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Traditional Diagnostics vs. Genomic Testing

Posted on Thu, Aug 28, 2014 @ 03:00 PM

In my last Map of Biomedicine blog post, I discussed companion diagnostics and the FDA approval process for such tests. In this post, I’ll be talking a little bit about research use only (RUO) tests and use that to segue into a discussion about a kind of test that is going to turn diagnostic testing on its head.

The distinction between RUO tests and the clinical tests we’ve been discussing is pretty simple. RUO tests are used only in research studies with consenting participants. The big catch is that the results of the tests won’t be used to change the patient’s treatment. On top of that, the results are often anonymized so that the researcher doesn’t even know who the participants are.

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Tags: map of biomedicine

Diagnostics: A DIY Approach

Posted on Tue, Aug 26, 2014 @ 03:00 PM

Here's one that most of us probably shouldn't try at home: a do-it-yourself approach to diagnostics to get at the
root cause of genetic illnesses. Extreme athlete Kim Goodsell did - including genomic sequencing and writing her findings in white paper - and changed the course of the debilitating diseases that were impacting her life.

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Tags: diagnostics

The Genomics Behind the Cancer that Killed Bob Marley

Posted on Thu, Aug 21, 2014 @ 03:30 PM

When reggae legend Bob Marley noticed the discoloration under the nail of his big toe, he assumed that it was a bruise. Marley, an avid soccer player, assumed that he'd injured his toe during a friendly match. By the time he realized that the discoloration was cancer, it was too late.

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Complete DNA Sequencing for the Domestic Cat? Done!

Posted on Tue, Aug 19, 2014 @ 03:00 PM

An international team of researchers announced this month that they have sequenced the entire genome of the domestic cat. Specifically, they have sequenced the genome of Cinnamon, a female Abyssinian cat from the University of Missouri. Because there are roughly 250 diseases that cats and humans have in common, the research has implications for improving human health, as well as the the health of the internet's favorite furry friend.

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Tags: DNA sequencing, DNA, human genome

Liquid Biopsy - Curing Cancer from the Inside Out, Ctd.

Posted on Thu, Aug 14, 2014 @ 03:00 PM

Last week, we did a post on curing cancer at the gene-level. But what about using genes to diagnose cancer? A feature story in the MIT Technology Review looks at research happening at Johns Hopkins University on that very possibility.

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Tags: cancer, Genomics, 5AM, diagnostics, Cure

Newborn Screening is Personal

Posted on Tue, Aug 12, 2014 @ 03:15 PM

It's no secret that we human beings will go to great lengths to keep our families safe and healthy. In the late 1940s, Dr. Robert Guthrie, a cancer doctor, learned that his son, John had mental retardation. About a decade later, after switching his focus to finding the causes of mental retardation, Dr. Guthrie's niece was born with phenylketonuria (PKU), a genetic disorder that prevents the body from metabolizing the amino acid phenylalanine. Untreated, PKU can lead to mental retardation.

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Tags: genetic testing, 5AM, newborn screening

Curing Cancer from the Inside Out

Posted on Thu, Aug 07, 2014 @ 12:00 PM

Over the past year, The Atlantic magazine has published several articles on curing cancer. Overall, the tone in each article is hopeful, but balanced.

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Tags: cancer, personalized medicine, diagnostics, Cure