Payer decision making for next-generation sequencing-based genetic tests: Insights from cell-free DNA prenatal screening

Genetics in Medicine

Volumn 19, Issue 5, 2017, Pages 559-567

  Dervan, Andrew P ^a   Deverka, Patricia A ^b,c   Trosman, Julia R ^d,e,f   Weldon, Christine B ^d,e,f   Douglas, Michael P ^d   Phillips, Kathryn A ^d,g  

^a UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^b AMERICAN INSTITUTES FOR RESEARCH   (United States)

^c University of North Carolina   (United States)

^d UNIVERSITY OF CALIFORNIA   (United States)

^e Center for Business Models in Healthcare   (United States)

^f NORTHWESTERN UNIVERSITY   (United States)

^g UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

cell free DNA; clinical utility; insurance coverage; next generation sequencing; noninvasive prenatal testing

Indexed keywords

CELL FREE DNA; DNA; UNCLASSIFIED DRUG; CELL FREE NUCLEIC ACID;

ARTICLE; CLINICAL ARTICLE; DECISION MAKING; FEMALE; GENETIC COUNSELING; GENETIC SCREENING; HEALTH CARE POLICY; HIGH RISK PREGNANCY; HUMAN; NEXT GENERATION SEQUENCING; PRACTICE GUIDELINE; PRENATAL SCREENING; PRIVATE HEALTH INSURANCE; TRISOMY 13; TRISOMY 18; TRISOMY 21; VALIDITY; CLINICAL DECISION MAKING; DNA SEQUENCE; DOWN SYNDROME; EDWARDS SYNDROME; GENETICS; HIGH THROUGHPUT SEQUENCING; INSURANCE; PREGNANCY; PRENATAL DIAGNOSIS; PROCEDURES; REGISTER; TRISOMY;

CELL-FREE NUCLEIC ACIDS; CLINICAL DECISION-MAKING; DECISION MAKING; DOWN SYNDROME; FEMALE; GENETIC TESTING; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INSURANCE COVERAGE; PREGNANCY; PRENATAL DIAGNOSIS; REGISTRIES; SEQUENCE ANALYSIS, DNA; TRISOMY; TRISOMY 13 SYNDROME; TRISOMY 18 SYNDROME;

EID: 85021775316     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2016.145     Document Type: Article

References (40)

