicine in a Doha News article.
“First, it represents a significant outcome of Qatar’s early investment in generating genomic knowledge on our population,” Fakhro continued. “Second, this array is a first for the region, and can be adopted by neighboring countries whose populations share ancestry (and disease mutations) with ours. And finally, it demonstrates the strength of collaboration across the biomedical research community in Qatar, as this truly took a multi-stakeholder effort over several years to achieve a viable product, which will completely transform disease screening for future generations.”
Screening Implications for Nations Worldwide
While the people of Qatar will certainly benefit from the availability of the QChip1, the population-specific genetic screening approach has implications that will affect countries around the world.
“[Single-gene disorder] risk screening has a lot of potential, not only clinically for personalized medicine and family planning, but also scientifically for understanding rare genetic diseases,” said co-author Juan Rodriguez-Flores, PhD, assistant professor of research in genetic medicine at Weill Cornell Medicine in New York.
“But as this study shows,” he continued, “the development of such tools going forward is going to require genomic databases and screening technologies that are tailored for distinct ancestry groups—and for most groups those tools don’t yet exist.”
Thus, Weill Cornell Medicine’s QChip1 demonstrates the importance of continued development in precision medicine genetic screening for population health, and how routine personalized screening can be implemented with a population-level approach.
By developing population-specific genetic screens, medical providers in all nations will be better able to provide precision medicine care for individuals with specific healthcare conditions.
—Caleb Williams
Related Information:
The QChip1 Knowledgebase and Microarray for Precision Medicine in Qatar
Researchers in Qatar Develop Advanced Screening Tool for Genetic Diseases