You may be familiar with many tips for living a healthy life: Watch your weight, exercise, eat healthy and don’t smoke, for example.
What if you could combine these lifestyle factors with many other variables to learn the risk of developing certain diseases, to help catch and treat them sooner or prevent them altogether? Victor Ortega, MD, Ph.D., associate director of the Mayo Clinic Center for Individualized Medicine in Arizona, explains how science is getting closer to making such health predictions possible.
Before it was impossible, such health guidelines are increasing significantly due to the new and complex technologies of extensive genetics that take data around genes, Dr. Ortega says. Complex information is gathered from a combination of data from thousands to hundreds of thousands of different human DNA sequences. This type of large genetic information has the potential to predict the risks of diseases, such as heart disease, diabetes, asthma and certain types of cancer.
“Imagine knowing your genetic predisposition for heart disease in your 50s, or if you’re in the top 5% of the population for cancer or diabetes risk based on data from your entire genome. With this knowledge, you can make better lifestyle choices and get better diagnoses to reduce that risk,” Dr. Ortega says.
As a pulmonologist and genomic scientist, Dr. Ortega is leading the charge to breathe new life into the development of precision medicine. Her mission is rooted in a deep commitment to health equity and inspired by her grandmother.
“My grandmother died of asthma, and that should not have happened. She was Puerto Rican like me, and Puerto Ricans have the highest intensity and frequency of asthma of any race in the world,” Dr. Ortega says. “They also represent less than 1% of people in genetic studies. So, I’ve made it my life’s work to develop treatments and diagnoses for people like my grandmother, and everyone.”
Each person has millions of genetic variants, each with a small effect. But together, these types can increase the risk of getting the condition. The polygenic risk factor estimates a person’s overall risk of developing a disease by adding the small effects of variants across a person’s genome.
Polygenic risk factors are not used to diagnose diseases. Some people who do not have high risk factors for a particular disease may still be at risk of developing the disease or already have it. Some people with high risk factors may not develop the disease.
People with the same genetic risk can have different outcomes depending on other factors such as lifestyle that controls environmental exposure throughout life, also called exposome.
Dr. Ortega says that getting to the point where everyone knows their polygenic risk factors will require a solid foundation of “omics” research and datasets, the latest technology and further discovery of gene-gene links. – all of which are within his group. expertise and skills.
Omics is an emerging multidisciplinary field of biological sciences that includes genomics, proteomics, epigenomics, transcriptomics, metabolomics and more.
“It’s going to take a lot of work and planning, but it’s definitely the way of the future,” he says.
In a short time, Dr. Ortega plans to transition many discoveries from research laboratories to the clinic. Omics data can help identify molecular culprits that drive human disease, as well as biomarkers that can lead to the development of targeted therapies and diagnostics.
Recent discoveries at the Mayo Clinic’s Center for Individualized Medicine have helped scientists predict the response to depression in people with depression and find a treatment plan for bone cancer. Scientists have also used omics to identify genetic variants that may increase the risk of severe COVID-19, to discover clues that can help prevent and treat gliomas and to reveal the genetic makeup of the disease. and neurodevelopmental abnormalities.
From his years of extensive clinical experience in treating patients with acute respiratory diseases, Dr. Ortega is also working to expand genomic testing to a broader group of diseases. He points to the agency’s collaborative Program for Rare and Undiagnosed Diseases as a working model he hopes to expand.
The Rare and Undiagnosed Diseases Program actively engages health care teams across Mayo’s clinical practice to perform genomic testing for patients with suspected rare genetic mutations. He says expanding this plan to more diseases will help build collaboration across Mayo and educate more doctors about genomics. It can also ensure that the most effective genetic sequencing tests are offered to patients, ultimately improving patient care and outcomes.
Dr. Ortega is leading the development of a polygenic risk factor framework for the Mayo Clinic, starting with interstitial lung disease. This condition, characterized by progressive lung damage, is influenced by rare genetic variants and a collection of common variants, all of which are captured together by polygenic risk factors.
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