Laboratory Stewardship for Clinical Genetic Testing

  • Jessie H. ContaEmail author
Counseling and Testing (C Reiser and C Walton, Section Editors)
Part of the following topical collections:
  1. Topical Collection on Counseling and Testing


Purpose of Review

Genetic test stewardship programs are increasingly common within hospital and reference laboratories, as are genetic test optimization efforts by individual practitioners. Genetic counselors play a critical role in guiding providers to medically appropriate genetic tests. This short review aims to summarize the impact of genetic counselors and targeted stewardship interventions that improve genetic test utilization.

Recent Findings

A variety of stewardship interventions exist that collectively help to eliminate unnecessary tests, support coordination of necessary tests, reduce order errors, and integrate processes that ensure results retrieval and accurate interpretation.


Ensuring appropriate utilization of genetic tests and reducing errors improves patient care, reduces costs, and lays an important foundation of trust between patients, providers, institutions, and insurers. Rapid evolution of assays, expansion of genetic tests into multiple medical specialties, direct consumer access, and focus on precision-medicine initiatives foretell a future where genetic test stewardship programs are essential to supporting quality patient care.


Utilization management Genetic test stewardship Laboratory test stewardship Genetic testing Genetic counselors 



The author would like to thank Sean Conta, Marcia Hastings, and Doug Hastings for their support, and acknowledge Michael Astion, Jane Dickerson, Monica Wellner, Darci Sternen, Shannon Stasi, and Sarah Clowes Candadai for their mentorship and support of genetic test stewardship.

Compliance with Ethical Standards

Conflict of Interest

Jessie H. Conta declares no conflict of interest.

Human and Animal Rights and Informed Consent

This article does not contain any studies with human or animal subjects performed by any of the authors.


Papers of particular interest, published recently, have been highlighted as: • Of importance

