Description:

Providing care tailored to individuals is at the heart of precision medicine. The recent exponential growth of DNA sequencing capabilities has given us unprecedented views of the human genomic landscape, and with this view comes the realization of the promise genetically-informed, personalized clinical care. However, for the non-genomics expert, the prospect of translating the enormity of genomics into meaningful and clinically useful information can be daunting.

In this session, we seek to make the conversations occurring now at the forefront of genetics accessible to the hematologist. Using three distinct clinical arenas, this session will touch upon technologies used to detect DNA variants, the evolving levels of evidence used to assess their significance, and discuss the implications of using genetic information in clinical practice.

First, Dr. Johnsen will review blood group genes as rich examples of genetic variation, discuss the capabilities of next generation sequencing to assign high resolution blood types, and provide examples of the opportunities and challenges of assigning relevance in complex genetic data sets.

Next, Dr. James will talk about the promises and limitations realized in targeted disease gene sequencing and the role that identifying (or not identifying) genetic variants has in the diagnosis of hemophilia and von Willebrand Disease.

Lastly, Dr. Naik will discuss the detection of sickle cell trait and the downstream clinical and social implications of making this diagnosis in at-risk populations. Through these discussions, this session will provide the non-genomics expert touchstone concepts in the modern clinical genomic era of hematology.