Precision medicine

When Ramin Homayouni, Ph.D., worked out, often he would take ibuprofen for inflammation and pain, and simply accepted that it would cause discomfort in his stomach.

Somewhere along the line, Homayouni also developed a gluten allergy.

Through a genetic screen, however, it wasn’t until last year that he connected the two conditions.

“It turns out I can’t metabolize ibuprofen, so for years I’ve been overdosing on it,” says Homayouni, a professor in the OUWB Department of Foundational Medical Studies and founding director of the school’s Population Health Informatics program.

“I was wrecking my gut,” he says. “If your gut is compromised, food leaks into your blood and you develop antibodies against your food…that’s most likely when I developed a gluten allergy.”

If Homayouni had known earlier that his genetics wouldn’t allow him to metabolize ibuprofen and other nonsteroidal anti-inflammatory agents (NSAIDs), he could have found other ways to treat his pain. Likely he wouldn’t have had the discomfort in his stomach, nor would he have developed the gluten allergy.

In short, genetic screening could have improved quality of life for Homayouni — the kind of improvement, he says, many others could enjoy with the added benefit of keeping health care costs down.

And that’s exactly why Homayouni and many other partners are working on two major genetic sequencing research projects that fall under the umbrella of what has become known as precision health.

One of the projects — BabySeq2 — aims to serve as the first comprehensive sequencing of healthy newborns. The idea is to find genetic conditions in babies as soon as possible to address any identified conditions. (see sidebar, “BabySeq2: Improved health outcomes for infants and their families”)

The other project — Precision Health — is for adults and aims to detect genes linked to heart disease, cancer, and other types of treatable medical conditions. (see sidebar, “Precision Health: A healthier and more equitable future through genetic screening”)

“We can identify conditions that are clinically treatable or actionable…we can improve health care,” says Homayouni.

Why now?

Genes are made up of DNA, which consists of long strands of four nucleotide bases: adenine (A), thymine (T), cytosine (C), and guanine (G). The human genome is a unique combination of 6 billion nucleotides that code for over 20,000 genes that determine how organs and cells function and interact with one another. 

Sequencing an individual’s DNA allows scientists to identify gene mutations that cause or are linked to diseases like cancer and could open the door for doctors to provide personalized precision medicine.

The first attempt to map and sequence the human genome began in 1990.

Called the Human Genome Project, a group of international researchers undertook the project. By the time the sequence was completed in 2003 — for just one person — more than $1 billion had been spent. It was funded by the National Institutes of Health and other agencies.

Today, two factors have made gene sequencing more feasible.

One, the private sector has taken interest, and costs have plummeted.

“Now we can sequence an entire human for approximately $1,000,” says Homayouni.

The other big difference is that technology has improved.

“The accuracy of the technology is now clinical grade,” says Homayouni.

Because of the reduction in costs and improvement in technology, human genome sequencing now provides what Homayouni calls “actionable” information — and that’s where the two big projects OUWB’s involved with come into the picture.

The benefits to OUWB

There are several benefits to OUWB for being involved with the projects.

First and foremost, they align directly with OUWB’s mission, vision, and values, says Richard Kennedy, Ph.D., associate dean for Research, OUWB. (Kennedy also serves as vice president and director of Beaumont Research Institute at Corewell Health in southeast Michigan.)

Also, Kennedy says the projects also are a “very good representation of what collaboration between (OUWB and Corewell Health) can do to further health care delivery.”

Homayouni agrees and says it is a good example of how “academic and research pursuits can directly help patients as well as the health system.”

It’s the kind of value, adds Homayouni, that can help position the health system at the forefront of the precision-health movement and advance its mission toward population health and value-based medicine. Being able to identify and treat medical conditions before they become complex as well as chronic conditions, enhances quality of life for patients while contributing to a reduction in the total cost of care.

“Our research is directly impacting what they’re doing in clinical care,” says Homayouni.

Also, it adds to the increasing amount of research being done by OUWB faculty and students and provides collaborative opportunities with other institutions.

The Precision Health project, for example, started as a quality improvement pilot, but has created a unique cohort of adult patients who could be longitudinally followed to address a variety of research questions that range from health disparities to whether health care providers feel comfortable with interpreting genetic information in their respective fields.

Many of these studies could involve OUWB medical students and provide the basis for their capstone (Embark research) projects,” says Homayouni.

In addition, the findings from these studies could be integrated in the medical education curriculum to train the next generation of doctors.

‘A long way to go’

For all the promise of genome sequencing, hurdles do exist, according to Kennedy.

One is cost. The genetic-screening project designed for adults, for example, carries a price tag of $300-$350. (Grants have covered costs for participants so far.)

At this time, Kennedy says insurance companies are not inclined to cover the procedures, especially when there is the risk of additional testing and costs that will result. He does expect the companies to eventually see the positive impact.

“It’s just a matter of how long it will take the financial side of things to accept it,” he says.

Another issue Kennedy identified is that many people simply don’t want a record of their genetic information to exist. Concerns include potential impact on insurability and/or the desire to take an “ignorance is bliss” approach.

The costs and apprehension to genome sequencing could create a scenario where disparities in health care are further widened, says Kennedy.

And yet another issue, he adds, is the fact that medical students and residents aren’t yet being trained on “how to handle this kind of data.”

Still, Kennedy says he does see a day where genome sequencing will be scalable.

“I do think that 10 years from now it will be more the norm than it is now.”