Abstract
BackgroundThe CDC's Family History Public Health Initiative encourages adoption and increase awareness of family health history. To meet these goals and develop a personalized medicine implementation science research agenda, the Genomedical Connection is using an implementation research (T3 research) framework to develop and integrate a self-administered computerized family history system with built-in decision support into 2 primary care clinics in North Carolina.Methods/DesignThe family health history system collects a three generation family history on 48 conditions and provides decision support (pedigree and tabular family history, provider recommendation report and patient summary report) for 4 pilot conditions: breast cancer, ovarian cancer, colon cancer, and thrombosis. All adult English-speaking, non-adopted, patients scheduled for well-visits are invited to complete the family health system prior to their appointment. Decision support documents are entered into the medical record and available to provider's prior to the appointment. In order to optimize integration, components were piloted by stakeholders prior to and during implementation. Primary outcomes are change in appropriate testing for hereditary thrombophilia and screening for breast cancer, colon cancer, and ovarian cancer one year after study enrollment. Secondary outcomes include implementation measures related to the benefits and burdens of the family health system and its impact on clinic workflow, patients' risk perception, and intention to change health related behaviors. Outcomes are assessed through chart review, patient surveys at baseline and follow-up, and provider surveys. Clinical validity of the decision support is calculated by comparing its recommendations to those made by a genetic counselor reviewing the same pedigree; and clinical utility is demonstrated through reclassification rates and changes in appropriate screening (the primary outcome).DiscussionThis study integrates a computerized family health history system within the context of a routine well-visit appointment to overcome many of the existing barriers to collection and use of family history information by primary care providers. Results of the implementation process, its acceptability to patients and providers, modifications necessary to optimize the system, and impact on clinical care can serve to guide future implementation projects for both family history and other tools of personalized medicine, such as health risk assessments.
Highlights
The CDC’s Family History Public Health Initiative encourages adoption and increase awareness of family health history
This study integrates a computerized family health history system within the context of a routine wellvisit appointment to overcome many of the existing barriers to collection and use of family history information by primary care providers
family health history (FHH) is considered a standard component of the medical interview and several guidelines tie screening strategies to risk based upon family history, substantial barriers exist to widespread adoption in clinical practice
Summary
The simplest and least expensive form of genetic assessment, family history, is widely overlooked in medical practice. Continued use may permit providers to establish and hone their skills in a way that they can start to apply them to other risk-based fields, it may serve as an educational stepping stone to newer and more complicated areas of genetics and genomics Despite these benefits of family history taking little is known about its clinical validity or utility [12]. The one year follow up will not permit the use of hard outcomes such as the incidence of breast, colon, or ovarian cancer, screening is indicated by the United States Preventive Task Force and the American Cancer Society because of evidence that screening reduces morbidity and mortality; but is considerably underutilized [13,14] With this in mind screening patterns may be used as an acceptable intermediate endpoint. Shows the type of information a patient report contains and its layout
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
