To support the development of a use case for PHC, a core minimum set of data and common data definitions for the collection of family health history information must be developed. Recognizing the critical importance of this data set, on July 31, 2007, AHIC adopted the following recommendations from the PHC Workgroup pertaining to the priority area of family health history:
- • Form a multi-stakeholder workgroup to develop a family health history core minimum data set for primary care providers.
- • Conduct studies to determine an evidence-base, the validity and utility of family health history risk assessment and management tools, and clinical decision support tools, and to inform medical decisions.
- • Sponsor pilot programs to evaluate the core minimum data set and evidence-base and examine the feasibility of consumer-clinician exchange between PHR and EHR systems. The pilot programs should test and implement the standards and architecture identified in the HITSP-developed use case.
This manuscript details efforts to date to fulfill these recommendations.
The Family Health History Multi-Stakeholder Workgroup, comprised of more than 40 members who represent approximately 18 organizations, was convened in August 2007 (for membership, see Appendix 1: “Family Health History Multi-Stakeholder Workgroup,” available as an online data supplement at www.jamia.org
). This group includes members from the private sector and federal agencies who have been active in the PHC Workgroup or subgroups, as well as individuals with knowledge and expertise in the areas of family health history, health information technology, and health care delivery. In particular, an effort was made to include representatives from private-sector organizations that would be affected by the inclusion of a family health history core data set in the EHR. In October 2007, the Multi-Stakeholder Workgroup presented a report to the PHC Workgroup that defined the minimum family health history core data set. 12
In December 2007, the Workgroup prepared a Data Requirements Summary for the family health history core data set, which was released for public comment on January 15, 2008. 13
This data set was created through an iterative, consensus-building process based initially on information contained in a draft of proposed standards for family health history information developed by a small group of experts on family history and primary care. A prototype of the AHIC PHC use case 14
was also used as a reference for this process. The detailed personalized healthcare use case 15
describes a “Clinical Assessment” scenario that includes both family history and genetic testing information and takes into account perspectives of the consumer, clinician, testing laboratory, and information exchange. This scenario is used to outline the information flow and actions for the following five steps:
- 1 The consumer provides available family medical history information to the clinician.
- 2 Validated consumer and family health history information, available genetic/genomic testing information, and additional information about health status are accessed and gathered electronically via health information exchange.
- 3 The patient, authorized family members, and/or other providers receive newly constructed pedigree and family health history.
- 4 Information retrieved from genetic/genomic knowledge repositories and consultation with genetic specialists supports the selection of genetic tests.
- 5 The clinician communicates orders for genetic/genomic tests for the patient to the laboratory.
From these documents, a straw-man document was crafted and circulated among group members. When discussing and revising the straw man document the workgroup focused on what the stakeholders felt to be the core set of family health history information in the primary care health delivery environment. Stakeholders were then asked to supply comments on the straw-man document and to provide relevant materials used internally by their respective organizations to define the core data set for family health history. For this reason it was impossible to use a Delphi approach, as anonymity of the contributors could not be maintained. Comments and supporting documents supplied by the stakeholders were then used to assemble a draft document that defined the core variables and functionalities related to the representation of family health history information in the EHR/PHR. The group that was convened to create the core minimum data set purposefully included not only genetics experts but practicing primary care expertise—the core data set reflects data relevant to “validated” clinical prediction rules and incorporates elements of family history used in routine clinical practice—much of which will never be formally “validated” but is critical to ongoing health care.
While core functional requirements, such as the ability for the patient to indicate information as “sensitive” or to indicate degrees of uncertainty about the accuracy of the information, were outlined in the data set requirements, the governance structure and implementation methods were not described. Therefore, many issues concerning the confidentiality, privacy, and security of family history information were not addressed in this exercise. The PHC workgroup has previously discussed points to consider when including genetic test information in the EHR/PHR, 16
and many of these broad principles could also be applied to family health history information. These issues will be addressed most appropriately on an individual level, as organizations and institutions implement the standardized collections of family health history.
Core elements and functionalities related to family health history were categorized either as required or optional in the EHR/PHR environment. When making this designation, Workgroup members considered use of family health history information in the EHR/PHR from the perspectives of primary care providers and patients. In addition, the group discussed the concepts or functions that the EHR/PHR should capture or perform, with the understanding that the health care provider (or patient in the case of a PHR) may not use all of these concepts or functions in any given encounter. Finally, the group agreed that the listing should include concepts and functions that will be relevant to contemporary EHR/PHR users and to those 5–10 years into the future. Stakeholder responses were reviewed by the task force chairs, summarized, and used as a basis for three facilitated discussions among the stakeholders to achieve consensus on the family health history concepts/functionalities that should be part of every EHR/PHR. Additionally, the core dataset was posted electronically for further public comment in January of 2008 as an accompanying document to the PHC use case and modified accordingly based on the comments received.