title: Initial clinical validation of Health Heritage, a patient-facing tool for personal and family history collection and cancer risk assessment.
abstract: Personal and family health histories remain important independent risk factors for cancer; however they are currently not being well collected or used effectively. Health Heritage was designed to address this need. The purpose of this study was to validate the ability of Health Heritage to identify patients appropriate for further genetic evaluation and to accurately stratify cancer risk. A retrospective chart review was conducted on 100 random patients seen at an adult genetics clinic presenting with concern for an inherited predisposition to cancer. Relevant personal and family history obtained from the patients' medical records was entered into Health Heritage. Recommendations by Health Heritage were compared to national guidelines of eligibility for genetic evaluation. Agreement between Health Heritage referral for genetic evaluation and guideline eligibility for genetic evaluation was 97% (sensitivity 98% and specificity 88%). Risk stratification for cancer was also compared between Health Heritage and those documented by a geneticist. For patients at increased risk for breast, ovarian, or colorectal cancer as determined by the geneticist, risk stratification by Health Heritage agreed 90, 93, and 75%, respectively. Discordances in risk stratification were attributed to both complex situations better handled by the geneticist and Health Heritage's adherence to incorporating all information into its algorithms. Health Heritage is a clinically valid tool to identify patients appropriate for further genetic evaluation and to encourage them to confirm the assessment and management recommendations with cancer genetic experts. Health Heritage also provides an estimate of cancer risk that is complementary to a genetics team.
authors.affiliation: Center for Biomedical Research Informatics (CBRI), NorthShore University HealthSystem, NorthShore University HealthSystem Research Institute, 1001 University Place, Evanston, IL, 60201, USA. leigh.baumgart@gmail.com.
authors.forename: Leigh A
authors.initials: LA
authors.lastname: Baumgart
authors.affiliation: Center for Biomedical Research Informatics (CBRI), NorthShore University HealthSystem, NorthShore University HealthSystem Research Institute, 1001 University Place, Evanston, IL, 60201, USA.
authors.forename: Kristen J Vogel
authors.initials: KJ
authors.lastname: Postula
authors.affiliation: Center for Biomedical Research Informatics (CBRI), NorthShore University HealthSystem, NorthShore University HealthSystem Research Institute, 1001 University Place, Evanston, IL, 60201, USA.
authors.forename: William A
authors.initials: WA
authors.lastname: Knaus
mesh_terms: D005192:Family Health; D005260:Female; D005817:Genetic Counseling; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D020407:Internet; D008297:Male; D008487:Medical History Taking / Q000379:methods*; D008875:Middle Aged; D009369:Neoplasms / Q000235:genetics*; D012017:Referral and Consultation; D018570:Risk Assessment / Q000379:methods; D012984:Software
keywords: Cancer genetics; Clinical decision support; Familial cancer; Family history; Prevention; Risk assessment