MIS2017 Recap | Breaking the Code: Will Next-Generation Sequencing Bring Genomics to the Mainstream?

MIS2017 Recap | Breaking the Code: Will Next-Generation Sequencing Bring Genomics to the Mainstream?

The 2018 Medical Innovation Summit theme is Disruption: Reimagining Healthcare. For the first time, we will look beyond the walls of the hospital and explore technologies that will be used to prevent illness and readmissions on a local, national and global scale. The Summit will also examine how healthcare providers can leverage data to enable new, streamlined access for patients who require care.​ Registration for MIS2018 is coming soon!

With the steady stream of genetic breakthroughs in the last few years – from the approval of targeted therapies, gene therapies, and direct-to-consumer genetic testing, to the latest reveal of handheld genetic sequencer – it is easy to forget that we are still at the dawn of a new era of genomic medicine. Just over 17 years since the announcement of the first completed survey of the human genome, a panel of the industry’s foremost leaders joined CNBC’s Meg Tirrell for a frank discussion on how far we’ve come, but more importantly how far we have left to go.

Cynthia Collins, CEO of Human Longevity, Inc., began the panel by setting the record straight. “We understand less than 5% of what the human genome really means.” Yet Collins believes the next decades will see an enormous amount of progress, especially as we learn more about the metabolome and microbiome.

Alec Ford, President of Myriad Genetics, indicated that there is a lot of work that can be done with the tools we have today. “This year, there will be 40,000 cancers that could have been prevented or could have been diagnosed earlier by identifying those with hereditary cancer risks,” said Ford.

The panel outlined a number of challenges that will need to be checked off in order for genetic testing to be brought to the mainstream. This task list includes training more genetic counselors (or creating a new field of support for genetic counselors), as well as creating more public awareness about the benefits, or even by making the process of learning your family’s medical history more “fun”.

The biggest hurdle the panel acknowledged is reimbursement. Chris Cournoyer, CEO of N-of-One, however, is optimistic, specifically when it comes to reimbursing the genetic testing of tumors.

“I keep envisioning a world where payers and physicians are looking at the same evidence together, and then making rational decisions about that second line, third line, fourth line therapy. And often times, that therapy might be a clinical trial,” she said. Cournoyer believes this process, along with the recommendation of clinical trials, would control the “drug spend” and would ultimately be a win-win for the entire value chain.

The panel closed on an optimistic note by pointing out the remarkable progress of the field, including the growing pipeline of targeted therapies, the lowering cost of sequencing, the advent of genetic editing of CRISPR, and the trends of physicians from various fields demanding tests, including psychiatry and rheumatology, among others.

“I think there’s a lot of hope,” said Ford. “The barriers we’re going to face are very practical ones.”
 

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