Six early career investigators presented a snapshot of the future of precision medicine as part of the Individualizing Medicine Conference 2016: Advancing Care Through Genomics. Thanks to generous support from the Brandt Family Scholars Fund, the six had the opportunity to attend the conference Mayo Clinic Center for Individualized Medicine hosted in October in Rochester, Minn.

Symposium participants were grateful for the opportunity to present their research, network with colleagues and hear presentations from leaders in the field of precision medicine.

Dr. Vanessa Hale

“I am very excited to pursue a career in the microbiome field and its relationship to health and colorectal cancer,” says Vanessa Hale, D.V.M., Ph.D. “I hope that this area of research will advance so that we can conduct personalized microbiome examinations and recommend treatments to help people live the healthiest life possible.”

Highlights from the presenters include:

• Chelsea Gawryletz, D.O., of Mayo Clinic’s campus in Arizona, explained how genomics provided an explanation for a patient's repeated bone fractures and deforming contractures. Genetic testing led to a new diagnosis, Bruck Syndrome type 2.
• Dr. Hale, of Mayo Clinic’s campus in Minnesota, highlighted her work to identify shifts in the gut microbiome, the community of bacteria in the digestive tract, which may be connected to the development of colorectal cancer. Dr. Hale emphasized that despite the genomic revolution, researchers can only identify genetic mutations that cause five to 15 percent of colorectal cancer. Therefore, examining other factors that lead to the development of the disease, such as diet, are critical to improving diagnosis and treatment for this condition.
• Laura Ramsey, Ph.D., of Cincinnati Children’s Hospital, highlighted the hospital’s implementation of pharmacogenomics into patient care. Pharmacogenomics uses a patient’s genetic profile to help prescribe the most effective medications. Dr. Ramsey discussed the steps taken to integrate information in the electronic medical record to alert physicians about drug-gene interactions when prescribing certain medications. She also explained that education programs for both physicians and patients have been key components of the program’s success.
• Nicole Boczek, Ph.D., of Mayo Clinic’s campus in Minnesota, showed how RNA-sequencing, a form of genomic testing, offers physicians and patients insights into the underlying causes of an undiagnosed condition or disease. As an example, Dr. Boczek presented a case where RNA sequencing helped diagnosis a rare disease that was present in two children within the same family, helping the parents understand their children’s condition and providing information for family planning.
• Arjun Athreya, of University of Illinois at Urbana-Champaign, discussed the importance of creating computer models that can analyze the large amounts of genomic and biological information in order to advance precision medicine. A key issue in precision medicine has been how to analyze and store vast amounts of data that come with genomic sequencing. An engineer by training and current doctoral student, Mr. Athreya has worked with researchers at both University of Illinois and Mayo Clinic to take information from electronic medical records, clinical trials, genomic testing results and population health studies and input it into specially designed computer models to develop personalized diagnostic tools and treatments for many conditions.
• Irina St. Louis, M.D., Ph.D., of University of Minnesota, discussed her research to identify biomarkers for cryptococcal-associated immune reconstitution inflammatory syndrome (C-IRIS), a debilitating neurological disease that is difficult to diagnose. While patients with this condition may initially respond to antiviral treatment, 30 percent of these patients die from the disease, resulting in more than 250,000 deaths worldwide each year. Dr. St. Louis has identified biomarkers that may help define subgroups for the disease, potentially leading to earlier diagnosis and better targeted treatments.

The young investigators were impressed by the variety of disciplines involved in individualized medicine research.

As Mr. Athreya explains, “The conference enabled me to meet with investigators and learn about the challenges that they are facing in their research and day-to-day clinical practice. It will help me create better data analysis systems for them. None of us can do this alone – we must work together.”

Dr. Nicole Boczek

Dr. Boczek adds,” It was such a fantastic opportunity to present my work in front of peers as well as those that I see as leaders in the field and mentors.”

For Dr. Ramsey, the conference confirmed the importance of her research and allowed her to meet mentors in the field.

“I had the chance to hear leading experts say that pharmacogenomics influences every single one of us – that is important for all of the clinicians in the audience to hear and is validation for the work that I am doing,” says Dr. Ramsey.

Dr. Chelsea Gawryletz

"I learned a great deal from my fellow presenters and take home that collaboration and multidisciplinary approach to patient care as the way that we are going to make advances in cancer care," says Dr. Gawryletz.

“Precision medicine is a rapidly advancing field and we need to attract investigators who can  advance the research to translate individualized medicine into patient care,” says Timothy Curry, M.D., Ph.D., session moderator, director of the Education Program in the Mayo Clinic Center for Individualized Medicine and a clinical anesthesiologist on Mayo Clinic’s campus in Minnesota. “The Early Career Investigators in Precision Medicine symposium was a new session at the conference this year and showcased the breadth of research being conducted in individualized medicine. We are grateful to the Brandt family for their support.”

Dr. Timothy Curry

The Mayo Clinic Center for Individualized Medicine hosted the Individualizing Medicine conference with support from the Satter Foundation.

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You’ll want to save the date for next year’s Individualizing Medicine Conference. It is planned for Oct. 9-11, 2017.

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