There is a great story making the rounds in the personal genomics community of the value of sequencing an individual’s genome. It’s a great story on a number of levels. A child suffering with a mystery illness has his sequence determined, and a novel mutation was found. And it led to useful interventions around that issue.
This is just a short post to let you know authors of that story and Howard Jacob (on of the scientists who did the work) are going to be on my local NPR station at 10am ET discussing this, and the issues around this type of sequencing and information. At least I’m led to believe that from the teaser I heard this morning.
To tune in live, you can stream from the story page. Or you can check back in later when they post the audio:
Milwaukee Journal Sentinel Wins The Pulitzer on On Point, WBUR.
Another piece about this was at Forbes: The First Child Saved By DNA Sequencing .