Wouldn't it be great to find out years in advance if you were at risk of developing a disease later in life and be able to take steps to prevent it?
With some recent research findings from Washington State University, that reality may be closer than you think.
Researchers from the university, which include Michael Skinner, a professor in the School of Biological Sciences, studied epigenetic biomarkers — factors that change how a gene is expressed without changing the DNA itself — that are connected to preterm birth, rheumatoid arthritis and autism spectrum disorder.
Epigenetics doesn't research the DNA sequence, but instead the molecular entities around the DNA that affect how the genomes function. Those entities are called methyl groups, and they're organic compounds which link to a DNA molecule that can turn genes within that DNA on and off and regulate how they're expressed.
"We've been studying epigenetics for well over 20 years, but it's only recently we've been looking at a human population to find these new associations," Skinner says.
According to Skinner, epigenetic research has a much higher frequency at accurately identifying an individual's likelihood of developing a disease than genetic research does.
With genetic research, Skinner says, if you have a sample group of 100 people with the same disease, one or fewer will actually have a genetic mutation that's associated with that condition.
The association rate for epigenetic research is much higher than that because it looks at the outside factors that could indicate how a gene is expressed. According to Skinner, it's not uncommon to find these epigenetic biomarkers in 90 percent of study groups when using association studies for certain diseases, versus the 1 percent or less for more-basic genetic research.
The researchers chose to study biomarkers for rheumatoid arthritis, autism and preterm birth. Those areas were chosen because they know that preventative medicine could greatly reduce chances of them developing, but current genetic research — versus epigenetic research — isn't able to determine someone's susceptibility.
And to find and analyze the biomarkers that correlate with preterm birth and rheumatoid arthritis, the researchers analyzed buccal, or cheek, cells.
"For the arthritis or the preterm birth, we used buccal swabs and basically found in females with arthritis this epigenetic biomarker so we could diagnose it early in life and potentially see what we could do," Skinner says.
The rheumatoid arthritis research found that there were mutations to the DNA methylation areas. This means that this condition could be passed down generationally even though epimutations are caused by factors around the DNA, not by changes to the DNA base itself.
They conducted the same type of research for preterm birth. They determined that a specific biomarker found in both the mothers and fathers of premature babies, as well as preterm and non-preterm babies, were different from biomarkers found in parents of babies carried to term. These biomarkers were also found in female premature babies but not in male premature babies.
"We could diagnose that when you have a child, you have a susceptibility potentially to be preterm, or in your first trimester we could do the diagnoses and see if you would actually be susceptible to preterm birth," Skinner says. "Then, there's a whole series of clinical management things that can be done during the birth process, or the gestation process, to prevent or delay the preterm birth dramatically."
The researchers also analyzed sperm samples from fathers who have children with autism. They found 805 different biomarkers that, when present, indicate the possibility of the father passing on the disorder to the child. And while all 805 biomarkers don't need to be present, the more of those markers that are present, the higher the likelihood of the father passing on the disorder to the child.
"It's a 3-to-1 ratio that the father is going to pass the mutation on to the autistic child, and so what we found was that the father's sperm had an epigenetic shift that correlated," Skinner says.
Currently, our medical system focuses on treating diseases when they appear. However, this research could allow clinicians to diagnose individuals with a disease before it develops and provide patients with the resources to reduce the severity of these disorders.
"It's pretty easy to diagnose a disease once it's happened, but it's very difficult to treat it and to do anything about it," he says. "It's much easier to treat through preventative therapeutics and/or clinical treatment before the disease develops."
While this research proves the importance of preventative medicine, Skinner thinks fully transitioning to that type of treatment will take some time, but it will be well worth the wait.
"Essentially, preventative medicine will be what's done in the future, and it's going to be far more efficient than the reactionary medicine we have now," he says.♦
