University of Wisconsin-Milwaukee School of Public Health
New method to sift through large datasets of genetic information.
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Earlier this fall, a biostatistics researcher at the University of Wisconsin-Milwaukee School of Public Health named Paul Auer published a paper, in collaboration with several other scientists, identifying 17 different types of rare genetic mutations in humans associated with diseases like heart disease and diabetes.
The research they conducted was sweeping, and involved sifting through genetic information from more than 36,000 people with European ancestry from the United States, the United Kingdom and mainland Europe.
While the discovery of links between certain genetic variations and specific diseases is nothing new – scientists have known of or suspected genetic links to certain cardiovascular and blood diseases for years – the specificity of their research on mutations within the human genome is, and could inform medical research for years to come.
Because cardiovascular and blood diseases are so complex and can be caused by so many different factors, finding specific genetic causes is extremely difficult. But Auer and his collaborators, many of whom are based at the Wellcome Trust Sanger Institute, a nonprofit genomics and genetics research institute near Cambridge, England, developed a new method to identify links that involves sifting through massive datasets of genetic information.
“It gives us a level of granularity that you really couldn’t have before we put this together,” Auer said. “It let us go into fine grain detail along the genome.”
Auer obtained his undergraduate degree in mathematics and didn’t get involved with genetic research until he was pursuing his doctorate in statistics at Purdue University.
“I got involved in research with plant genetics,” Auer said. “We were doing lots of data analysis and, really, the fundamental principles of what you do with plant genetics are similar to what you do with humans.”
After obtaining his Ph.D. from Purdue, Auer went to the Fred Hutchinson Cancer Research Center in Seattle, where he worked with a team that was using genetic techniques to study diseases, such as cancer, in humans. Three years later, in 2013, he took a faculty position at the School of Public Health at UWM.
Auer and his collaborators on the paper published earlier this year used data from previous studies to create a resource called a “dense imputation panel” that holds a vast trove of genetic detail that can fill in gaps from previous, low-resolution genetic studies to help researchers find connections or possible links between genes and diseases.
“The focus of our paper was really on risk factors for heart disease, but the approach and the imputation map that we composed is applicable to any other disease with a genetic component,” Auer said.
While identifying precise links between genetic variations and diseases is a first step, Auer said translating their research into treatments for those diseases will take some time to develop and still could be years away.
Auer sees genetics and genomics becoming a major part of medical research and treatment in the next decade, and said he believes individualized genomes will become commonplace on patient medical records accessible by doctors during routine checkups.
Recent advances in genetic research have “transformed the way we think about treating and preventing diseases,” he said. “This notion of tailoring treatments for each individual is absolutely where health care is headed, and geneticists will play a part of that for sure.”
Opportunities to apply advancements in genetic research to the medical industry in a business sense are multifaceted.
Scientists and doctors could take their findings in the direction of therapeutics and work with the pharmaceutical industry to develop new treatments for certain diseases. Entrepreneurs also could begin building startups around the idea of direct-to-consumer genetic testing.
At least one such company, called 23andME, already exists and promises to test customers’ DNA for $99 and give them a breakdown of their global ancestry. It also offers a $199 test that gives a more detailed breakdown, with health-related information about their genes.
Other existing companies focused on ancestral research, such as ancestry.com, offer similar DNA testing services for a comparable price.
“I think, in time, it will become a routine part of your medical history that your physician sees,” Auer said.