Stories about: Diagnostics

An online portal for undiagnosed patients


Prospects are looking up for patients who have no explanation for their symptoms despite extensive investigations and testing. There’s a growing revolution in DNA diagnostics (see yesterday’s example) and ongoing work to bring clarity and meaning to sequencing data. Patients with similar symptoms can find each other like never before, and are increasingly empowered to lead in research and discovery.

Another small but important development was announced yesterday by the National Institutes of Health. The NIH’s Undiagnosed Diseases Network (UDN) has opened up a one-stop online portal called the UDN Gateway where patients and families can apply for access to expert team analysis and testing. (A referral letter from a provider is required.)

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Focused genetic testing approach ends a 32-year diagnostic journey

Claritas-JackieSmith3-croppedSome 7,500 rare disorders are known to be caused by single-gene mutations. Most of these disorders first appear at birth or in childhood, and for about half, the responsible gene has been identified. Yet, on average, families with rare disorders spend 12 years searching before getting a correct diagnosis.

Jackie Smith, a 35-year-old mother of two, searched for 32 years for the cause of her muscular weakness. Her parents knew something was wrong soon after she was born. At first, because her ankles turned in, they thought she was bow-legged.

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Undiagnosed families hold on as genome competitors look for explanations

undiagnosed patients await answersThe CLARITY Undiagnosed Challenge is heating up. Biomedical teams from seven countries are racing to interpret DNA sequences from five families affected with undiagnosed illnesses—some with gravely ill children, some already bereaved, all desperate for answers.

In July, the 26 competing teams received whole-genome and whole-exome sequence data from each patient and close family members, along with clinical notes and patient videos. Their reports, due September 21, will be judged by an independent panel based on:

  • the methods used to analyze and interpret the sequence data
  • the ability to synthesize the information
  • clinical usefulness, care recommendations and “next steps.”
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When your child isn’t just rare, but probably one of a kind

Savoie at home with 4-year-old Esmé in New York.
Savoie at home with 4-year-old Esmé in New York.

Hillary Savoie, PhD, founder and director of The Cute Syndrome Foundation, is author of Around And Into The Unknown, chronicling her family’s journey to find a diagnosis for Esmé, and Whoosh, about coming to terms with Esmé’s early medical complications.

I think my daughter Esmé is extraordinarily unique—from her tiny pudgy feet that she likes to stuff in her mouth to her beautifully lashed blue eyes and outrageously untamed hair. It’s a mom thing. I guess it is a symptom of loving another person more than life itself.

But my daughter is also unusual in a more scientific way: in her genes. 

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Detecting Ebola within minutes: A treatment and containment game changer


Tests for detecting Ebola in the blood can take anywhere from 12 hours to four days to yield results. But a recent study published in The Lancet reveals that a new point-of-care test can accurately determine results in mere minutes—another step toward potentially controlling the spread of Ebola.

Nira Pollock, MD, PhD, senior author of the paper and associate medical director of the Infectious Diseases Diagnostic Laboratory at Boston Children’s Hospital, along with researchers from Harvard Medical School and Partners In Health, showed that a commercially developed rapid diagnostic test (RDT), called the Corgenix ReEBOV Antigen Rapid Test kit, was as sensitive as a conventional laboratory-based method used for clinical testing during the recent outbreak in Sierra Leone.

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Pediatric innovators showcase highlights inventions

Innovators Showcase Boston Children's HospitalSome great inventions were on view this week at the second annual Boston Children’s Hospital Innovators Showcase. Hosted by the hospital’s Innovation Acceleration Program and Technology & Innovation Development Office, the event featured everything from virtual reality goggles with gesture control to biomedical technologies. Below are a few new projects that caught Vector’s eye (expect to hear more about them in the coming months), a kid-friendly interview about the SimLab and list of inventions kids themselves would like to see. (Photos by Katherine Cohen except as noted)

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What we’ve been reading: Week of April 6, 2015

What we've been readingExome sequencing comes to the clinic (JAMA)
An approachable and thorough summary of the growing trend, describing the ways in which sequencing can help provide a diagnosis, the diagnostic yield (as high as 40 percent or more, depending on the population), how often the results have changed treatment decisions and the question of who pays.

Who Owns CRISPR? (The Scientist)
Excellent coverage of the escalating patent scramble for genome editing.

Doctors Make House Calls On Tablets Carried By Houston Firefighters (NPR)
Interesting use of telemedicine in Houston, where many people call 911 in non-emergency situations. EMTs carry tablets, and can have callers chat with a physician on a video app, avoiding the need to take them to the ED.

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Boston Children’s to host second annual Innovators’ Showcase

Ten or more monitors keep track of every child in the ICU. How can clinicians manage all the data they provide?  Surgical Sam beating heart pediatric trainer mannequin simulation Simulator Program The Chamberlain GroupA prototype of the warming pad. The white color indicates that the pad's "phase-change" material is in its solid state. (Courtesy of Anne Hansen)Silk worms could create tissues needed for urinary tract reconstruction.


(Clockwise from top: T3, Surgical Sam, non-electric baby warmer, silk-based organ reconstruction)

Next week—on April 15—Boston-area visitors can sample inventions and technologies from around Boston Children’s Hospital, some in development and some already in use. More than 20 medical innovations will be on display in an interactive “science fair” format. We’ll be demonstrating a variety of medical devices, mobile applications, software IT innovations, wearables and bioengineering innovations. It’s free and open to the public.

The event is hosted by Boston Children’s Innovation Acceleration Program and Technology & Innovation Development Office, from 2 to 4 p.m., followed by networking time (4 to 5 p.m.).

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SXSW Interactive 2015: Our future selves, a maturing health tech industry and why failing is productive

SXSW Impact Pediatric HealthJudy Wang, MS, is a program manager in the Telehealth Program at Boston Children’s Hospital.

In 2012, when I attended the South by Southwest (SXSW) Interactive conference for the first time, health tech was still an emerging field. It was the first year the world’s leading conference for emerging technology and digital creativity made any effort to include health tech programming, and the first time its Accelerator pitch event included a category for health tech startups.

Only three years later, SXSW Interactive (March 13­–17, 2015) has grown to include almost 50 events related to health and medical technologies. Martine Rothblatt, CEO of the biotech company United Therapeutics, gave a keynote titled “AI, Immortality and the Future of Selves” that was both inspiring and provocative. She spoke to a world in which our 24/7 selves are increasingly being captured digitally. Audience questions captured by Twitter pondered the ethical implications of what Rothblatt called “mind clones”: future mechanical beings digitally programmed with our mannerisms, habits and memories.

This year also featured the Impact Pediatric Health pitch competition, captured in this Storify.

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Web offerings talk up the promise of genetic testing, but skip the limitations

Using a computer personalized cancer medicine direct to consumer genetic testing

We all remember how the genetic testing firm 23andMe roused the FDA’s ire in 2013, earning itself a warning letter to stop marketing its direct-to-consumer Personal Genome Service. The kerfuffle, though partially resolved, remains at the center of an ongoing debate in diagnostic and regulatory circles over laboratory-developed tests (LDTs) offered directly to the public, and the agency’s role in regulating those tests.

But like nature, business abhors a vacuum, and longs to fill it. Many companies and institutions have already jumped into the LDT ring, offering up genomic or pharmacologic services that they say would help guide patients’ and doctors’ treatment decisions and improve outcomes. Especially for patients with cancer.

How solid is the science behind these claims? And do vendors do a good job disclosing the strengths and weaknesses of personalized medicine? Those questions form the core of a study published this week in the Journal of the National Cancer Institute.

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