This year, Mayo Clinic's Center for Individualized Medicine was at the forefront of COVID-19 research, working to unravel the complexities of the virus in order to discover life-saving treatments and prevention — from testing to building a pandemic response biobank to identifying COVID-19 strains within individual patients. But even in the midst of the pandemic, other precision medicine research efforts were moving ahead.

As 2020 draws to a close, we're revisiting 12 of our significant research stories, including how stool samples, tumor snapshots, phage therapy, miniature cancer replicas and genetic testing are advancing genomics and improving human health.

1. Mayo Clinic sequencing 100K participants to build genomic database for improved care and research: Mayo created a library of genomic sequencing data on 100,000 consented Mayo Clinic participants to advance research and patient care.

“Many individuals affected by hereditary conditions are not aware they are at risk, but genetic screening can lead to diagnoses for individuals and their families.” - Konstantinos Lazaridis, M.D., Everett J. and Jane M. Hauck associate director, Mayo Clinic Center for Individualized Medicine and principal investigator of the Tapestry study.

2. Researchers develop mathematical index to distinguish healthy microbiome from diseased: Researchers reveal how their index, composed of a biologically-interpretable mathematical formula, can take a gut microbiome profile from a person's stool sample to reveal the likelihood of having a disease independent of the clinical diagnosis.

3. Mayo Clinic, NASA team up to test AI algorithm on colorectal cancer: The algorithm developed shows potential in detecting spatio-temporal patterns of colorectal cancer progression solely from tumor snapshots.

“Our research shows our algorithm is able to predict the evolutionary trajectory by which colorectal cancer is going to occur,” says Nicholas Chia, Ph.D., the Bernard and Edith Waterman co-director for the Mayo Clinic Center for Individualized Medicine’s Microbiome Program.

4. Largest pharmacogenetics clinical trial in cardiology shows potential benefit in individualized approach to anti-platelet therapy: The international TAILOR-PCI trial, the largest pharmacogenetics clinical trial in cardiology, suggests that genetic testing could potentially be a useful tool to help select antiplatelet medication.

5. Phage therapy shows potential for treating prosthetic joint infection: Findings suggest phage therapy could provide a potential treatment for managing such infections, including those involving antibiotic-resistant microbes. 

"Phage therapy has the potential to be paradigm-shifting in how we treat infections in this era of increasing medical device use and antibiotic resistance." – Gina Suh, M.D., Mayo Clinic infectious diseases specialist.

6. Mayo Clinic study finds 1 in 8 patients with cancer harbor inherited genetic mutations: Scientists found that 1 in 8 patients with cancer had an inherited cancer-related gene mutation. This mutation would not have been detected in half of these patients using a standard guideline-based approach.

“Genetic testing is critical for early detection of cancer when many are still treatable and can also lead to important decisions regarding targeted therapies that can shrink the tumor and improve survival." Niloy Jewel Samadder, M.D., a gastroenterologist and cancer genetics expert with Mayo Clinic Center for Individualized Medicine in Arizona.

7. Mayo researchers studying novel approach to treating advanced cancer: Ex Vivo creates a miniature cancer replica for testing therapies outside a patient’s body, combined with a comprehensive genomic analysis of a patient’s cancer cells. 

“We are now at the cusp of understanding cancer at the individual level, the molecular complexity level.”  - George Vasmatzis, Ph.D., study leader and co-director of Mayo Clinic’s Biomarker Discovery Program within the Center for Individualized Medicine.

8. Mayo researchers’ endometrial cancer discovery could lead to window of opportunity for prevention: This study is a far-reaching finding both to the basic understanding of endometrial cancer — affecting more than 600,000 women in the U.S. — and for the search for preventative measures. 

“We found that some of the epigenetic markers that are known to be associated with endometrial cancer are altered months to years before the development of the disease." –  Marina Walther-Antonio, Ph.D.,  associate consultant in the department of Surgery, and assistant professor in the Mayo Clinic Center for Individualized Medicine Microbiome Program, with a joint appointment in the department of Obstetrics and Gynecology.

9. Noninvasive test may help some patients with melanoma avoid lymph node biopsy: A Mayo Clinic-led research team has developed a test for patients who have melanoma, the most serious form of skin cancer that shows whether they're at risk of the cancer spreading to other areas of the body.

10. Researcher finds potential microbial pathway to treat IBS, lessen abdominal pain: Mayo Clinic researchers have found new evidence linking the millions of bacteria residing in our digestive systems, known as the microbiome, to a network of factors that drive irritable bowel syndrome.

11. Mayo study explores benefits of genetic testing for healthy people: More than 1 in 10 people who had predictive genomic testing ― testing that looks for genetic mutations in otherwise healthy people ― learned that they had a hereditary risk for a health condition and may benefit from preventive care.

“We have advanced to a point where the idea of sequencing the genome of every patient being seen at Mayo, every person in the world, is becoming a reality.” -  Eric Klee, Ph.D., associate professor of Biomedical Informatics with the Center for Individualized Medicine. 

12. Could population genetic screening improve public health? Data from a population health study show that population genetic screening efficiently identifies carriers of hereditary BRCA-related breast and ovarian cancer, Lynch syndrome and familial hypercholesterolemia, without requiring personal or physician knowledge about them. The study reveals early detection and intervention could significantly reduce morbidity and mortality.

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Tags: #Artificial Intelligence, Cancer Research, Gene Therapy, Genetics, genomics, individualized medicine, Lynch syndrome, multi-omics, ovarian cancer, Phage, pharmacogenomics, Precision Medicine, Rare diseases, Research, undiagnosed diseases