UW expands efforts in genomics, precision medicine
A new building going up at UW Health’s clinical and research complex on Madison’s West Side will be home to an expanded focus on two hot fields: genetic testing and treatments tailored to the genetic makeup of patients or their disease.
The newly created UW Center for Human Genomics and Precision Medicine will be housed in a $21 million, two-story building attached to the Wisconsin Institutes for Medical Research, next to UW Hospital.
An additional $7 million will be spent to connect the genomics building, expected to open next year, to the hospital and remodel areas within the hospital for genomics facilities.
“We’re trying to bring genomic medicine to Madison and to the people of Wisconsin so they can get some of the benefits,” said Dr. Stephen Meyn, a pediatrician and molecular geneticist who came to UW-Madison from the University of Toronto in December to lead the new center.
Eight to 12 faculty will be recruited to join at least a dozen faculty already involved in genomics on campus, Meyn said. Some of the new faculty will be hired through six cluster hire initiatives announced in February by the university and the Wisconsin Alumni Research Foundation. Three of the clusters involve genomics.
In all, some 100 people are expected to be working at the new center within a few years.
Since the sequencing of the human genome was announced in 2000, the cost of testing to see how a person’s 3 million bits of DNA differ from others, and whether the differences might cause or be associated with disease, has decreased dramatically.
Broad genome tests from a diagnostic lab, which are considered clinically valid, cost $3,000 to $6,000, while direct-to-consumer versions can run less than $1,000, Meyn said.
About 7,000 rare genetic diseases have been identified, but another 2,500 or more are believed to be undiscovered. In aggregate, such conditions aren’t so rare: About 1 in 12 people, or 8 percent of the population, have a rare genetic condition, Meyn said.
Many more people — 80 percent or more — are thought to have at least one major genetic risk factor for a common disease, such as heart disease or cancer.
With genome testing now more practical, the genomics center will focus on the growing clinical use of the testing, improving techniques for interpreting the results and enhancing knowledge of genomics, including attempts to discover more disease-related genes, Meyn said.
Doctors have typically tested children suspected of having a rare genetic disease for a particular gene — but if the result is negative, the mystery of the child’s symptoms remains.
Broad genome testing is more often leading to a diagnosis, Meyn said.
“It’s pointing us to more wide use of tests that cast a wide net,” he said. “Maybe we should be using these tests early … instead of as a last resort.”
With breast cancer, mutations in the genes BRCA1 and BRCA2 have long been known to significantly increase a woman’s risk. In recent years, other genes have been found that moderately boost the risk. More genes likely will be identified that only slightly increase the odds.
Eventually, women might be tested for all of the genes at a young age. Doctors could tell them when to start mammograms, and how often they should have them, based on their overall risk.
“That is where things are headed for common diseases,” Meyn said.
Dr. Mei Baker, co-director of the newborn screening lab at the Wisconsin State Laboratory of Hygiene at UW-Madison, said the genomics center could help researchers like her expand their work.
Babies in Wisconsin are tested for 44 genetic disorders not visible at birth, using five drops of blood collected from a prick of their heels.
For some conditions, such as cystic fibrosis, only the most common mutations are checked. In rare cases, babies might have other mutations that aren’t picked up by the tests.
Gathering more data about other mutations could allow scientists to add them to newborn screening, Baker said.
Another effort that could grow through the center is UW Carbone Cancer Center’s molecular tumor board. Started in 2015, the board is a group of doctors who meet regularly to choose cancer treatments based not on where in the body a patient’s cancer started but on genetic mutations in their tumors.
The tumor board, which has mostly focused on adult patients, could expand to children, Meyn said.
An undiagnosed-diseases program being set up by the center will use advanced analysis to help identify the genetic source of patients’ unexplained symptoms. The effort could help UW researchers discover new disease genes.
“By focusing on people who are basically genetic mysteries, we think we’re going to be able to do that,” Meyn said.