Using Next-Generation Sequencing to Understand Disease

How time flies: it seems almost impossible that the many events of 2003 are now almost ten years in the past. It's also hard to believe that the completion of the Human Genome Project, a government-led initiative involving researchers from all around the world, was nearly a decade ago. In addition, the way next-generation sequencing technology has developed in the past decade is almost unbelievable.

The Human Genome Project, for example, cost just under $3 billion and took thirteen years to complete. Nowadays, a person can have their genome sequenced in mere months for several thousand dollars. At CHOP, next-generation gene sequencing technologies are being used all the time to better understand and treat childhood disease.

A recent article in the trade publication Clinical Lab Products examined the development and potential impact of next-generation sequencing technologies. Next-generation sequencing "seems poised to deliver on the potential shift in paradigm that will truly enable precise diagnosis, personalized medicine, and preventive care," the article says.

The article featured input from CHOP's PhD, scientific director of the Molecular Genetics Laboratory. Led by PhD, the Molecular Genetics Laboratory provides "DNA-based diagnostic testing for genetic disorders affecting children and adults."

"In the future, I can see that the application of next-generation sequencing for the diagnosis of genetic diseases in children and adults will find widespread use across clinical genetics labs," noted Dr. Santani.

A recent example is CHOP's partnership with Shenzhen, China-based BGI to analyze pediatric brain tumors as part of the Childhood Brain Tumor Tissue Consortium. The researchers use next-generation sequencing to gain a deeper understanding of the tumors' genetics, with the ultimate goal of developing highly targeted therapies.

"Genetic testing using NGS could be cost-effective, rapid, and comprehensive. Ten years from now, as the technology improves, sequencing the human genome could very well be a routine test," Dr. Santani said. "The amount of data generated by next-gen sequencing is unprecedented."