Detecting Rare Genetic Diseases In Under 30 Minutes

By combining the patient’s symptoms with his or her genetic information, the Phen-Gen tool can quickly detect faulty genes.

AsianScientist (Aug. 25, 2014) – A team of scientists has developed Phen-Gen, the first computer analysis software that cross-references a patient’s symptoms and a person’s genome sequence. The results from the research have been published in the journal Nature Methods.

Phen-Gen can detect faulty genes responsible for diseases by up to 88 percent, yielding results in 15 to 30 minutes. It has been proven to be faster and more efficient compared to current methods analysing genomes for this purpose.

Led by Dr. Pauline Ng from the Genome Institute of Singapore (GIS) under the Agency for Science, Technology and Research (A*STAR), the team is currently working on is incorporating the Phen-Gen technique in the diagnosis of rare diseases. Rare diseases are often hard to diagnose based on symptoms alone. By using Phen-Gen, doctors are able to make a more accurate diagnosis based on a patient’s unique genetic code.

“We aim to translate scientific research to help people directly,” said Dr. Ng, who was the senior author of the study. “To this end, GIS has created a program to help diagnose patients with rare disorders. Phen-Gen works with both exome and whole genome sequencing data. It is the first algorithm to leverage disease symptoms and give genome-wide predictions.”

Most rare diseases, such as those that affect neurological, brain or cardiac development, manifest early in life.

“There is little else more satisfying than the opportunity to help a sick patient, and through our research at GIS, we want others in the world to benefit as well,” said first author Dr. Asif Javed. “The program is also downloadable online for those who prefer to keep their DNA information private.”

The executive director of the GIS, Professor Ng Huck Hui, commented: “As we enter the genomics era with more powerful Next-Generation Sequencing technologies that can analyse the human genomes at a reduced cost, data analytics becomes a bottleneck.”

“Dr. Pauline Ng’s group has taken on this exciting challenge to develop analytics capabilities. In partnership with the Singapore hospitals, the GIS has initiated a research project on sequencing patients with undiagnosed conditions or congenital disorders. The Phen-Gen method is timely as it fills an urgent gap in hospitals for accurate diagnosis of rare diseases.”

The article can be found at: Javed et al. (2014) Phen-Gen: Combining Phenotype and Genotype to Analyze Rare Disorders.


Source: A*STAR; Photo: Stuart Frisby/Flickr/CC.
Disclaimer: This article does not necessarily reflect the views of AsianScientist or its staff.

Asian Scientist Magazine is an award-winning science and technology magazine that highlights R&D news stories from Asia to a global audience. The magazine is published by Singapore-headquartered Wildtype Media Group.

Related Stories from Asian Scientist