Skip to main content
SpringerLink
Log in

Utilization Management of Genetic Testing

  • Chapter
  • First Online:
Utilization Management in the Clinical Laboratory and Other Ancillary Services

Abstract

Utilization management of genetic testing requires a combination of gentle, medium, and strong interventions, each of which can be customized to best fit an institution. Analogous to other fields in the laboratory, the motivation for monitoring and improving utilization of genetic tests is maximizing the value for the patient by emphasizing the quality and clinical utility of the test and minimizing cost to the patient and health system. However, it is important to recognize that genetic test utilization management requires a nuanced approach because of its rate of rapid growth, complex and constantly changing methodologies, and disproportionate expense relative to test volumes. Many times, algorithms and rules either do not exist or are difficult to implement, necessitating a case-by-case approach. In addition, when there is sufficient data to institute algorithmic strategies, the constant evolution of testing methodologies and gene discoveries compels the laboratorian to periodically review the interventions for accuracy and effectiveness. This chapter aims to describe the challenges as well as the opportunities for designing a thoughtful genetic test utilization management process.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 69.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 99.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 119.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Similar content being viewed by others

References

  1. Gomah ME, Turley JP, Lu H, Jones D. Modeling complex workflow in molecular diagnostics: design specifications of laboratory software for support of personalized medicine. J Mol Diagn. 2010;12(1):51–7.

    Article  PubMed  PubMed Central  Google Scholar 

  2. United Health, Center for Health Reform and Modernization. Personalized medicine: trends and prospects for the new science of genetic testing and molecular diagnostics. Working Paper 7. 2012.

    Google Scholar 

  3. Sluss PM. Reference laboratory utilization management. Clin Chim Acta. 2014;427:167–72.

    Article  CAS  PubMed  Google Scholar 

  4. Greenblatt MB, Nowak JA, Quade CC, Tanasijevic M, Lindeman N, Jarolim P. Impact of a prospective review program for reference laboratory testing requests. Am J Clin Pathol. 2015;143(5):627–34.

    Article  PubMed  Google Scholar 

  5. Beaudet AL. Which way for genetic-test regulation? Leave test interpretation to specialists. Nature. 2010;466(7308):816–7.

    Article  CAS  PubMed  Google Scholar 

  6. Mainous 3rd AG, Johnson SP, Chirina S, Baker R. Academic family physicians’ perception of genetic testing and integration into practice: a CERA study. Fam Med. 2013;45(4):257–62.

    PubMed  Google Scholar 

  7. Shields AE, Burke W, Levy DE. Differential use of available genetic tests among primary care physicians in the United States: results of a national survey. Genet Med. 2008;10(6):404–14.

    Article  PubMed  PubMed Central  Google Scholar 

  8. Sanger F, Nicklen S, Coulson AR. DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci U S A. 1977;74(12):5463–7.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  9. Wetterstrand K. DNA sequencing costs: data from the NHGRI Genome Sequencing Program (GSP). 2015. http://www.genome.gov/sequencingcosts/. Accessed 5 Sept 2015.

  10. Surveillance, Epidemiology, and End Results Program. 2015. http://seer.cancer.gov/statfacts/html/amyl.html.

  11. Huck A, Lewandrowski K. Utilization management in the clinical laboratory: an introduction and overview of the literature. Clin Chim Acta. 2014;427:111–7.

    Article  CAS  PubMed  Google Scholar 

  12. Baird G. The laboratory test utilization management toolbox. Biochem Med (Zagreb). 2014;24(2):223–34.

    Article  Google Scholar 

  13. Solomon DH, Hashimoto H, Daltroy L, Liang MH. Techniques to improve physicians’ use of diagnostic tests: a new conceptual framework. JAMA. 1998;280(23):2020–7.

    Article  CAS  PubMed  Google Scholar 

  14. Watson MS, Cutting GR, Desnick RJ, Driscoll DA, Klinger K, Mennuti M, et al. Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel. Genet Med. 2004;6(5):387–91.

    Article  PubMed  PubMed Central  Google Scholar 

  15. American College of Obstetricians and Gynecologists Committee on Genetics. ACOG Committee Opinion No. 486: update on carrier screening for cystic fibrosis. Obstet Gynecol. 2011;117(4):1028–31.

    Article  Google Scholar 

  16. Langfelder-Schwind E, Karczeski B, Strecker MN, Redman J, Sugarman EA, Zaleski C, et al. Molecular testing for cystic fibrosis carrier status practice guidelines: recommendations of the National Society of Genetic Counselors. J Genet Couns. 2014;23(1):5–15.

