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Posts Tagged ‘Personalized medicine’

… but not like this.  Try openSNP.

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when you realize that the genetic risk of that allele you carry was calculated using a small population from south-western-upper-middle-eurasia-stan … and doesn’t really apply to your individual situation.

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thank you ugly renaissance babies.

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Perhaps just a little bit.  One Law Professor’s experience.

“As it happens, … It turned out that I had a genetic variant that implied a moderately increased risk of meningioma, the second most common type of brain tumor.

The information came a little late to be useful. Last summer, … found me half conscious on the floor. The diagnosis at the local hospital was meningioma, a benign (i.e. non-cancerous) tumor inside my skull but fortunately outside my brain.”

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Check out the Interpretome! developed by students and staff at Stanford University.

– I have 17 European alleles and 3 East Asian alleles … the genetic proof is in … white boys can’t jump.
– I have 17 out of 32 Type 2 Diabetes risk alleles … put down those carbs now … and 19 out of 30 Coronary Artery Disease risk alleles … and go for a jog.
– I have a combined Risk of Narcolepsy: 2.92 … but the score jumps to 85 with an issue of GENETICS in my hand.
– I’m not exactly on the leading edge of human evolution … a 72/110 of positive selection score.
– I’d better start saving for a long-ass retirement … probability of extreme longevity: 78.2

More on the interpretome here, here and here!

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“Listen Eric, you should think about how useful your newfangled Personal Genome is going to be.  There are a lot of reasons why all this information doesn’t tell you much”

“For example, have you thought about epigenetic effects that might be environmentally induced and can be transmitted across multiple subsequent generations?  Genotypes of individuals in previous generations might even be a better predictor of phenotype than an individual’s own genotype.”

“I know that Copy-Number Polymorphic (CNP) duplications are highly variable among individual and are considered inaccessible by most existing genotyping and sequencing technologies, but I’m still getting my genome sequenced anyway.”

“Can you please help Eric understand that rare variants and large variants (deletions, duplications and inversions) are individually rare, but collectively common in the human population might account for much more of heritability than common variation.  Nothing is known about these rare variants!”

“Yeah, Eric doesn’t realize that a very large number of closely linked genes can exhibit context-dependent and non-additive effects.”

“Gene by environment innnterraaaaactiiooon … coooool.”

–real science here.

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Dear Mrs. Jones,

The genetic profiling results show that your son carries 2 copies of the so-called “short” allele at the serotonin transporter linked polymorphic region (5-HTTLPR) and also 2 copies of the T allele of the G-703T polymorphism (rs4570625) in the tryptophan hydroxylase-2 (TPH2) gene.

Some studies find correlations between this genotype and higher amygdala activity – which, in turn – has been correlated with a number of anxiety-related traits and disorders.

In short, you may wish to expect that your son may grow up to be slightly more shy, bashful, diffident, inhibited, reticent, shrinking, hesitant, timid, apprehensive, nervous, wary, demure, coy, blushing, self-effacing, apprehensive, fearful, faint-hearted, wimpish, mousy, lily-livered, weak-kneed, unsure & doubtful.

Congratulations!  He will be a handful to raise as a child but one day make a great scientist, and an even better science blogger.


* thanks fyns for the pic.

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