  1. 1.
    Phillips KA, Deverka PA, Hooker GW, Douglas MP. Genetic test availability and spending: where are we now? Where are we going? Health Aff. 2018;37(5):710–6. Scholar
  2. 2.
    Hauser D, Obeng AO, Fei K, Ramos MA, Horowitz CR. Views of primary care providers on testing patients for genetic risks for common chronic diseases. Health Aff. 2018;37(5):793–800. Scholar
  3. 3.
    Mikat-Stevens NA, Larson IA, Tarini BA. Primary-care providers’ perceived barriers to integration of genetics services: a systematic review of the literature. Genet Med. 2015;17(3):169–76. Scholar
  4. 4.
    Maiese D, Keehn A, Lyon M, Flannery D, Watson M; Working Groups of the National Coordinating Center for Seven Regional Genetics Service Collaboratives. Current conditions in medical genetics practice. Genet Med. 2019. doi:
  5. 5.
    Hoskovec JM, Bennett RL, Carey ME, DaVanzo JE, Dougherty M, Hahn SE, et al. Projecting the supply and demand for certified genetic counselors: a workforce study. J Genet Couns. 2018;27(1):16–20. Scholar
  6. 6.
    Phillips KA, Deverka PA, Trosman JR, Douglas MP, Chambers JD, Weldon CB, et al. Payer coverage policies for multigene tests. Nat Biotechnol. 2017;35(7):614–7. Scholar
  7. 7.
    Zhi M, Ding EL, Theisen-Toupal J, Whelan J, Arnaout R. The landscape of inappropriate laboratory testing: a 15-year meta-analysis. PLoS One. 2013;8(11):e78962. Scholar
  8. 8.
    Lynch JA, Berse B, Dotson WD, Khoury MJ, Coomer N, Kautter J. Utilization of genetic tests: analysis of gene-specific billing in Medicare claims data. Genet Med. 2017;19(8):890–9. Scholar
  9. 9.
    • Miller CE, Krautscheid P, Baldwin EE, Tvrdik T, Openshaw AS, Hart K, et al. Genetic counselor review of genetic test orders in a reference laboratory reduces unnecessary testing. Am J Genet Part A. 2014;164A(5):1094–101. A seminal article demonstrating value of genetic counselors in case review.CrossRefGoogle Scholar
  10. 10.
    Dickerson JA, Cole B, Conta J, Wellner M, Wallace SE, Jack R, et al. Improving the value of costly genetic reference laboratory testing with active utilization management. Arch Pathol Lab Med. 2014;138(1):110–3. Scholar
  11. 11.
    Kurian AW, Ward KC, Howlader N, Deapen D, Hamilton AS, Mariotto A, et al. Genetic testing and results in a population-based cohort of breast cancer patients and ovarian cancer patients. J Clin Oncol. 2019;37(15):1305–15. Scholar
  12. 12.
    Hendricks-Sturrup RM, Lu CY. Understanding implementation challenges to genetic testing for familial hypercholesterolemia in the United States. J Pers Med. 2019;9(1). pii: E9. doi:
  13. 13.
    Stewart KFJ, Wesselius A, Schreurs MAC, et al. Behavioural changes, sharing behaviour and psychological responses after receiving direct-to-consumer genetic test results: a systematic review and meta-analysis. J Community Genet. 2018;9:1. Scholar
  14. 14.
    ACMG Board of Directors. Clinical utility of genetic and genomic services: a position statement of the American College of Medical Genetics and Genomics. Genet Med. 2015;17(6):505–7. Scholar
  15. 15.
    Dickerson JA, Fletcher A, Procop G, Keren DF, Singh IR, Garcia JJ, et al. Transforming laboratory utilization review into laboratory stewardship: guidelines by the PLUGS National Committee for Laboratory Stewardship. JALM. 2017;2(2):259–68. Scholar
  16. 16.
    Jackson BR. Managing laboratory test use: principles and tools. Clin Lab Med 27. 2007;27(4):733–48. Scholar
  17. 17.
    Baird G. The laboratory test utilization management toolbox. Biochemia Medica. 2014;24(2):223–34. Scholar
  18. 18.
    Stoll K, Kubendran S, Cohen SA. The past, present and future of service delivery in genetic counseling: keeping up in the era of precision medicine. Am J Med Genet C: Semin Med Genet. 2018;178(1):24–37. Scholar
  19. 19.
    • Kotzer KE, Riley JD, Conta JH, Anderson CM, Schahl KA, Goodenberger ML. Genetic testing utilization and the role of the laboratory genetic counselor. Clin Chim Acta. 2014;427:193–5. Genetic counselor skills are complementary and an asset to laboratory stewardship. CrossRefPubMedGoogle Scholar
  20. 20.
    Korngiebel DM, Fullerton SM, Burke W. Patient safety in genomic medicine: an exploratory study. Genet Med. 2016;18(11):1136–42. Scholar
  21. 21.
    Bonadies DC, Brierley KL, Barnett RE, Baxter MD, Donenberg T, Ducaine WL, et al. Adverse events in cancer genetic testing: the third case series. Cancer J. 2014;20(4):246–53. Scholar