    Article  PubMed  Google Scholar 

  17. Gross SJ, Pletcher BA, Monaghan KG, Professional Practice Guidelines Committee. Carrier screening in individuals of Ashkenazi Jewish descent. Genet Med. 2008;10(1):54–6.

    Article  PubMed  PubMed Central  Google Scholar 

  18. ACOG Committee on Genetics. ACOG Committee Opinion No. 442: preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent. Obstet Gynecol. 2009;114(4):950–3.

    Article  Google Scholar 

  19. ACOG Committee on Genetics. ACOG Committee Opinion No. 432: spinal muscular atrophy. Obstet Gynecol. 2009;113(5):1194–6.

    Article  Google Scholar 

  20. Prior TW, Professional Practice Guidelines Committee. Carrier screening for spinal muscular atrophy. Genet Med. 2008;10(11):840–2.

    Article  PubMed  PubMed Central  Google Scholar 

  21. Nazareth SB, Lazarin GA, Goldberg JD. Changing trends in carrier screening for genetic disease in the United States. Prenat Diagn. 2015;35:931–5.

    Article  PubMed  PubMed Central  Google Scholar 

  22. Edwards JG, Feldman G, Goldberg J, Gregg AR, Norton ME, Rose NC, et al. Expanded carrier screening in reproductive medicine-points to consider: a joint statement of the American College of Medical Genetics and Genomics, American College of Obstetricians and Gynecologists, National Society of Genetic Counselors, Perinatal Quality Foundation, and Society for Maternal-Fetal Medicine. Obstet Gynecol. 2015;125(3):653–62.

    Article  PubMed  Google Scholar 

  23. Lindheim SR, Jaeger AS. Expanded preconception carrier screening in clinical practice: cutting the Gordian Knot. Fertil Steril. 2015;104(2):281–2.

    Article  PubMed  Google Scholar 

  24. McCullough RM, Almasri EA, Guan X, Geis JA, Hicks SC, Mazloom AR, et al. Non-invasive prenatal chromosomal aneuploidy testing—clinical experience: 100,000 clinical samples. PLoS One. 2014;9(10), e109173.

    Article  PubMed  PubMed Central  Google Scholar 

  25. Haymon L, Simi E, Moyer K, Aufox S, Ouyang DW. Clinical implementation of noninvasive prenatal testing among maternal fetal medicine specialists. Prenat Diagn. 2014;34(5):416–23.

    Article  PubMed  Google Scholar 

  26. Committee Opinion No. 640: cell-free DNA screening for fetal aneuploidy. Obstet Gynecol. 2015;126:e31–7.

    Google Scholar 

  27. Wang Y, Chen Y, Tian F, Zhang J, Song Z, Wu Y, et al. Maternal mosaicism is a significant contributor to discordant sex chromosomal aneuploidies associated with noninvasive prenatal testing. Clin Chem. 2014;60(1):251–9.

    Article  PubMed  Google Scholar 

  28. Lebo RV, Novak RW, Wolfe K, Michelson M, Robinson H, Mancuso MS. Discordant circulating fetal DNA and subsequent cytogenetics reveal false negative, placental mosaic, and fetal mosaic cfDNA genotypes. J Transl Med. 2015;13:260-015-0569-y.

    Google Scholar 

  29. Bianchi DW, Chudova D, Sehnert AJ, Bhatt S, Murray K, Prosen TL, et al. Noninvasive prenatal testing and incidental detection of occult maternal malignancies. JAMA. 2015;314(2):162–9.

    Article  CAS  PubMed  Google Scholar 

  30. Newborn Screening, Genetics Home Reference. 2015. http://ghr.nlm.nih.gov/nbs. Accessed 6 Aug 2015.

  31. Wagener JS, Zemanick ET, Sontag MK. Newborn screening for cystic fibrosis. Curr Opin Pediatr. 2012;24(3):329–35.

    Article  PubMed  Google Scholar 

  32. OMIM Entry Statistics. 2015. http://www.omim.org/statistics/entry. Accessed 5 Sept 2015.

  33. Miyakis S, Karamanof G, Liontos M, Mountokalakis TD. Factors contributing to inappropriate ordering of tests in an academic medical department and the effect of an educational feedback strategy. Postgrad Med J. 2006;82(974):823–9.

    Article  PubMed  PubMed Central  Google Scholar 

  34. Xue Y, Ankala A, Wilcox WR, Hegde MR. Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing. Genet Med. 2015;17(6):444–51.

