Roundup of the Future of Genomic Medicine Conference

Over 450 people registered for last week’s Future of Genomic Medicine V Conference, held on March 1st and 2nd and hosted by the Scripps Translational Science Institute in San Diego, California. Held at the picturesque Scripps Seaside Forum, the meeting addressed issues relevant to whole genome and exome sequencing, pharmacogenomics, and idiopathic diseases (diseases that develop without an apparent or known cause).

The human face of genomic medicine was illuminated by the meeting’s opening “panel”: the Beery family, whose adolescent twins Noah and Alexis were misdiagnosed with cerebral palsy as toddlers. The twins suffered for a decade with difficulty standing, walking, talking and breathing normally until parents Retta and Joe Beery, suspecting another underlying disorder, pressed to have the twins’ genome sequenced. Joe Beery is also the Chief Information Officer at Life Technologies, whose SOLiD sequencing technology was used to test the twins. Sequencing indicated that Noah and Alexis suffered a rare form of dopamine-responsive dystonia, which had an inexpensive and effective treatment. The twins regained normal movement ability and development after treatment. The Beery family’s story is featured in this video:

With a story like this to kick off the conference, it was unsurprising that one of the meeting’s take home messages was that genomic sequencing should guide the diagnostic process in certain clinical situations: “Sequence first, ask questions later,” quipped Stanley Nelson, MD, Professor of Human Genetics at UCLA in his talk on rethinking clinical practice for rare diseases.

The meetings’ two days of presentation from scientists, physicians, and industry leaders, as well as journalists and regulatory experts, dove into a wide array of topics in the field in addition to the role of genomics in clinical diagnosis. Some highlights: a talk by Michael Hayden, PhD on predicting adverse events with commonly used drugs, a presentation by Leila Shepherd, PhD from the UK-based DNA Electronics on DNA transistors and handheld sequencing, and a talk by Reed Tuckson, MD, Executive Vice President and senior clinician at UnitedHealth. Tuckson stood out in his effort to contextualize genomic medicine within the healthcare landscape, which, according to Tuckson, needs to provide actionable intelligence to make progress in the current ecosystem that is characterized by high costs and driven by reimbursement practices. “I don’t care at all about innovation for innovation’s sake; what I am interested in is disruptive [technologies] replacing a more expensive and less effective traditional dimension,” said Tuckson.

But the unquestionable if unofficial keynote was Eric Topol’s talk on the creative destruction of medicine, which shared its title with his recently published book (a copy of which was given to each attendee). Dr. Topol, a cardiologist and Director of the Scripps Translational Science Institute, energized the meeting as he painted a portrait of how innovations in digital health and genomic medicine will change the healthcare landscape. Perhaps his strongest message was one of support for a healthcare system that centers on the consumer, lamenting the medical establishment’s reluctance to adapt and criticizing the clear lack of transparency in health data available to patients. Topol no doubt has an important role to play in connecting the worlds of academic medicine and science and health entrepreneurship, and nowhere was this more evident than at the Future of Genomic Medicine Conference.

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