  22. 22.
    Arscott P, Caleshu C, Kotzer K, Kreykes S, Kruisselbrink T, Orland K, et al. A case for inclusion of genetic counselors in cardiac care. Cardiol Rev. 2016;24(2):49–55. Scholar
  23. 23.
    • Riley JD, Procop GW, Kottke-Marchant K, Wyllie R, Lacbawan FL. Improving molecular genetic test utilization through order restriction, test review, and guidance. J Mol Diagn. 2015;17(3):225–9. Demonstrates effective integration of multiple stewardship interventions to improve genetic test utilization. CrossRefPubMedPubMedCentralGoogle Scholar
  24. 24.
    Mathias PC, Conta JH, Konnick EQ, Sternen DL, Stasi SM, Cole BL, et al. Preventing genetic testing order errors with a laboratory utilization management program. Am J Clin Pathol. 2016;146(2):21–226. Scholar
  25. 25.
    Londre GK, Zaleski CA, Conta JH. Adding value to genetic testing through utilization management: commercial laboratory’s experience. American Journal of Genetic Part A. 2017;173A(5):1433–55. Scholar
  26. 26.
    Haidle JL, Sternen DL, Dickerson JA, Mroch A, Needham DF, Riordan CM, MC Kieke. Genetic counselors save costs across the genetic testing spectrum. Am J Manag Care 2017;23(10 Spec No.):SP428-SP430.Google Scholar
  27. 27.
    Smith S, Marino I, Schaller J, Arnell C, Moyes K, Manley S. Optimization of quality assurance to increase clinical utility and cost effectiveness of hereditary cancer testing. Perinat Med. 2017;14(3):213–20. Scholar
  28. 28.
    Wakefield E, Keller H, Mianzo H, Nagaraj CB, Tawde S, Ulm E. Reduction of health care costs and improved appropriateness of incoming test orders: the impact of genetic counselor review in an academic genetic testing laboratory. J Genet Couns. 2018;27(5):1067–73. Scholar
  29. 29.
    • Conta J, Hess C, Riley J. Genetic counselor role in hospital test utilization. In: Goodenberger ML, Thomas BC, Kruisselbrink T, editors. Practical genetic counseling for the laboratory. New York: Oxford University Press; 2017.p.239-263. Overview of lab stewardship principles, interventions, and role of genetic counselor. Google Scholar
  30. 30.
    Suarez CJ, Yu L, Downs N, Costa HA, Stevenson DA. Promoting appropriate genetic testing: the impact of a combined test review and consultative service. Genet Med. 2017;19(9):1049–54. Scholar
  31. 31.
    • Dickerson J, Conta J, Lockwood T Utilization Management of Genetic Testing. In: Lewandrowski K, Sluss PM, editors. Utilization management in the clinical laboratory and other ancillary services. Switzerland: Springer International Publishing; 2017.p.219-233. Review of variety of stewardship interventions, including merits and limitations. Google Scholar
  32. 32.
    Clowes Candadai SV, Sikes MC, Thies JM, Freed AS, Bennett JT. Rapid clinical exome sequencing in a pediatric ICU: Genetic counselor impacts and challenges. J Genet Couns. 2019;28(2):283–91. Scholar
  33. 33.
    Elliott AM, du Souich C, Adam S, Dragojlovic N, van Karnebeek C, Nelson TN, et al. The Genomic Consultation Service: a clinical service designed to improve patient selection for genome-wide sequencing in British Columbia. Mol Genet Genom Med. 2018;6:592–600. Scholar
  34. 34.
    Krasowski MD, Chudzik D, Dolezal A, Steussy B, Gailey MP, Koch B, et al. Promoting improved utilization of laboratory testing through changes in an electronic medical record: experience at an academic medical center. BMC Med Inform Decis Mak. 2015;15:11. Scholar
  35. 35.
    Zhou Y, Procop GW, Riley JD. A novel approach to improving utilization of laboratory testing. Arch Pathol Lab Med. 2018;142(2):243–7. Scholar
  36. 36.
    Smith TW, Pi D, Hudoba M, Lee AY. Reducing inpatient heritable thrombophilia testing using a clinical decision-making tool. J Clin Pathol. 2014;67(4):345–9. Scholar
  37. 37.
    Jackson BR. Laboratory formularies. Clin Chim Acta. 2014;427:151–3. Scholar
  38. 38.
    Rudolf J, Jackson BR, Wilson AR, Smock KJ, Schmidt RL. Organizational benchmarks for test utilization performance: an example based on positivity rates for genetic tests. Am J Clin Pathol. 2017;147(4):382–9. Scholar
  39. 39.
    Riley J, Stoll K. Blurred lines - comparing direct-to-consumer and clinical testing. Clinical Laboratory News. July 1, 2019.

Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Department of LaboratoriesSeattle Children’s Hospital & PLUGS® (Patient-centered Laboratory Utilization Guidance Services)SeattleUSA

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