Ed Yong has followed the touching story of the Grossman family, whose daughter Lilly has suffered throughout her life from a serious and unknown disorder: "“We Gained Hope.” The Story of Lilly Grossman’s Genome". Recent developments in whole-genome sequencing have allowed geneticists to find the underlying genetic causes for her problems, which has led to the first hope of treatment for her.
“Every birthday was a hard one—missed milestones and another reminder that we still didn’t know what’s wrong with her,” says Gay. When would the sand eventually run out? This year? The next one? “When you don’t know what you’re dealing with, and you’re up all night with your kid crying and shaking like crazy, you think: Does anyone even remember this is going on? Nobody knew what to do with us.”
Lilly's story will not be typical, but Yong's account gives great insight into both the promise and lack of clear outcomes that will often result from genetic testing. When your particular problem is nearly unique, it will help a lot just to know what the causes are. But that doesn't mean an effective treatment will be available, and developing effective treatments for very small patient populations will remain financially difficult.
The story is beautifully written and I recommend it for students.