1 posts tagged “ALS genetic search engine”

Moving Genetic Data Discovery Forward

Posted October 26th, 2011 by

In August, we proudly announced that PatientsLikeMe Research Scientist Catherine Brownstein, PhD, MPH, had won a prestigious “Young Investigator Award” from the International Congress for Human Genetics (ICHG). As promised, here is Catherine’s first-person report from the conference, held October 11-15, 2011, in Montreal.

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12th International Congress of Human Genetics

The 12th International Congress for Human Genetics (ICHG) was a fantastic learning experience with 7,200 geneticists, doctors and researchers in attendance – making it the largest ICHG ever.  The talks were of the highest quality, and the latest genetics research was presented and discussed.  It was an honor to give one of these presentations, since only 8% of those who applied were awarded the opportunity.

That brings me to the main purpose of this blog post: A big THANK YOU to the members of PatientsLikeMe. Your data made our presentation possible. I spoke about the ALS pilot program for genetics entry and search functionality, which allows ALS patients to enter their causative genetic mutations (such as SOD1 A4V, SOD1 D90A and VAPB P56S) and find others with the same genetics. It was a groundbreaking project, and we hope to implement it site-wide in the near future.

I also presented some of the key results from our recent survey on genetic testing:

  • 16% of you have had some form of genetic testing.
  • Of those who have been tested, 31% have had a direct-to-consumer genetic test.
  • If cost were NOT a consideration, 83% of you would be at least moderately interested in getting a comprehensive personal genetic test.
  • 68% of you said you would be at least moderately interested in finding others with the same genetics as you.

Thanks again for your participation in the survey, for being members of PatientsLikeMe and for sharing in our research efforts. I hope that next year I’ll be presenting PatientsLikeMe’s site-wide genetics functionality.

PatientsLikeMe member cbrownstein