Lab-on-a-Chip DNA Testing Paves the Way for Personalized Medicine

Currently, DNA testing using a microchip device with a USB connector can determine whether you carry disease-risk genes in just 30 minutes, at a cost as low as $20. This type of microchip is known as a “lab-on-a-chip.”

Traditional DNA analysis requires laboratory settings, specialized equipment, and expertise, with results taking several weeks to obtain and at a high cost. Chris Toumazou, Professor at Imperial College London and Director of the Centre for Bio-Inspired Technology, has integrated electronics, biology, genetics, and healthcare through miniature lab-on-a-chip devices, enabling numerous innovative applications. This technology holds significant potential in the rapidly growing, multi-billion-dollar field of personalized medicine.

Multifunctional Dedicated Chip

Each lab-on-a-chip device is preloaded with a specific gene sequence derived from individuals predisposed to a particular disease, enabling the identification of individuals whose genetic profile matches this sequence. Each chip serves a specialized function; for instance, one chip may assess an individual’s risk for type 2 diabetes, while another detects carriers of genes associated with an increased risk of heart disease. The testing process requires only a DNA sample, obtained via saliva or an oral swab, which is then applied to a series of sophisticated semiconductor chips where programmed protocols execute complex analyses.

If the gene sequences in the sample match those on the microarray—i.e., the nucleotides of the subject’s genes pair with and bind to the complementary probes immobilized on the chip—hydrogen ions are released, generating a signal indicating that the individual has or is predisposed to the disease. Conversely, if no nucleotide binding occurs, no hydrogen ions are released and no signal is generated, indicating that the individual does not have or is not susceptible to the disease.

Tomazo explained, “There is a 0.1% genetic difference between individuals, and each genetic test may reveal some new variations. These differences are caused by genetic mutations, and sometimes we also use these mutations to create built-in sequences in chips.”

Lab-on-a-chip devices are highly portable, enabling testing in outpatient settings, remote areas lacking medical infrastructure, or even in patients’ homes; results can be obtained simply by inserting the chip into a tablet or similar device. More importantly, these chips can identify an individual’s susceptibility to various genetic conditions, such as type 2 diabetes and allergies to certain medications.

In 2014, Tumazzo was awarded the title of “Inventor of the Year” by the European Patent Office for this invention, a technology poised for widespread adoption across the public health sector, thereby shifting the medical focus from treatment to early prevention.

“Crafting” Personalized Solutions

By leveraging genetic testing technologies, physicians can not only develop personalized treatment plans tailored to individual characteristics but also provide proactive preventive recommendations. If test results indicate a predisposition to a certain disease, this does not mean the individual will inevitably develop the condition; rather, it offers insights that enable them to modify their lifestyle and minimize future disease risk. Disease prediction represents only a small fraction of this technology’s potential. Furthermore, lab-on-a-chip platforms can determine the most effective medications and optimal dosages based on the genetic profiles of individual patients.

At a conference in 2015, Tumazzo discussed a former cancer patient of his. DNA testing revealed that she was resistant to the medication prescribed by her physicians, prompting them to change her treatment regimen.

Currently, they are developing additional products to help tackle severe bloodstream infections, such as sepsis. T2 Biosystems is expected to launch a chip called DNAe in 2017.

Marketization Faces Challenges

Tommaso acknowledged that they still face many challenges in commercializing their technological products, including the concept of personalized medicine. “Unless there is a major breakthrough, pharmaceutical companies remain skeptical about changing medical approaches.” To this end, they have developed a wide range of consumer-oriented products extending from the lab-on-a-chip platform, hoping to demonstrate its efficacy.

To raise public awareness of gene sequencing, Tomazo has previously made several attempts in this area. For instance, in 2014, he co-founded a cosmetics company called GeneU with Nick Rhodes of the pop band Duran Duran, offering personalized skincare products and tailoring specialized serums for customers based on gene sequencing. He also collaborated with another GeneU colleague, Dr. Maria Cavera, to provide consumers with detailed, gene-sequencing-based guidance on their dietary habits and lifestyle choices.

Chronic diseases such as obesity and heart disease are on the rise in some countries, largely due to changes in lifestyle. “We don’t want to preach to people; we just hope they can replan their purchases based on their DNA,” said Cavela. “If they want to buy cookies, that’s fine, but let’s look at their genetic makeup to find the healthiest option for them.”

Privacy Issues Are Key

Whether in the medical or consumer sectors, one of the key advantages of their lab-on-a-chip technology in attracting users is its ability to effectively protect privacy. Tomasso stated that many genomic sequencing service providers currently on the market may leak information to partners, whereas their product operates under a self-managed model, with sample collection, data analysis, and test results all retained by the customers themselves. Information on the chip is not added to any database or sold to third parties, and the chip can be destroyed immediately after use.

Tomasso believes that genetic information should be kept confidential, as “my DNA should be under my control,” which is also their guiding principle. He hopes these products will rapidly expand into the personalized healthcare market, empowering consumers to take charge of their own health.

Source: China Science and Technology Network