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Initial clinical validation of Health Heritage, a patient-facing tool for personal and family history collection and cancer risk assessment

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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.

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Acknowledgments

The authors thank Peter J. Hulick, MD, MMSc for his support and the use of his patient population to allow for the validation of Health Heritage.

Sources of support

The development and validation of Health Heritage was supported by The Robert Wood Johnson Foundation, The National Cancer Institute (Contract No. 5RC2CA150911-02), The University of Virginia, and by NorthShore University HealthSystem.

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Authors and Affiliations

  1. Center for Biomedical Research Informatics (CBRI), NorthShore University HealthSystem, NorthShore University HealthSystem Research Institute, 1001 University Place, Evanston, IL, 60201, USA

    Leigh A. Baumgart, Kristen J. Vogel Postula & William A. Knaus

Authors
  1. Leigh A. Baumgart
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  2. Kristen J. Vogel Postula
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  3. William A. Knaus
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Correspondence to Leigh A. Baumgart.

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Conflict of interest

Health Heritage is currently being marketed and sold by NantHealth, LLC.

Ethical approval

All procedures performed in this study involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards. For this type of study formal consent is not required.

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Baumgart, L.A., Postula, K.J.V. & Knaus, W.A. Initial clinical validation of Health Heritage, a patient-facing tool for personal and family history collection and cancer risk assessment. Familial Cancer 15, 331–339 (2016). https://doi.org/10.1007/s10689-015-9863-3

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  • DOI: https://doi.org/10.1007/s10689-015-9863-3

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