Why Do Women Matter in the Unfolding of Precision Care for Kids?

It’s great to be posting once again for Disruptive Women in Health Care and to be writing about Precision Care, a concept in which patient care is tailored to each individual’s unique characteristics.  I’ve taken a five year break and it’s amazing to look back at my prior posts.  In 2010, I wrote…”the promise of the $1,000 genome is over the horizon. …Yet while this addresses technological innovation, does it deliver impact on health care?”  Now in 2015, both the $1,000 genome is here (at least the sequencing portion) and the work ongoing at my company, Claritas Genomics delivers genome knowledge that makes a difference for guiding precision care for children.  Today, with the work we do, I can clearly answer – “Yes, we deliver impact on health care.”
Let’s set the context for you. Today, there are more than 25M people in the United States who have a rare disorder. Amazing fact isn’t it?  Rare doesn’t look so rare anymore.  The striking fact is that the majority of these are children. Further, in these children, there is a strong likelihood that the child has what we refer to as a Mendelian Disorder in which genetics provides a high chance of diagnosing their disorder.  Furthermore, the ability to accurately diagnose offers hope for guiding precision care for these kids today.  But the challenge we see is that these children are not being diagnosed. Why? The problem is the complexity of the healthcare system and the complexity of the in...

Source: Disruptive Women in Health Care - November 18, 2015 Category: Consumer Health News Authors: dw at disruptivewomen.net Tags: Genetics Source Type: blogs