Stories about: preventive medicine

DNA sequencing in newborns: Where do we go from here?

sequencing in newborns - BabySeqCan sequencing of newborns’ genomes provide useful medical information beyond what current newborn screening already provides? What results are appropriate to report back to parents? What are the potential risks and harms? How should DNA sequencing information be integrated into patient care?

Four teams from across the country will converge this week (April 8–10) in Kansas City, Mo., to address these questions and share learnings from NIH-funded pilot projects. The four teams, comprising the NIH’s Newborn Sequencing In Genomic medicine and public HealTh (NSIGHT) project, will give updates on their work at the 6th Annual Pediatric Genomics Conference, hosted by Children’s Mercy Kansas City.

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Pediatric Innovation Summit: top 5 takeaways

_InnovationSummit0106Boston Children’s Hospital convened the National Pediatric Innovation Summit + Awards 2013 with an ambitious goal: to bring together thought leaders to address the toughest challenges in pediatric health care. During the two-day summit, a series of panels and town hall discussions sparked dynamic dialogue.

While the summit was designed as a forum for ongoing discussion and relationship building, five key takeaways have emerged.           

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Autism at the cusp: Better metrics and objective measures needed

Ruler-metric-shutterstock_70841518There’s been an explosion of scientific research in autism—from mouse models of genetic syndromes involving autism to culturing neurons from stem cells derived from patients’ skin to tracking EEG patterns in infants whose brothers or sisters have autism.

So I expected yesterday’s panel on Piecing Together the Autism Puzzle, part of Boston Children’s National Pediatric Innovation Summit, to be about the science. I changed my seat just before it started, so I could better view the slides.

Instead, the conversation turned to the insurance, public health and social justice aspects of autism. Take, for example, the rising incidence of autism, which the CDC places at 1 in 88 (and 1 in 54 in boys). Panelist Ami Klin, PhD, director of the Marcus Autism Center at Children’s Healthcare of Atlanta, noted that between the CDC’s 2002 and 2008 reports on autism, there was close to a 101 percent increase in autism prevalence in Hispanics and a 96 percent increase in blacks.

Thousands of children didn’t suddenly develop autism in a six-year span; rather, more were diagnosed with autism as awareness of the disease increased. Even so, diagnoses often don’t occur until a child is 3 to 5 year old, and only 2.5 percent of diagnostic assessments of autism are using the field’s best standardized tools. While multiple diagnostic tests are being researched—like EEGs or blood tests looking at gene expression—they’re still experimental.

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