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NGS Leaders Blog

2011 Pulitzer Prize For Clinical Genome Story

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Davies_pic April 18, 2011                  

 Kevin Davies :  In recent talks about NGS and the $1,000 genome, I’ve been quipping that the recent series of articles in the Milwaukee Journal Sentinel about the inspiring tale of Nicholas Volker had “Pulitzer Prize written all over it.”

Turns out I was right. The team of journalists and photographers have deservedly won the 2011 Pulitzer Prize for Explanatory Reporting, putting a human face on the potential clinical benefit of genomic medicine.

Volker was just 4 years old when doctors at the Medical College of Wisconsin sequenced his exome in a last-gasp attempt to find the root cause of his mystery intestinal disorder that required 143 surgical procedures.

The journalists first heard about the case in 2009, not long after Volker’s physicians had decided to embark upon sequencing. They were given permission by the medical team to follow the case, which identified a mutation in a known gene, XIAP. This in turn lead to a successful bone marrow transplant. The resulting three-part multimedia story was published in December 2010: http://www.jsonline.com/dna  

The Pulitzer Prize commendation reads as follows:

“For a distinguished example of explanatory reporting that illuminates a significant and complex subject, demonstrating mastery of the subject, lucid writing and clear presentation, using any available journalistic tool including text reporting, videos, databases, multimedia or interactive presentations or any combination of those formats, in print or online or both, Ten thousand dollars ($10,000)." 

“Awarded Mark Johnson, Kathleen Gallagher, Gary Porter, Lou Saldivar and Alison Sherwood of the Milwaukee Journal Sentinel for their lucid examination of an epic effort to use genetic technology to save a 4-year-old boy imperiled by a mysterious disease, told with words, graphics, videos and other images.” 

As I reported in the latest issue of Bio-IT World, the Medical College of Wisconsin team, led by Howard Jacob, is now employing whole-genome sequencing for certain additional patients after in-depth review and consent. At least two health insurance companies have paid for the sequencing, according to Jacob.

Breaking New Ground at X-GEN Congress

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Glazer_picApril 4, 2011                  

Eric Glazer : Over 150 people filled a ballroom at the San Diego Hilton earlier this month for a panel discussion, hosted by NGS Leaders and our partner GenomeQuest, on WGS applied to clinical diagnostics. The panel discussion was scheduled during Cambridge Healthtech Institute's Second Annual X-GEN Congress & Expo. In addition to the live audience, over 200 members of the NGS Leaders community logged into the webcast. The session was engaging and informative, and we are pleased to provide members of NGS Leaders with access to the on-demand version. xgen_panel1 

In addition to the insights from participants in our panel discussion, I heard many other interesting comments throughout the week at X-GEN Congress, a conference with over 500 attendees from more than 20 countries. Many of the most interesting conversations took place outside of the sessions, in hallways or in smaller roundtables. Here I share some of the more memorable quotes...

· Countries with social medicine are more apt to participate in mass sequencing projects. 
· We need consortia that can educate the public on the risks and rewards of NGS. 
· We need to work together as an industry, even competitors, to educate physicians on leveraging NGS. 
· In 4-5 years, teenagers are going be posting their genome on Facebook for everyone to see. 
· NGS allows us to ask things we didn’t think to ask for.  
· Closing the gap between data and knowledge is our biggest challenge. 
· Making data findings actionable is the most important progress we can make (in next 24-36 months).  
· Harnessing the biologic diversity in the Amazon basin is one of the most important things we can do.  
· NGS can make dramatic changes in how healthcare works.  
· The rain forest holds cures to diseases that have yet to emerge. 



I-Study: Genomic Interpretation - Who Will Pay?
During this webinar, members of the study review team present preliminary findings of the I-Study, conducted at the Harvard Medical School's 2011 Personalized Medicine Conference.
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