Journal of Community Genetics

, Volume 4, Issue 2, pp 285–288

Anticipating the arrival of low-penetrance genetic testing to primary care medicine

  • Beth A. Tarini
  • Nicole Exe
  • Brian J. Zikmund-Fisher


Primary prevention is a pillar of primary care medicine. Furthermore, the identification of commonly occurring genetic mutations that confer only modest increases in disease risk (i.e., low-penetrance mutations or LPMs) is expanding our conception of how genetic testing supports prevention goals. To date, most predictive genetic testing has focused on identifying the minority of patients who carry mutations that significantly increase their risk for developing future disease (i.e., high-penetrance mutations or HPMs). Genetic tests for LPMs are more similar in structure and purpose to commonly used biomarker tests like lipid testing than to HPM testing. In the primary care setting, LPM testing will likely be presented to patients as one part of a multifactorial risk assessment that contains only a small amount of genetics-specific information. Consequently, preparing primary care clinicians for the anticipated use of LPM genetic tests will not require development of a completely new skill set but rather a re-conceptualization of both genetic testing and biomarker evaluation for primary prevention.



High-penetrance mutations


Low-penetrance mutations


Relative risk


Absolute risk

Copyright information

© Springer-Verlag Berlin Heidelberg 2013

Authors and Affiliations

  • Beth A. Tarini
    • 1
  • Nicole Exe
    • 2
  • Brian J. Zikmund-Fisher
    • 2
    • 3
    • 4
  1. 1.Child Health Evaluation and Research (CHEAR) Unit, Division of General PediatricsUniversity of MichiganAnn ArborUSA
  2. 2.Center for Bioethics and Social Sciences in MedicineUniversity of MichiganAnn ArborUSA
  3. 3.Department of Health Behavior and Health EducationUniversity of MichiganAnn ArborUSA
  4. 4.Division of General Medicine, Department of Internal MedicineUniversity of MichiganAnn ArborUSA

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