Harmonized Standards for the Genome and Family History
Posted Nov 19 2008 7:13am
As one of the first humans to have my genome sequenced, I'm passionate about the standards used to record genomic and family history data. The initial national effort just completed the public comment phase and is not yet approved by the HITSP panel, but we hope to gain panel approval in December and present this work to the AHIC Successor on January 8, 2009 for acceptance by Secretary Leavitt before he leaves office. Here's a summary of the work thus far
IS08 Personalized Healthcare is the overall interoperability specification for exchanging genomic information and family history. It references several other HITSP components:
During our discussion of genomic and family history data, we focused on privacy, since keeping this information confidential per the wishes of the patient is paramount.
Concerns we discussed include:
a) Based on Provider’s different needs, would there have to be an “all or nothing” option for the family member’s access authorization? b) Who makes the decision about which information is relevant? c) If the family member is not capable of authorization or has passed away, is legal representation required? d) What guidance does a Provider use to evaluate the access authorization?
I look forward to engaging my own family in the use of these standards. My parents have agreed to share our histories and genomes as an example to accelerate adoption of these standards. More to come soon!