Let's bring genome-scale sequencing into the clinic—safely and responsibly

Children's Hospital Boston today announced the launch of the CLARITY Challenge, a $25,000 competition intended to advance standards for genomic analysis and interpretation and the reporting of clear, actionable results to clinicians and patients. The competition marks the first time a healthcare institution has sent out a broad call for the development of consistent and clear ways of applying genomic insights to everyday pediatric and adult patient care.

CLARITY (Children’s Leadership Award for the Reliable Interpretation and appropriate Transmission of Your genomic information) competitors will be tasked with discovering the unknown genetic basis of the disorders faced by three pediatric patients and, in the process, create best practices for interpreting and presenting genomic sequence results to patients and their families and physicians in meaningful ways that can help guide healthcare decisions.

Ancestral betrayal

We share many things with our ancestors, including a fraction of their genetic code. This genetic link to the past has further invigorated an already large industry and hobby in the exploration of genealogy and historical provenance. This piece from today's news, shows how these same records can be used to leverage your ancestors to identify you. In this instance, a murder suspect is potentially fingered by his ancestors from the Mayflower.

Hat tip: Ben Reis

Costly questions

Mark Twain once said "Only one thing is impossible for God: To find any sense in any copyright law on the planet."

I was reminded of this upon reading this brief but highly illuminating article describing the delayed but then aggressively pursued commercialization of a widely taught and adopted mental health questionnaire. A newer, perhaps even superior (but free and public domain) questionnaire with a few overlapping questions has been "de-rezzed" after a copyright dispute with the vendor of the earlier questionnaire.

The right questions may help disrupt the progress of disease, but not as effectively as a well-timed exercise of copyright on questions can disrupt progress (with apologies to Mark Twain).

Hat tip: Atul Butte