Innovative Portable Device Detects Rare Genetic Mutations Quickly and Accurately

Researchers led by engineers from Rutgers University-New Brunswick have developed a compact and portable device capable of identifying rare genetic mutations from just a single drop of blood. As detailed in a recent study published in Communications Engineering, this groundbreaking technology demonstrates the ability to perform rapid and precise genetic testing outside traditional laboratory settings.

The device was specifically tested for detecting hereditary transthyretin amyloidosis, a genetic disorder that can lead to severe heart problems. This condition is caused by a mutation in the transthyretin gene, which is particularly prevalent among individuals of West African descent. Early detection is crucial because effective treatments are available, making quick, accessible testing vital.

Traditional genetic tests often take days or even weeks to deliver results, limiting timely diagnosis and intervention. The new device aims to change that by providing results within approximately 10 minutes directly during a patient's visit. It operates through a combination of allele-specific polymerase chain reaction (ASPCR) technology and electrical impedance measurements on microfluidic chips, allowing for sensitive and specific mutation detection.

Developed in collaboration with Yale University, this technology closely mirrors traditional PCR tests in accuracy but emphasizes portability and speed. Its design resembles a glucometer, making it suitable for use in community centers, clinics, homes, and resource-limited settings, especially benefitting populations with lower incomes or restricted access to advanced laboratory facilities.

The process involves amplifying DNA segments and analyzing how these segments influence electrical flow in tiny chips, which distinguishes genetic mutations from blood samples. While the current stage performs this amplification outside the microchip, the ultimate goal is to integrate both steps into a single device for seamless, real-time diagnosis.

Scientists are optimistic about expanding this technology’s capabilities to detect multiple mutations simultaneously, which could eventually lead to comprehensive diagnostic tools for various genetic diseases. The versatility of ASPCR and microfluidic chips offers promising avenues for broad applications in personalized medicine and point-of-care testing.

Future improvements focus on enhancing sensitivity, expanding mutation detection, and streamlining device manufacturing to make it more accessible and affordable. Overall, this innovation could significantly impact disease detection, early intervention, and healthcare accessibility worldwide.