Adam Foye, a New-Jersey sixth grader, has lived much of his life with weak muscles and uncertainty. Although his symptoms match most closely with the rare muscular disorder, Centronuclear Myopathy (CNM), his genes tell a different story. The 11-year-old’s tests show no issues with the genes that indicate CNM. Adam’s mother, Sarah, said in a recent TIME story, “it has taken a very long time to get no answers.”
Check out Sarah’s Time=Lives story here.
Last year, Adam was one of three children to take part in a competition sponsored by Boston’s Charity Hospital called the Children’s Leadership Award for Reliable Interpretation and Appropriate Transmission of Your Genomic Information, otherwise known as CLARITY. More than 20 teams of international researchers competed to analyze Adam’s genetic sequence in comparison with someone who does not have CNM and translate the results into easily ready and interpretable information for patients, families, and doctors. The winning team, the Division of Clinical Genetics at Brigham and Women’s Hospital in Boston, took home $15,000 for their combined “analysis, clarity, and utility” in their reports.
Whole genome sequencing’s ability to provide key information for many currently unanswered medical questions holds great promise for the future of the healthcare industry overall. The process, which used to be priced in the billions, has dropped in cost and thus increased accessibility. However, questions still loom regarding what doctors and patients should do with their data, how that amount of data should be stored, and what guidelines need to be established to regulate the process. All of these issues need to be addressed before whole genome sequencing can be used with any regularity.
For the Foye family, it was discovered that Adam’s gene that encodes for the Titan protein is malfunctioning. Titan serves as spring in the muscle to help with contraction and expansion. Although there still is no cure for this problem, the Foyes are hopeful. “As my husband says,” notes Sarah in the TIME piece about the results of the competition, “this is not our final destination on our medical journey, but it’s an important milestone. Now we want to work toward a treatment.”
For more information on the CLARITY competition, watch: http://www.youtube.com/watch?v=T6SpWi0VJ0k&feature=youtu.be. And for further information about the potential uses of whole genome sequencing, read Gina Kolata's excellent t three-part series on the topic in the New York Times (links below).
Additional stories about the power and promise of medical research to find cures and save lives can be found on the Your Stories page of our Time=Lives campaign. Check out the site to find out what you can do to help make medical research a national priority. After all, we’ll all be patients someday.
Gina Kolata's Three-Part Series on Whole Genome Sequencing in the New York Times