Increasing Benefits of Genetics – Paul Sonnier, Digital Health Announcement
I sent the following announcement to 14,087 Digital Health group members on Dec 27, 2012:
Dear Digital Health group members,
It’s been an exciting year in digital health and it’s my sincere pleasure to facilitate knowledge sharing and connectivity via the group. In the new year I’ll be launching a major new service that will provide additional ecosystem value and further catalyze digital health around the globe.
In this update:
(1) Top Genetic Findings of 2012
(2) New Year Message
(1) TOP GENETIC FINDINGS OF 2012
Last week, consumer/personal genetics company 23andMe shared their picks for the top ten genetic findings of 2012:
– A Genetic Variant Protective Against Alzheimer’s Disease (APP variant)
– ENCODE Project Creates a Map of the Uncharted Areas of the Genome
– Noninvasive Prenatal Sequencing
– New insights into a group of rare blood disorders known as MPNs
– New Insights into Human Origins and Evolution
– Family Medical and Genetics Used Together to Predict Disease
– Older Dads’ Biological Clocks
– Breast Size Matters, But Not How You Think
– New Treatment for Cystic Fibrosis
– Autism Study Reveals No Genetic Associations
After seeing a tweet by Dr. Eric Topol mentioning that the APP variant was a significant finding, I asked him if he could elaborate a bit more. He graciously shared the following for this group announcement:
“The discovery of APP variant that is markedly protective against Alzheimer’s and any cognitive decline is a Nature’s secret that would help us develop a preventive strategy—and there is already a drug class in development (Beta-secretase inhibitors) that fits the mechanism. Moreover, about 1 in 200 people have this variant so they are extremely lucky.” For more on this, see Dr. Topol’s video blog on the topic as well as his experience getting his whole genome sequenced (apparently he does not have the APP variant).
Consumers are becoming increasingly aware of genomics and the benefits of genetic testing. According to a recent survey, approximately 50% of Americans are interested in learning about genetic testing for disease risks. And as more people are sequenced – i.e. in the millions, as 23andMe is pushing for – we’ll move beyond identifying a few disease susceptibility variants, drug response indicators, and genetic diseases, to identifying various conditions via phenotype matching of rare low-frequency variants. This will also lead to an increasing utilization of pharmacogenomics, which is a way of optimizing drug therapy based on a patients’ genotype.
This is one aspect of the drive towards disease prevention enabled by digital health, which is graphically depicted in this infographic.
NEW YEAR MESSAGE
As group members have witnessed, the past year has been characterized by an explosion of interest and activity in digital health. I want to thank ALL of you for your efforts in catalyzing digital health around the globe! Awareness both informs our activities and makes us message multipliers. So keep up the great work, which is helping to improve the health and wellness of all of us and our family members.
Here’s a brief commentary from the Popper and Company team on what’s happening in the super-convergence that is digital health – and even a few health and medical apps you may want to check out.
Lastly, here is the Digital Health group’s mission and overview.
Happy New Year!