Smartphone microscope offers cost-effective DNA sequencing and genetic mutation analysis

January 18, 2017 by Meghan Steele Horan, University of California, Los Angeles
Working with a smartphone, the device can use different modes to display cell images. Credit: UCLA, Stockholm University and Uppsala University

Just like an alphabet is made up of individual letters, DNA is composed of chemical bases. And in the same way that letters must be placed in a specific order to form words and sentences, the sequence of chemical bases is incredibly important in how DNA functions and codes our lives.

One reason scientists pay close attention to DNA sequence is that it can help them identify a gene or a mutation that may cause a disease. But the analysis typically requires sending patients' cell and to well-equipped labs, which in many cases are located far away. This is a particular challenge in settings with limited resources—in developing countries and underdeveloped communities, for example—where do not always have the tools or the expertise to conduct DNA sequencing analysis.

Now, a smartphone-based microscope developed by researchers at the California NanoSystems Institute at UCLA and at Sweden's Stockholm University and Uppsala University could make the mutation testing accessible to health care workers even in remote locations, without the need for large, expensive lab equipment. The device can image and analyze specific DNA sequences and genetic mutations in tumor cells and tissue samples without having to first extract DNA from them.

The new device is described in a study in the journal Nature Communications. The research was led by Aydogan Ozcan, UCLA's Chancellor's Professor of Electrical Engineering and Bioengineering and an associate director of CNSI, and Mats Nilsson, a professor of biochemistry and biophysics at Stockholm and Uppsala Universities and the director of SciLifeLab in Stockholm. The study's first authors are Malte Kühnemund of SciLifeLab and Qingshan Wei of UCLA.

Ozcan said the new device could be manufactured for much less than $500 each if it were produced in large quantities—far less expensive than the equipment labs use to conduct the tests today.

"A typical microscope with multiple imaging modes would cost around $10,000, whereas higher-end versions, such as the one we used to validate our mobile-phone microscope, would go for $50,000 or more," he said.

Device using fluorescent image mode. Credit: UCLA, Stockholm University and Uppsala University

Scientists identify cancer cells in part by their shape and other physical characteristics, or morphology. But determining optimal treatments for cancer requires supplementing that information with molecular diagnostics, which can help scientists identify the genetic mutations that cause the tumor.

"It's very important to have these molecular testing approaches at a doctor's office or where care is being given," Nilsson said. "Oftentimes, advanced lab-based testing is performed at major hospitals, which is limiting, as not everyone has access to a hospital that can perform these tests."

The research team designed the lightweight optical attachment to be used with a standard smartphone camera, and they produced the device using a 3-D printer. It can capture multi-color fluorescence and bright-field images at the same quality of those created by a traditional light microscope.

To use the device, a technician places a tissue sample in a small container. The mobile phone microscope records multi-mode images of the processed sample and feeds data to an algorithm, which automatically analyzes the images to read the sequenced DNA bases of the extracted tumor DNA, or to find directly inside the tumor tissue. This mobile microscope can detect even small amounts of cancer cells among a large group of normal cells.

"Ultra–low-cost DNA sequencing and tumor biopsy analysis, in which morphology and mutation analysis are combined, can substantially decrease diagnostic costs and make it more widely accessible," Kühnemund said.

Wei added that the platform could eventually also be used to identify disease-causing bacteria and microorganisms, and to measure the genetic signatures of antibiotic resistance.

Explore further: Researchers combat antimicrobial resistance using smartphones

More information: Malte Kühnemund et al. Targeted DNA sequencing and in situ mutation analysis using mobile phone microscopy, Nature Communications (2017). DOI: 10.1038/ncomms13913

Related Stories

Researchers combat antimicrobial resistance using smartphones

December 15, 2016

A team of UCLA researchers has developed an automated diagnostic test reader for antimicrobial resistance using a smartphone. The technology could lead to routine testing for antimicrobial susceptibility in areas with limited ...

Recommended for you

Meteorite source in asteroid belt not a single debris field

February 17, 2019

A new study published online in Meteoritics and Planetary Science finds that our most common meteorites, those known as L chondrites, come from at least two different debris fields in the asteroid belt. The belt contains ...

Diagnosing 'art acne' in Georgia O'Keeffe's paintings

February 17, 2019

Even Georgia O'Keeffe noticed the pin-sized blisters bubbling on the surface of her paintings. For decades, conservationists and scholars assumed these tiny protrusions were grains of sand, kicked up from the New Mexico desert ...

Archaeologists discover Incan tomb in Peru

February 16, 2019

Peruvian archaeologists discovered an Incan tomb in the north of the country where an elite member of the pre-Columbian empire was buried, one of the investigators announced Friday.

Where is the universe hiding its missing mass?

February 15, 2019

Astronomers have spent decades looking for something that sounds like it would be hard to miss: about a third of the "normal" matter in the Universe. New results from NASA's Chandra X-ray Observatory may have helped them ...

What rising seas mean for local economies

February 15, 2019

Impacts from climate change are not always easy to see. But for many local businesses in coastal communities across the United States, the evidence is right outside their doors—or in their parking lots.

1 comment

Adjust slider to filter visible comments by rank

Display comments: newest first

not rated yet Jan 21, 2017
A real breaktrough to accelerate research and medical progress, with a strong impulse !!
Any one will know what is good or wrong in the DNA of his cells !!

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.