1. ACOG Practice Bulletin no. 77: screening for fetal chromosomal abnormalities. Obstet Gynecol 2007;109:217-227.
2. Russo ML, Blakemore KJ. A historical and practical review of first trimester aneuploidy screening. Semin Fetal Neonatal Med 2014;19: 183-187.
3. Gregg AR, Van den Veyver IB, Gross SJ, Madankumar R, Rink BD, Norton ME. Noninvasive prenatal screening by next-generation sequencing. Annu Rev Genomics Hum Genet 2014;15:327-347.
4. Allyse M, Minear MA, Berson E, et al. Non-invasive prenatal testing: a review of international implementation and challenges. Int J Womens Health 2015;7:113-126.
5. Haymon L, Simi E, Moyer K, Aufox S, Ouyang DW. Clinical implementation of noninvasive prenatal testing among maternal fetal medicine specialists. Prenat Diagn 2014;34:416-423.
6. Graf MD, Needham DF, Teed N, Brown T. Genetic testing insurance coverage trends: a review of publicly available policies from the largest US payers. Per Med 2013;10:235-243.
7. Hresko A, Haga SB. Insurance coverage policies for personalized medicine. J Pers Med 2012;2:201-216.
8. Deverka PA. Pharmacogenomics, evidence, and the role of payers. Public Health Genomics 2009;12:149-157.
9. Deverka PA, Dreyfus JC. Clinical integration of next generation sequencing: coverage and reimbursement challenges. J Law Med Ethics 2014;42(suppl 1):22-41.
10. Norton ME, Rose NC, Benn P. Noninvasive prenatal testing for fetal aneuploidy: clinical assessment and a plea for restraint. Obstet Gynecol 2013;121:847-850.
11. AISHealth.Top 25 U.S. Health Plans, Ranked by Total Medical Enrollment. http://aishealth.com/health-plan-business/data/enrollment #1. Accessed 29 February 2016.
12. Garfield SS, Armstrong SO. Clinical and cost consequences of incorporating a novel non-invasive prenatal test into the diagnostic pathway for fetal trisomies. J Manag Care Med 2012;15:34-41.
13. Palomaki GE, Deciu C, Kloza EM, et al. DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study. Genet Med 2012;14:296-305.
14. Ohno M, Caughey A. The role of noninvasive prenatal testing as a diagnostic versus a screening tool-A cost-effectiveness analysis. Prenat Diagn 2013;33:630-635.
15. Committee opinion no. 640: cell-free DNA screening for fetal aneuploidy. Obstet Gynecol 2015;126:e31-e37.
16. Gregg AR, Gross SJ, Best RG, et al. ACMG statement on noninvasive prenatal screening for fetal aneuploidy. Genet Med 2013;15:395-398.
17. Benn P, Borrell A, Chiu RW, et al. Position statement from the chromosome abnormality screening committee on behalf of the board of the international society for prenatal diagnosis. Prenat Diagn 2015;35:725-734.
18. Devers P, Cronister A, Ormond K, Facio F, Brasinton C. Noninvasive prenatal testing/noninvasive prenatal diagnosis: the position of the National Society of Genetic Counselors. J Genet Counsel 2013;22:291-295.
19. Palomaki GE, Kloza EM, Lambert-Messerlian GM, et al. DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study. Genet Med 2011;13:913-920.
20. Bianchi DW, Platt LD, Goldberg JD, Abuhamad AZ, Sehnert AJ, Rava RP; MatErnal BLood IS Source to Accurately diagnose fetal aneuploidy (MELISSA) Study Group. Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstet Gynecol 2012;119:890-901.
21. Norton ME, Brar H, Weiss J, et al. Non-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18. Am J Obstet Gynecol 2012;207:137.e1-137.e8.
22. Nicolaides KH, Syngelaki A, Gil M, Atanasova V, Markova D. Validation of targeted sequencing of single-nucleotide polymorphisms for non-invasive prenatal detection of aneuploidy of chromosomes 13, 18, 21, X, and Y. Prenat Diagn 2013;33:575-579.
23. Bianchi DW, Parker RL, Wentworth J, et al.; CARE Study Group. DNA sequencing versus standard prenatal aneuploidy screening. N Engl J Med 2014;370:799-808.
24. Norton ME, Jacobsson B, Swamy GK, et al. Cell-free DNA analysis for noninvasive examination of trisomy. N Engl J Med 2015;372:1589-1597.
25. Zhang H, Gao Y, Jiang F, et al. Non-invasive prenatal testing for trisomies 21, 18 and 13: clinical experience from 146,958 pregnancies. Ultrasound Obstet Gynecol 2015;45:530-538.
26. Committee Opinion no. 640: cell-free DNA screening for fetal aneuploidy. Obstet Gynecol 2015;126:e31-37.
27. Deverka P, Messner DA, McCormack R, et al. Generating and evaluating evidence of the clinical utility of molecular diagnostic tests in oncology. Genet Med 2016;18:780-787.
28. Khoury MJ, Coates RJ, Evans JP. Evidence-based classification of recommendations on use of genomic tests in clinical practice: dealing with insufficient evidence. Genet Med 2010;12:680-683.
29. US Food and Drug Administration. The Public Health Evidence for FDA Oversight of Laboratory Developed Tests: 20 Case Studies. 2015. http://www.fda.gov/downloads/AboutFDA/ReportsManualsForms/Reports/UCM472777.pdf.
30. Gil MM, Quezada MS, Revello R, Akolekar R, Nicolaides KH. Analysis of cellfree DNA in maternal blood in screening for fetal aneuploidies: updated metaanalysis. Ultrasound Obstet Gynecol 2015;45:249-266.
31. Allyse M, Chandrasekharan S. Too much, too soon?: commercial provision of noninvasive prenatal screening for subchromosomal abnormalities and beyond. Genet Med 2015;17:958-961.
32. Trosman JR, Van Bebber SL, Phillips KA. Coverage policy development for personalized medicine: private payer perspectives on developing policy for the 21-gene assay. J Oncol Pract 2010;6:238-242.
33. SMFM Statement: clarification of recommendations regarding cell-free DNA aneuploidy screening. Am J Obstet Gynecol 2015;213:753-754.
34. Armstrong J, Toscano M, Kotchko N, et al. Utilization and outcomes of BRCA genetic testing and counseling in a national commercially insured population: the ABOUT study. JAMA Oncol 2015;1:1251-1260.
35. Markens S. "It just becomes much more complicated": genetic counselors' views on genetics and prenatal testing. New Genet Soc 2013;32:302-321.
36. Wang JC, Sahoo T, Schonberg S, et al. Discordant noninvasive prenatal testing and cytogenetic results: a study of 109 consecutive cases. Genet Med 2015;17:234-236.
37. Grati FR, Malvestiti F, Ferreira JC, et al. Fetoplacental mosaicism: potential implications for false-positive and false-negative noninvasive prenatal screening results. Genet Med 2014;16:620-624.
38. Snyder MW, Simmons LE, Kitzman JO, et al. Copy-number variation and false positive prenatal aneuploidy screening results. N Engl J Med 2015;372: 1639-1645.
39. Markus AR, Andres E, West KD, Garro N, Pellegrini C. Medicaid covered births, 2008 through 2010, in the context of the implementation of health reform. Womens Health Issues 2013;23:e273-e280.
40. Kitzman JO, Snyder MW, Ventura M, et al. Noninvasive whole-genome sequencing of a human fetus. Sci Transl Med 2012;4:137ra76.