Helen Stevens Love
Tel: (250) 598-0312
Cell: (250) 818-0312
-----Original Message----From: Ullman-Cullere, Mollie [mailto:MULLMANCULLERE@PARTNERS.ORG]
Sent: March-25-10 6:46 AM
To: helen.stevens@shaw.ca
Cc: Hughes, Kevin S.,M.D.
Subject: references for national framework for Personalized Health Care
Initiative
Dear Helen,
Below are a list of references which provide background of the national
framework for Personalized Health Care (i.e. Personalize Medicine) and, to my
knowledge, is current to March 2010. Kevin please correct and extend as
warranted.
Best regards,
Mollie
In July 2007, the American Health Information Community (AHIC) Personalized
Health Care Workgroup submitted recommendations to the US Surgeon General
regarding genetics and family history. Included in these recommendations is the
needs to develop a Personalized Health Care Use Case. (available at:
http://healthit.hhs.gov/portal/server.pt/gateway/PTARGS_0_10731_848351_0_0_18/Re
commendations%20Presented%20at%20the%20July%202007%20AHIC%20Meeting%20%5bFamily%
20Health%20History%20and%20Genetic%20Tests%5d.pdf
<http://healthit.hhs.gov/portal/server.pt/gateway/PTARGS_0_10731_848351_0_0_18/R
ecommendations%20Presented%20at%20the%20July%202007%20AHIC%20Meeting%20%5bFamily
%20Health%20History%20and%20Genetic%20Tests%5d.pdf> )
In March 2008, the Personalized Healthcare Use Case was completed and approved.
It details EHR functionality necessary to support Genetic Medicine, covering
both genetics and family history. (available at:
http://healthit.hhs.gov/portal/server.pt?open=512&objID=1202&&PageID=15671&mode=
2&in_hi_userid=10732&cached=true).
In December 2008, Healthcare Information Technology Standards Panel (HITSP)
released the Personalized Healthcare Interoperability Specification
(http://wiki.hitsp.org/docs/IS08/IS08-1.html), which designates standards to be
used for implementation of functionality specified in the Personalized
Healthcare Use Case.
Inclusive in the HITSP Personalized Healthcare Interoperability Specification
are the following standards:
GENETICS
Purpose: Reporting clinical genetic test results from the lab into the EHR and
vocabulary for reporting between EHR-EHR and EHR-PHR (Personal Health Record)
HL7 Version 2 Implementation Guide: Clinical Genomics; Fully LOINC-Qualified
Genetic Variation Model, Release 1. Published by HL7 September 2009 (obtainable
from HL7).
vocabulary:
HITSP/C80 - Clinical Document and Message Terminology ( available at:
http://www.hitsp.org/ConstructSet_Details.aspx?&PrefixAlpha=4&PrefixNumeric=80)
and HITSP/IS08 - Personalized Healthcare Interoperability Specification
(available at: http://wiki.hitsp.org/docs/IS08/IS08-1.html)
LOINC terms used within the genetic result message can be found in the RELMA
tool with genetic codes (available for free download at: http://loinc.org
<http://loinc.org)/> )/
FAMILY HISTORY
AHIC Family Health History Multi-Stakeholder Workgroup Dataset Requirements
Summary
(available at:
http://healthit.hhs.gov/portal/server.pt/gateway/PTARGS_0_10731_848110_0_0_18/PH
C_FamilyHData.pdf)
<I think Kevin likely provided a list of Family History standards.>
Mollie Ullman-Cullere MS, MSE
Senior Information Architect/Project Manager
Partners HealthCare Center for Personalized Genetic Medicine
(Formerly: Harvard-Partners Center for Genetics and Genomics)
65 Landsdowne Street, Room 339
Cambridge, MA 02139
Office: 617-768-8328
Cell: 617-909-4309 (best)
Fax: 617-768-8510
Email: mullmancullere@partners.org
Website: http://pcpgm.partners.org <http://pcpgm.partners.org/>
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