Utilization management of genetic testing

Utilization Management in the Clinical Laboratory and Other Ancillary Services

Volumn , Issue , 2017, Pages 219-233

  Dickerson, Jane A ^a   Conta, Jessie H ^a   Lockwood, Christina M ^b  

^a SEATTLE CHILDREN S HOSPITAL   (United States)

^b UNIVERSITY OF WASHINGTON   (United States)

Author keywords

Exome testing; Genetic testing; Inherited disorders; Intervention; Molecular testing; Newborn screening; Next generation sequencing; Privileging; Provider report cards; Utilization management

Indexed keywords

EID: 85018932297     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1007/978-3-319-34199-6_20     Document Type: Chapter

References (50)

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.
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.
3. Sluss PM. Reference laboratory utilization management. Clin Chim Acta. 2014; 427: 167-72.
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.
5. Beaudet AL. Which way for genetic-test regulation? Leave test interpretation to specialists. Nature. 2010; 466(7308): 816-7.
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.
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.
8. Sanger F, Nicklen S, Coulson AR. DNA sequencing with chainterminating inhibitors. Proc Natl Acad Sci U S A. 1977; 74(12): 5463-7.
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.
12. Baird G. The laboratory test utilization management toolbox. Biochem Med (Zagreb). 2014; 24(2): 223-34.
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.
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.
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.
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.
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.
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.
19. ACOG Committee on Genetics. ACOG Committee Opinion No. 432: spinal muscular atrophy. Obstet Gynecol. 2009; 113(5): 1194-6.
20. Prior TW, Professional Practice Guidelines Committee. Carrier screening for spinal muscular atrophy. Genet Med. 2008; 10(11): 840-2.
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.
22. Edwards JG, Feldman G, Goldberg J, Gregg AR, Norton ME, Rose NC, et al. Expanded carrier screening in reproductive medicinepoints 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.
23. Lindheim SR, Jaeger AS. Expanded preconception carrier screening in clinical practice: cutting the Gordian Knot. Fertil Steril. 2015; 104(2): 281-2.
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.
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.
26. Committee Opinion No. 640: cell-free DNA screening for fetal aneuploidy. Obstet Gynecol. 2015; 126: e31-7.
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.
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.
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.
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.
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.
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.
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.
36. Lindsay ME, Dietz HC. Lessons on the pathogenesis of aneurysm from heritable conditions. Nature. 2011; 473(7347): 308-16.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.