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Smartphone sperm test could screen for infertility

What would happen if screening for male infertility was just about as easy as taking a pregnancy test in your home bathroom?

That’s the question researchers at Brigham and Women’s Hospital and Massachusetts General Hospital tried to answer when they went about developing a smartphone-based test that men could use to test their semen in the comfort of their homes.

The test delivered impressive results, identifying abnormal semen samples with approximately 98 percent accuracy according to the researchers, who published their findings Wednesday in the journal Science Translational Medicine.

Infertility affects up to 12 percent of the male population worldwide. Though it’s as common as female infertility, it often goes unrecognized due to factors like cultural stigma, the high cost and time required for testing, and access to laboratory facilities. 

As things stand now, men have to provide samples “in these specific rooms in hospitals under so much stress and embarrassment,” the study’s principal investigator, Hadi Shafiee, PhD, told CBS News. 

His team’s new approach aims to change that with a simple and inexpensive at-home test option. 

The smartphone-based test involves several distinct parts: one, a disposable device on which to place the sample, including a disposable microchip that handles the sample; two, an optical attachment that connects to a smartphone; three, an app that guides the user through each step of testing. The researchers say the optical attachment could be created by 3D-printing, and the device would only cost about $5.

The testing kit also includes a tiny weight scale that connects wirelessly to the testing app and measures the total number of sperm swimming in the sample. 

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The March 22, 2017 cover of the journal Science Translational Medicine depicts a smartphone-based test for male infertility. 

Gilank Bara Verdana / Ravastra Design Studio, Science Translational Medicine

The researchers tested the device on 350 clinical semen specimens in Massachusetts, including both trained and untrained users in their trial.

“The accuracy of this approach was very similar to that of computer-assisted laboratory analysis, even when it was performed by untrained users with no clinical background,” they wrote in the study.

The app is similar to a fitness tracker, in a sense, in that it stores any history of previous semen samples as well. The app’s user experience is hard to forget: users can see vivid moving images of their sperm right on the screen. 

Though the system is in the prototyping stage, it could eventually shake up the world of fertility testing by allowing men to evaluate their sperm in their own homes and helping health centers with fewer resources offer easy, cheap testing. 

In addition, the developers say it could also potentially be used by men who have had a vasectomy to monitor their progress at home following surgery. Currently, they’re required to make office visits to a urologist for several months to ensure that the operation was successful.

Shafiee’s team plans to continue refining the test and then file for approval from the Food and Drug Administration (FDA). Several

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Gene therapy: What personalized medicine means for you

Thuy Truong thought her aching back was just a pulled muscle from working out. But then came a high fever that wouldn’t go away during a visit to Vietnam. When a friend insisted Truong, 30, go to an emergency room, doctors told her the last thing she expected to hear: She had lung cancer. Back in Los Angeles, Truong learned the cancer was at stage 4 and she had about eight months to live.

“My whole world was flipped upside down,” says Truong, who had been splitting her time between the San Francisco Bay Area and Asia for a new project after selling her startup. “I’ve been a successful entrepreneur, but I’m not married. I don’t have kids yet. [The diagnosis] was devastating.”

Doctors at the University of Southern California took a blood sample for genetic testing. The “liquid biopsy” was able to detect tumor cells in her blood, sparing her the risky procedure of collecting cells in her lungs.

Genetic sequencing allowed the lab to isolate the mutation that caused her cancer to produce too much of the EGFR (epidermal growth factor receptor) protein, triggering cancer cells to grow and proliferate. Fortunately, her type of mutation responds to EGFR-targeting drugs, such as Tarceva or Iressa, slowing tumor growth.

Unlike chemotherapy, which blasts all fast-growing cells in its wake,  targeted treatments  go after specific molecules. That makes them more effective at fighting particular types of cancers, including breast, colorectal and lung cancers. Now the approach is being expanded to fight an even broader range of cancers. It’s all part of a new wave in health care called personalized, or precision, medicine .

“This is the future of medicine,” says Dr. Massimo Cristofanilli, associate director for translational research and precision medicine at Northwestern University. “There is no turning back. The technology is available and there are already so many targeted therapies.”

Deep understanding

Most medical treatments have been designed for the average patient, leading to a one-size-fits-all approach. But with vast amounts of data at their disposal, researchers now can analyze  information about our genes , our family histories and other health conditions to better understand which types of treatments work best for which segments of the population.

This is a big deal. But it requires the know-how of geneticists, biologists, experts in  artificial intelligence  and computer scientists who understand big-data analytics. Several startups have already begun this work.

Deep Genomics , founded by researchers at the University of Toronto, uses AI to predict how genetic mutations will change our cells and the impact those changes will have on the human body.  Epinomics , co-founded by scientists and physicians from Stanford University, is building a map of what turns our genes on and off, giving physicians a guide they could use to craft personalized therapies. And  Vitagene , a small San Francisco startup, provides personalized advice on nutrition and wellness based on your DNA.

Just like Facebook learns to automatically recognize Aunt Martha in your family photos, Deep Genomics finds and

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9 deaths linked to rare cancer from breast implants

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