Last week, I attended the International Congress of Human Genetics conference in Montreal.
Overall, it provided a wonderful and thorough update on the state of genetic research, practice, and plans – bravo to the show organizers and all presenters!
Below are the top seven thoughts I heard in my sessions and around the conference:
1. “We’re all a brotherhood of mutations”
… a wonderful expression of community by Michael Hayden of Canada’s Center for Molecular Medicine that was met with loud applause in the Medical Genetics panel debate. It was a welcome counter to Dr. James Watson’s disturbing “some people are genetic losers” from the starting panel the day prior.
2. “I was assigned this case by a computer and it was a stroke of great providence that my clerk had a PhD in molecular biology”
… testimony from U.S. District Court Judge Sweet who, of course, ruled to invalidate the Myriad BRCA patents. The audience in this “Who Owns the Gene” panel was wowed with his presence and clearly leaned anti-patent — best expressed by a member who proclaimed “Darwinian selection will eliminate gene patents”.
3. “Targeted NGS for the clinic is ‘ready-to-go’”
… a confident claim made by Ming Qi of the Zhejiang Medical School and buttressed by Joris Veltman who is today using NGS for clinical work in blindness at the University of Nijmegen. Hayden raised serious warnings of over-promises and incidental consequences but the Medical Genetics debate settled on “acting on what we know” and coined the handy term “targeted interpretation”. Representing the general MDx market and in related conversations, Dr. Roberta Pagon of GeneTests suggested that consolidated gene panels would be a common entry point to NGS for many labs.
4. “This would have saved $7M and prevented 400 adverse events”
… the result of a retrospective PGx simulation by Vanderbilt on 53K patients over a six month period. Dr. Schildcrout also reported that ADR is the 4th largest cause of death in the US, killing 106K patients per year, and that PGx has grown from a start by the FDA in 2007 to over 100 drugs now carrying PGx labels. Dr. S. Qin reported that China now runs a nation-wide network to collect and share adverse events.
5. “Physicians don’t want to learn it ALL, they want to learn ENOUGH”
… telling observation made by Dr. Farndon of the UK Genetics Education Center, which has been training physicians in genetics for over six years. ACHG president Lynn Jorde stressed the need for this continuing education in U.S., noting that only 26% of physicians have a genetics education and only 10% make use of PGx. Good news on when that happens — MEDCO reported that, in a Labcorp-supported study, 50% of physicians took advantage of a piloted PGx system when deciding treatment and 40% of the time changed treatment when directed.
6. “We all seek a global phenotype/genotype database”
… perhaps the most resounding agreement by the Medical Genetics panel and declared by Han Brunner of the University of Nijmegen (and one of the better moderators I’ve come across). In separate discussions with lab leaders Heidi Rehm (Partners) and Madhuri Hegde (Emory), it’s clear to me that, while such a “mother of all databases” will be some time coming, indeed academic/commercial collaborations will make transformational and practical progress for health care in this direction in 2012.
7. “Give patients the choice”
… not exactly a quote but my paraphrasing of the ethics panel consensus on the issue of informing patents of incidental findings from whole-genome sequencing. More generally, I’m a believer that, as more personalized medicine services emerge and news of their life-changing benefits escapes, patients will demand more information, become the fastest learning group in health care, and serve as a positive and major force in this disruption.
Oh, and…
8. “Maybe we spend a couple weeks in Burlington every winter”
… from a quite smitten skier and wife, after our stay in northern VT on the drive from Boston.
