We’re about to embark on “the most exciting decade in genomics,” J. Craig Venter, Ph.D., told attendees in the closing keynote address at the 2015 Individualizing Medicine Conference: From Promise to Practice. None of the 800 people gathered in Rochester, Minn., for the Mayo Clinic Center for Individualized Medicine’s fourth annual conference on genomic medicine disagreed with the CEO and co-founder of Human Longevity.
Earlier in the day, Dr. Venter announced his plans to offer clients of a South Africa-based insurance company whole exome sequencing for $250, and he hopes to expand this service to other companies in other countries. “Whole exome sequencing captures 85 percent of the important information of whole genome sequencing and is more cost effective,” Dr. Venter said, delivering his talk via telecast from Calif. “Now, people can get the exome sequenced for about the price of their monthly Comcast cable bill.”
He outlined how Human Longevity is ramping up from currently offering 3,000 tests a month to 10,000 a month. Much like President Barack Obama’s Precision Medicine Initiative, the genomics pioneer has plans to sequence one million genomes by 2020.
When moderator Cathy Wurzer, a journalist and radio host for Morning Edition on Minnesota Public Radio, asked Dr. Venter if he plans to work with the government to comingle the two databases, he answered, “Unlikely. I think this notion that you can have genome sequences from public databases is extremely naive,” Dr. Venter said. “We’re worried there will be future lawsuits from people who were guaranteed anonymity who will clearly not have it.”
Dr. Venter’s talk capped two days of plenary talks at the genomics conference.
Earlier in the morning, Stephen Quake, Ph.D., discussed what he is calling “The Molecular Stethoscope.” In it, Dr. Quake is applying his work in non-invasive prenatal testing for genetic birth defects to heart and lung transplant patients. The Stanford University researcher noted that the use of non-invasive prenatal testing doubled in one year. In 2014, 500,000 women receive the test, and in 2015, it was over 1 million.
A conversation with colleagues performing heart transplants led him to realize that the same principles involved in non-invasive prenatal genetic sequencing could also be applied to non-invasive detection of organ transplant rejection in heart transplant patients.
“I realized that a heart transplant is really just a genome transplant,” Dr. Quake said. “The same principles should apply to any solid organ transplant.”
Federal regulations of next generation sequencing and how it related to the president’s Precision Medicine Initiative was the topic of the next speaker, E. David Litwack, Ph.D., from the U.S. Food and Drug Administration (FDA).
Dr. Litwack cited four barriers to the Precision Medicine Initiative being successful: studies for variants don’t have enough participants; data and information are contained in silos and not shared; there are different interpretation from lab to lab of the same results; and FDA regulations for genomic testing need to be moderized.
“How do we drive innovation, be actively involved in data sharing, but also protect patients?” Dr. Litwack said. “That's our mission at the FDA. We want to work with the industry to get past these barriers.”
Systems genomics in cancer medicine was the focus of the talk by Edison Liu, M.D. At Jackson Laboratory, Dr. Liu and his team have discovered gene duplication in cancer cells. “The tandem duplications are enriched within the duplication,” he said. “We’ve always thought there was a driver and then passive mutations, but now we know there are driver mutations and backseat driver mutations, as well.”
Dr. Liu also added, “Each cancer is different, but the driver that gets us into the system is the same.”
In his conference recap, Alexander Parker, Ph.D., associate director of the Center for Individualized Medicine, noted another highlight of Dr. Liu’s presentation. “Dr. Liu asked a really good question: Are we going to give an oncologist a 50-page report on a patient’s genomic test? We need someone to interpret the data. I liked his analogy that interpreting genomic profiles is similar to the early days of medical imaging. We trained radiologists to interpret the images for the doctor. I agree with Dr. Liu that now we need a new class of ‘genomic radiologists.’ We need to partner with other experts to help the clinician understand what the information means.”
Dr. Parker took the news that he had lost the battle of wearing the coolest sock on stage to Dr. Gianrico Farrugia with good humor, but then turned serious for a moment. “This is a conversation,” he said. “We need to keep the conversation going if we’re going to make progress in delivering better care to the patient with individualized medicine. We don't want to practice bench to bookshelf; we want to practice bench to bedside."
The afternoon concurrent sessions focused on issue-specific topics in genomic research. Ten breakout sessions covered a range of subjects, from the role of individualized medicine in value-based care to the genomics of dementia. Other topics include epigenomics, clinical RNA sequencing and gut microbiota. Industry representatives presented at one session. Justin Kao spoke on behalf of Helix, a new venture to offer gene sequencing direct to consumers. Mayo Clinic recently entered into a partnership with Helix to provide consumer education.
There was also a poster session and an exhibitor’s hall for attendees to browse. Dr. Megan Landsverk was selected for the Featured Poster of the Day for the presentation of her research in electronic health record-integrated pharmacogenetics clinical services.
The Individualized Medicine Conference 2015 continues tomorrow, September 23, with a morning of meetings focused on specific issues in genomic medicine.
Tags: cancer, Cathy Wurzer, Dr. Alexander Parker, Dr. David Litwack, Dr. Edison Liu, Dr. J. Craig Venter, Dr. Stephen Quake, Genome Sequencing, genomic medicine, genomics, individualized medicine, Individualized Medicine Conference 2015, mayo clinic, Precision Medicine, Precision Medicine Initiative, Uncategorized