PCR testing moves out of the clinical pathology laboratory and into a teen-aged boy’s bedroom laboratory
In a demonstration of how evolving technologies make it easier and cheaper to operate clinical laboratories, a teen-age boy in Yorkshire, England, has built his own DNA analyzer and identified the gene mutation that gives his brother red hair.
That demonstration allowed Fred Turner, age 17, to silence the endless teasing from friends about how he and his red-haired brother, Gus, probably had different fathers. It also won for Fred the award of “UK Young Engineer of the Year 2013.”
Homemade DNA Analyzer Built by UK Teenager
At the same time, Turner’s creation of a DNA analyzer that he can operate from his bedroom is a timely reminder to pathologists and medical laboratory professionals that not only is the cost of sequencing a base pair falling to rock bottom levels, but advances in gene sequencing technology have now made it simple enough for a smart high school student to build his own DNA analyzer and use it to get accurate results.
The backstory to this achievement is that Fred has dark brown hair and Gus, his brother, has “loud red curls.” In the United Kingdom, the term “ginger people” is often used to describe a red-haired person. “After years of jokes from my friends saying me and Gus have different dads, I built the [DNA sequencing] machine to test once and for all why my brother is ginger and I’m not,” stated Fred in an interview published by The Daily Mail.
Even by today’s standards, it is notable that a teenager created his own DNA analyzer in order to quiet the endless teasing from friends. And in so doing, Fred Turner earned himself recognition as the United Kingdom’s Young Engineer of the Year 2013. The recognition was bestowed at the National Science + Engineering Competition Awards Ceremony that took place last month.
Turner’s DNA Machine Could Amplify DNA Using PCR
Turner lives in Brighouse, West Yorkshire. He built a polymerase chain reaction (PCR) machine. That took him about one year and he spent £400 (about US$622). He was inspired to build his DNA analyzer after reading about how a man in the United States built a similar machine.
Part of his machine was made from an old video player that was in his home. Most properly, Turner’s machine handled the step of DNA amplification. As he described the process, he collected a sample of buccal cells from his brother’s cheek. Next, he heated the cells to 95 degrees celcius in order to release the DNA from the cells. He then put that solution into a centerfuge to separate the DNA from the rest of the specimen.
Teenager Amplifies Brother’s DNA, Identifies Genetic Mutation for Red Hair
Following that step, Turner added the DNA to an enzyme and primer and loaded this into his DNA analyzer. Two hours later, he harvested the resulting sample. This was sent to a laboratory for analysis. That lab’s analysis confirmed that Gus’s DNA had the sequences that produce the ginger-color mutation.
In The Daily Mail’s interview with Turner, he explained his process in his own words. “The cycle takes two hours and after [that], while there is nothing you can see because DNA is transparent, there is more DNA than you started with—you have effectively amplified the DNA.
“It is a DNA photocopier, amplifying the DNA you have to see what you’ve got,” continued Turner. “If you start with one copy, you will end up with a billion copies after approximately 30 cycles (the two-hour process). Once the cycle is finished, you have two options depending on what gene you are targeting—sequencing and electrophoresis.
Used Outside Gene Testing Laboratory to Sequence the Amplified DNA
“To identify my brother’s mutation, I opted for sequencing which I couldn’t do at home so I had to send the sample to a lab,” he explained. “The sequencing gives you a genetic code of As, Gs, Cs, Ts. The ginger mutation is just one letter different in the code, called an SNP, and when I sent Gus’s sample away it was identified.”
Pathologists and molecular scientists should take note that Turner, on his own, was able to take the DNA sequence and identify the mutation. He simply had to reference a published source on the Internet. “I already knew what I was looking for because you can look up the genome on the Internet,” he stated. “So, when I got my sample back, I could see the mutation that causes Gus’s ginger hair.”
Third Teenager in Past Year to Win Recognition for a Medical Lab Test
For regular readers of DarkDaily.com, this is the third time in the past year that we have reported on a teen-ager who has won national recognition for creating a useful diagnostic test. In July 2012, Jack Andraka, then 15, of Crownsville, Maryland, took top honors, including a $75,000 award, at the Intel International Science and Engineering Fair for his stunning discovery of a new diagnostic test for early detection of pancreatic cancer. (See Dark Daily story: “High School Student Develops Diagnostic Test to Detect Early-Stage Pancreatic Cancer.”)
Just a month later, in August 2012, it was a 17-year-old girl from Sarasota, Florida, who made national news headlines. Brittany Wenger developed a software program that was able to more accurately diagnose breast cancer from specimens collected by fine-needle aspiration (FNA). Her computer application detects breast cancer with 99% accuracy and won second-place at the Google Science Fair. (See Dark Daily story: “High School Student Develops Diagnostic Pathology Testing Application that Increases Sensitivity of FNA Testing for Breast Cancer“.)
Medical Laboratory Testing Poised to Move Closer to Patients
What the accomplishments of teen-agers such as Fred Turner, Brittany Wenger, and Jack Andraka demonstrate is that the continuing improvements in diagnostic technologies are making it simpler and cheaper to perform useful diagnostic tests outside the walls of the traditional, centralized medical laboratory.
If teen-agers are doing this on their own, with limited financial resources, one can only imagine what lies ahead whenever the biotech and in vitro diagnostics industries get serious about developing cheap, reliable, and easy-to-perform medical laboratory tests that can be performed in any setting, including patient self-testing.
—By Robert L. Michel