    Article  CAS  PubMed  Google Scholar 

  35. Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, et al. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med. 2013;15(7):565–74.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  36. Lindsay ME, Dietz HC. Lessons on the pathogenesis of aneurysm from heritable conditions. Nature. 2011;473(7347):308–16.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  37. Gillis E, Van Laer L, Loeys BL. Genetics of thoracic aortic aneurysm: at the crossroad of transforming growth factor-beta signaling and vascular smooth muscle cell contractility. Circ Res. 2013;113(3):327–40.

    Article  CAS  PubMed  Google Scholar 

  38. Hiratzka LF, Bakris GL, Beckman JA, Bersin RM, Carr VF, Casey Jr DE, et al. 2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM guidelines for the diagnosis and management of patients with thoracic aortic disease: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines, American Association for Thoracic Surgery, American College of Radiology, American Stroke Association, Society of Cardiovascular Anesthesiologists, Society for Cardiovascular Angiography and Interventions, Society of Interventional Radiology, Society of Thoracic Surgeons, and Society for Vascular Medicine. Circulation. 2010;121(13):e266–369.

    Google Scholar 

  39. 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;15:11-015-0137-7.

    Google Scholar 

  40. Dickerson JA, Jack RM, Astion ML, Cole B. Another laboratory test utilization program: our approach to reducing unnecessary 1,25-dihydroxyvitamin D orders with a simple intervention. Am J Clin Pathol. 2013;140(3):446–7.

    Article  PubMed  Google Scholar 

  41. Staff L. Improving laboratory test utilization through physician report cards: an interview with Dr. Kim Riddell. Lab Errors Patient Safety. 2005;2:2–4.

    Google Scholar 

  42. Farrell PM, Rosenstein BJ, White TB, Accurso FJ, Castellani C, Cutting GR, et al. Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report. J Pediatr. 2008;153(2):S4–14.

    Article  PubMed  PubMed Central  Google Scholar 

  43. 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.

    Article  CAS  PubMed  Google Scholar 

  44. 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 Med Genet A. 2014;164A(5):1094–101.

    Article  PubMed  Google Scholar 

  45. Dickerson JA, Cole B, Conta JH, Wellner M, Wallace SE, Jack RM, et al. Improving the value of costly genetic reference laboratory testing with active utilization management. Arch Pathol Lab Med. 2014;138(1):110–3.

    Article  PubMed  Google Scholar 

  46. 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.

    Article  PubMed  Google Scholar 

  47. Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet. 2010;86(5):749–64.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  48. Dohner H, Estey EH, Amadori S, Appelbaum FR, Buchner T, Burnett AK, et al. Diagnosis and management of acute myeloid leukemia in adults: recommendations from an international expert panel, on behalf of the European LeukemiaNet. Blood. 2010;115(3):453–74.

    Article  PubMed  Google Scholar 

  49. O’Donnell MR. Risk stratification and emerging treatment strategies in acute myeloid leukemia. J Natl Compr Canc Netw. 2013;11 Suppl 5:667–9.

    PubMed  Google Scholar 

  50. Gandhi TK, Kachalia A, Thomas EJ, Puopolo AL, Yoon C, Brennan TA, et al. Missed and delayed diagnoses in the ambulatory setting: a study of closed malpractice claims. Ann Intern Med. 2006;145(7):488–96.

    Article  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Laboratories, Seattle Children’s Hospital, 4800 Sand Point Way NE, OC.8.720, Seattle, WA, 98105, USA

    Jane A. Dickerson & Jessie H. Conta

  2. Laboratory Medicine, University of Washington, 1959 NE Pacific St, NW120, Box 357110, Seattle, WA, 98195, USA

    Christina M. Lockwood

Authors
  1. Jane A. Dickerson
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Jessie H. Conta
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Christina M. Lockwood
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Jane A. Dickerson .

Editor information

Editors and Affiliations

  1. Division of Laboratory Medicine Department of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA

    Kent Lewandrowski

  2. Pathology Service Core Laboratories, Massachusetts General Hospital, Boston, Massachusetts, USA

    Patrick M. Sluss

Rights and permissions

Reprints and permissions

Copyright information

© 2017 Springer International Publishing Switzerland

About this chapter

Cite this chapter

Dickerson, J.A., Conta, J.H., Lockwood, C.M. (2017). Utilization Management of Genetic Testing. In: Lewandrowski, K., Sluss, P. (eds) Utilization Management in the Clinical Laboratory and Other Ancillary Services. Springer, Cham. https://doi.org/10.1007/978-3-319-34199-6_20

Download citation

  • DOI: https://doi.org/10.1007/978-3-319-34199-6_20

  • Published:

  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-34197-2

  • Online ISBN: 978-3-319-34199-6

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics

Search

Navigation