Up at 5AM: The 5AM Solutions Blog

Yesterday evening, the Wall Street Journalreported on its website that researchers at the Texas A&M Health Science Center are closing in on faster, more accurate diagnostics for tuberculosis. The infectious disease usually attacks the lungs, but it can spread to other parts of the body -- extrapulmonary tuberculosis in those cases -- through the air from person to person. Although it is relatively rare in the U.S. it is not unheard of; tuberculosis (TB) made headlines when a woman with extensively drug resistant TB (XDR TB) was admitted to NIH.

Although researchers can’t quite toss out their microscopes, two new studies reported in the New England Journal of Medicine show that variations in brain tumors’ genomics can be used to determine the best course of treatment for patients with certain kinds of tumors. For the most part, doctors have analyzed tissue samples to categorize and predict tumors’ potential trajectories. The papers’ authors show that genome scans of patients’ tumors remove several degrees of subjective analysis leading to more accurate diagnostics and earlier, better treatments.

Two new studies published in JAMA this week confirm that amyloid plaques on the brain predict future Alzheimer's Disease (AD). What's more, there is evidence that the plaques appear decades before patients experience the cognitive declines associated with AD. Researchers have long suspected that amyloid plaques precede the disease, but according to an article in the New York Times, this new research is "[t]he largest analysis to date of amyloid plaques in people’s brains [and it] confirms that the presence of the substance can help predict who will develop Alzheimer’s and determine who has the disease."

The New York Times reported today that Color Genomics, a Silicon Valley startup has raised $115 million to make a $249 genetic test a reality. The test identifies faulty BRCA, as well as more than a dozen other cancer-related genes. BRCA1 and BRCA2 mutations are responsible for increasing women’s risks for developing certain breast and ovarian cancers. Filmmaker and actress Angelina Jolie has made headlines over the past few years for her decisions to undergo a preventive mastectomy, and more recently, a preventive oophorectomy in response to her own gene-related disease risks.

Today, I’m going to broaden the topic of diagnostics to talk about the most important person in this discussion - you! 

I’ve been focusing on diagnostic tests that your doctor orders for you. But there are some tests that you can buy yourself. For instance, you can go to a drugstore right now and buy a pregnancy test, a diabetes blood sugar test, or even a home drug test. These are often called direct-to-consumer tests. For a test to be direct-to-consumer, it has to be easy to take and the results have to be easy to understand.

In my last post I talked about accessing your health information, including the results of diagnostic tests. In general I think people should be more aware of what their test results mean, and how their physicians use those results to make decisions about treatments and other tests.

As we’ve seen in previous posts, the world of diagnostic test development is quite complicated. In addition to the multiple ways a diagnostic test can get to market, there are many different types of organizations that develop and run tests. Take a look at this zoomed-in view of the Map of Biomedicine:

The Sixth Annual Next Generation Dx Summit (NGDx) was the first conference I have attended in quite a few years. I was drawn to it by its emphasis on new research areas in clinical assay development and how the biomedical industry can bring these potentially life-saving diagnostics to market to fight diseases and benefit personalized medicine (PM). I decided to focus on two tracks for the conference. Companion Diagnostics: Strategy & Partnerships appealed to my personalized medicine interests and Clinical Application of Cell-Free DNA allowed me to see new research on a specific application of a potentially game-changing diagnostic approach.

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.