Laboratory Stewardship for Clinical Genetic Testing
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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.
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.
KeywordsUtilization 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
- 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: https://doi.org/10.1038/s41436-018-0417-6.
- 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. https://doi.org/10.1002/ajmg.a.36453. A seminal article demonstrating value of genetic counselors in case review.CrossRefGoogle Scholar
- 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: https://doi.org/10.3390/jpm9010009.
- 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. https://doi.org/10.1007/s12687-017-0310-z.CrossRefPubMedGoogle Scholar
- 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. https://doi.org/10.1373/jalm.2017.023606.CrossRefGoogle Scholar
- 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. https://doi.org/10.1016/j.cca.2013.09.033. Genetic counselor skills are complementary and an asset to laboratory stewardship. CrossRefPubMedGoogle Scholar
- 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. https://doi.org/10.1016/j.jmoldx.2015.01.003. Demonstrates effective integration of multiple stewardship interventions to improve genetic test utilization. CrossRefPubMedPubMedCentralGoogle Scholar
- 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
- 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. https://doi.org/10.1007/s10897-018-0226-8.CrossRefPubMedGoogle Scholar
- 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
- 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
- 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. https://doi.org/10.1002/mgg3.410.CrossRefGoogle Scholar
- 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. https://doi.org/10.1186/s12911-015-0137-7.CrossRefPubMedPubMedCentralGoogle Scholar
- 39.Riley J, Stoll K. Blurred lines - comparing direct-to-consumer and clinical testing. Clinical Laboratory News. July 1, 2019. https://www.aacc.org/publications/cln/articles/2019/julyaug/blurred-lines