Preliminary validation of a consumer-oriented colorectal cancer risk assessment tool compatible with the US Surgeon General’s My Family Health Portrait

Abstract

PurposeThis study examines the analytic validity of a software tool designed to provide individuals with risk assessments for colorectal cancer (CRC) based on personal health and family history information. The software is compatible with the U.S. Surgeon General’s My Family Health Portrait.MethodsAn algorithm for risk assessment was created using accepted colorectal risk assessment guidelines, and programmed into a software tool (MFHP). Risk assessments derived from 150 pedigrees using the MFHP tool were compared to “gold standard” risk assessments developed by three expert cancer genetic counselors (GCs).ResultsGenetic counselor risk assessments showed substantial, but not perfect, agreement. MFHP risk assessments for CRC cancer yielded a sensitivity for CRC risk of 81% (95% CI 54–96%) and specificity of 90% (95% CI 83–94%), respectively, when compared to GC pedigree review. The positive predictive values for risk for MFHP was 48% (95% CI 29–68%), while the negative predictive values was 98% (95% CI 93–99%). Agreement between MFHP and GC pedigree review was moderate (Kappa = 0.54)ConclusionsThe analytic validity of the MFHP CRC risk assessment software is similar to other types of screening tools used in primary care. Future investigations should explore the clinical validity and utility of the software in diverse population groups.

Impact of family history assessment on communication with family members and health care providers: A report from the Family Healthware™ Impact Trial (FHITr)

“…Currently, there are no plans to update Family Healthware ™ for release to the general public (Muin Khoury, personal communication). Rather, other publically available tools such as the US Surgeon General's My Family Health Portrait (https://familyhistory.hhs.gov/) have undergone recent updates to include risk algorithms for some conditions including colorectal cancer [36] and type 2 diabetes and may be used to facilitate the collection and sharing of family health history.…”

Securing and Documenting Cancer Family History in the Age of the Electronic Medical Record

“…Several resources, such as the Surgeon General's Family History tool (familyhistory.hhs.gov), are patient friendly and can allow the information to be captured before a clinic visit. [33][34][35] Box 1 lists several tools that have been developed to capture information in an electronic manner; some have associated decision support guidance. Most tools are still being evaluated and are proprietary or specific to the organization that developed it.…”

Parental DNA sequence is critical family history in clinical genomics

“…When Guttmacher, Collins, and Carmona 8 announced in 2004 the creation of the Surgeon General's Family Health Portrait as an electronic family history tool for collecting and storing family health history information, it helped to set off a wave of interest around the infrastructure needs related to the acquisition and storage of a standard three-generation pedigree and associated health information. 9 The infrastructure needs around collecting and storing parental DNA are different but solvable. The combined efforts of the genomics community, the government, the payer community, and private industry could create a robust system for collecting and storing DNA that could then be sequenced later when the need arises.…”