On the second day of Individualizing Medicine 2016: Advancing Care Through Genomics, a conference sponsored by the Mayo Clinic Center for Individualized Medicine, the afternoon sessions brought compelling presentations and lively discussion about the promise of genomics now and in the future.

The Genomic Era: Promise and Over-Promise

Dr, Marshall Summar and moderator Cathy Wurzer

“We try to take all the things we have been talking about – precision medicine, genomics – and apply them in the front lines of genetics and patient care,” explains Marshall Summar, M.D., who is well-known for his pioneering work in caring for children diagnosed with rare diseases.

In his presentation, Dr. Summar, chief, Division of Genetics and Metabolism at Children’s National Health System, highlighted the areas where genomics has made the biggest impact:

• Diagnosis of rare diseases – improvements in diagnosis, treatment and screening
• Cancer – DNA sequencing enables the categorization of different types of cancer and the development of individualized targeted treatments
• Mechanisms of disease – underlying genetic pathways in a disease shed light on the mechanisms that cause disease which can lead to ways to prevent or slow its progress
• Improvements in newborn screening leading to earlier diagnosis and treatment of genetic diseases

“Do we sometimes over promise the power of genomics? Yes – for example, a bold statement from one of my colleagues who said ‘genetic testing will replace the physical exam in 10 years,’” adds Summar.

But Summar quickly put genomics into perspective.

“A lot of times we want to substitute technology for the hard work of physicians. Having genetic information is like having the world’s biggest lever. But if you don’t have a physical exam and a medical history for that patient and their family, you have a lever with no fulcrum from which to act. You have information, but no context in which to put it,” Summar says.

Systems Medicine and P4 Medicine: Transforming Healthcare Through Wellness

Dr. Leroy Hood

Leroy Hood, M.D., Ph.D., a renowned scientist and biotechnology innovator, continued the discussion and presented his compelling research and perspectives on how focusing on wellness can lead to the discoveries that will improve prevention, diagnosis and treatment of disease.

Dr. Hood, president and co-founder, Institute for Systems Biology (ISB), and chairman, P4 Institute, explained that rather than focusing on precision medicine and genomics, we should focus on P4 medicine – medicine that is predictive, preventive, personalized and participatory.

Dr. Hood explained his vision by citing his pilot study in which 108 participants provided health information, behavioral and environmental data, had their DNA sequenced and gave blood and stool samples.

“In fact, genetics only accounts for 30 percent of a person’s health. Lifestyle and environment — often which are a personal choice — account for 60 percent. This is why genetic data is only one portion of the data we collect and analyze to understand wellness,” says Dr. Hood.

Project participants were monitored at three month interval, and while many were skeptical at first, all became actively engaged in the project and their health over the course of the year.

What was the reason for their enthusiasm? They received actionable suggestions for ways to improve their health from regular visits with a coach, who monitored their progress.

“The coaching is an integral part of the wellness journey. Participants are more likely to stop overeating, stop smoking or take other actions to improve their health if they work with a coach,” explains Dr. Hood.

He believes that large, longitudinal studies like his pilot study will provide a window into how wellness transitions to disease and how that process can be stopped or slowed.

Consumer Genomics Panel Discussion

Dr. Hood was joined by Justin Kao, co-founder and senior vice president at Helix, and Jill Hagenkord, M.D., chief medical officer at 23andMe, for a lively panel discussion on consumer genomics.

Issues discussed included:

• Responsibility of companies providing direct to consumer genomic testing to provide results that can be easily understand by consumers
• Privacy is critical— patients need to have control over where their genetic data is shared — whether with employers, payers or researchers
• Results from genetic testing should not impact patients’ ability to get health insurance, but it might impact life insurance
• Because of the rapid advances in genomics, the Food and Drug Administration (FDA) faces many challenges when determining how to regulate consumer genomics and genomics research
• Coaching and tools for participant engagement are also important components that can enhance understanding of genetic test results

The conference wraps up with concurrent sessions on Friday.

The Mayo Clinic Center for Individualized Medicine is hosting the conference with support from the Satter Foundation.

Keep the conversations going

For a wrap up and summary of  news related to the conference on the Center for Individualized Medicine, visit our blog, Facebook, LinkedIn or Twitter at @MayoClinicCIM and use the hashtag #CIMCon16.

With this year’s conference winding down, you’ll want to save the date for next year’s Individualizing Medicine Conference.  It will be held Oct. 9 to 11, 2017.

Tags: #CIMCon16, #Dr. Jill Hagenkord, #DTC genomic tests, #Home DNA tests, #Justin Kao, center for individualized medicine, Dr. LeRoy Hood, Dr. Marshall Summar, mayo clinic, Precision Medicine, Uncategorized