“For so many people, biology is something scary that takes place in a lab,” Aull said. “This shows people it’s understandable, and part of your life ... You can do it with basic kitchen equipment.”
To the tube, Aull added compounds that are specifically designed to isolate the fragments of DNA that could hold either normal genes or mutations. Then, she loaded the stovetop samples into her thermal cycler, a piece of lab equipment that noisily and rapidly ramps the temperature up and down, to create many copies of bits of DNA that could carry the mutation.
When her samples were ready, Aull loaded them into a gel in a plastic box and hooked it up to a high-voltage power supply. The DNA moved across the gel. Later, in the glow of an intense blue light, she watched bands of DNA light up, revealing which mutations lie within her genes.
So far, Aull’s initial experiment indicates that she carries two mutant genes. She is repeating the experiment to check her results and eventually plans to get a professional test.
Beyond getting the experiment to work, the big questions hanging over home biology experiments right now include safety and determining how such amateur efforts will coexist with professional science, said Mackenzie Cowell, who is working to foster a biology community called DIYbio — for do-it-yourself biology — in Boston.
Keith Robison, a computational biologist who worked at Codon Devices, urges caution to amateurs who may not understand the nuances of their self-experiments without the assistance of genetic counselors.
He took an example from his own life to describe the undue anxiety that can come from pursuing one’s own genetic information. When he found out that someone in his wife’s family was color-blind, he became “semi-obsessed” with calculating the probability his son might also be color-blind. Unlike color-blindness, many diseases are caused by a mix of factors, only one of which is genetics. So what kind of confusion could occur, Robison wonders, if people begin sifting through their genome and find a gene that “raises the risk [for a disease] in some complicated way we don’t know how to understand?”
Even when scientists have pinpointed the genetic mutations that cause a disease, as they have done with hemochromatosis, some people who carry both mutant genes may develop no symptoms of the disease.
Patients should not take action without medical advice, said Cheryl Garrison, executive director of the Iron Disorders Institute, a nonprofit group that raises awareness about hemochromatosis.
“It’s imperative they maintain a relationship with their doctor,” Garrison said. “Before you take action on the results, make sure you get a medical partner.”
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