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Published on August 23, 2022

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Avera Scientists See Complete Human Genome as Revolutionary Step in Study of Disease

When scientists finalized the map of the human genome recently, most of us probably didn’t take notice. Yet it was big news for scientists at the Avera Institute of Human Genetics.

“It’s a breakthrough – it’s like having a focus on an image that once was blurry,” said research scientist Casey Finnicum, PhD, Avera Institute for Human Genetics.

There are roughly 6 billion letters that make up the chromosomes of DNA in the human genome. These tiny bits of information determine our height, hair and eye color, and even our likelihood of getting some illnesses.

In 2003, about 92% of the genome was documented and now, the project is complete.

“Some genetics labs don’t have clinical partners like physician clinics and hospitals,” said Jeffrey Beck, PhD, Avera Institute for Human Genetics research scientist. “Because we’re part of Avera, we have those partners, so we can use our research and apply it directly to clinical settings that will help patients achieve better outcomes.”

Genome mapping, sometimes called sequencing, is known as “pure” science – work designed to create foundations upon which researchers build. Avera aims to blend pure science with clinical improvements.

Nationwide, roughly $2.7 billion was invested in the study of the genome. Now that it’s fully mapped, Avera’s researchers will leverage the new knowledge.

“We have a unique scientific setting: world-class genomic labs and leading-edge clinical expertise, too,” Beck said.

Breaking Down Barriers in Genetic Science

Beck and Finnicum are working on research projects with Avera clinical partners. Genetics are an important part of efforts to fight heart disease, America’s No. 1 killer.

One place the breakthrough of 2022 will be applied is in the use of polygenic scores (PGS) or polygenic risk scores (PRS), which are estimates of an individual's genetic liability to a trait or disease, calculated according to their genotype profile and relevant genome-wide association study data.

“When doctors have better insight on potential risk, they can intervene with better timing,” Finnicum said. “This isn’t to say genetics will answer every question, but they can make big differences.”

The clarity of the completely sequenced human genome can be applied to real-world situations. People who might have a predisposition for high blood pressure or other heart-disease-related health problems may learn of their susceptibility earlier – with time to affect the outcome.

“Scoring has a role, and in the last decade, that role has grown more accurate,” he said. “The completion adds another piece – a small-but-vital piece -- that will most likely continue to increase accuracy."

The completion of the final 8% is so new, its impacts are still echoing.

“We have more information now that the genome’s completely sequenced,” Finnicum said. “The potential payoff is something we’re all digging into, every day.”

Research Continues to Change Health Care’s Future

In addition to the cardiovascular risk factors, Avera continues its leading-edge twins register and studies, along with research that looks not only at DNA, but environment.

Twin research can help decode the influence of genetics and environment when it comes to health and disease. That’s because identical twins share identical DNA, but they may not share the same environment throughout their lifetime.

Avera partners with the world’s leading twin register, the Netherlands Twin Register at the Vrije Universiteit Amsterdam, where the tiniest bits of information could change big-picture thinking in health care.

“Now that we know more about every part of the genome, we’ll gather better information,” Finnicum said.

The completion of the genome sequence also will enhance the AIHG’s work in drug interactions and genetics as well as pharmacogenomics – which studies how certain medications work best for certain people,

Clinical applications are at the root of their work.

“Impactful solutions are always our goal, and the improved precision we now have with the complete genome is a game-changer,” Beck said. “It will continue to be the source of new discoveries for years to come.”

Learn more about Avera’s genetic research and how it affects health care outcomes.

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