Economic evaluation of reproductive carrier screening for recessive genetic conditions: a systematic review

References

• National Center for Advancing Translational Sciences. About rare diseases. [cited 2019 Dec 4]. Available from: https://rarediseases.info.nih.gov/diseases/pages/31/faqs-about-rare-diseases
   Google Scholar
• World Health Organization. Genes and human diseases - Monogenic diseases.
   Google Scholar
• McCandless SE, Brunger JW, Cassidy SB. The burden of genetic disease on inpatient care in a children’s hospital. Am J Hum Genet. 2004;74(1):121–127.
   PubMed Web of Science ®Google Scholar
• Ropers -H-H. On the future of genetic risk assessment. J Community Genet. 2012;3(3):229–236.
   PubMedGoogle Scholar
• Bell CJ, Dinwiddie DL, Miller NA, et al. Carrier testing for severe childhood recessive diseases by next-generation sequencing. Sci Transl Med. 2011;3(65):65ra4.
   PubMed Web of Science ®Google Scholar
• Archibald AD, Smith MJ, Burgess T, et al. Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests. Genet Med. 2018;20(5):513.
   PubMed Web of Science ®Google Scholar
• U.S. National Library of Medicine. Zolgensma-onasemnogene abeparvovec-xioi kit full prescribing information: dailyMed. [cited 2019 November 25]. Available from: https://dailymed.nlm.nih.gov/dailymed/drugInfo.cfm?setid=68cd4f06-70e1-40d8-bedb-609ec0afa471
   Google Scholar
• Yeager, A. FDA approves gene therapy for spinal muscular atrophy 2019 July 30, 2019 [ updated 2019 May 27]; Available from: https://www.the-scientist.com/news-opinion/fda-approves-gene-therapy-for-spinal-muscular-atrophy-65935
   Google Scholar
• Thomas K. Costly drug for fatal muscular disease wins F.D.A. approval. 2016 [cited 2019 Nov 17]. Available from: https://www.nytimes.com/2016/12/30/business/spinraza-price.html
   Google Scholar
• Beck M. New therapeutic options for lysosomal storage disorders: enzyme replacement, small molecules and gene therapy. Hum Genet. 2007;121(1):1–22.
   PubMed Web of Science ®Google Scholar
• Middleton PG, Mall MA, Dřevínek P, et al. Elexacaftor–tezacaftor–ivacaftor for cystic fibrosis with a single Phe508del allele. N Engl J Med. 2019;381(19):1809–1819.
   PubMed Web of Science ®Google Scholar
• Heijerman HG, McKone EF, Downey DG, et al. Efficacy and safety of the elexacaftor plus tezacaftor plus ivacaftor combination regimen in people with cystic fibrosis homozygous for the F508del mutation: a double-blind, randomised, phase 3 trial. Lancet. 2019;394(10212):1940–1948.
   PubMed Web of Science ®Google Scholar
• Zlotogora J, Grotto I, Kaliner E, et al. The Israeli national population program of genetic carrier screening for reproductive purposes. Genet Med. 2015;18(2):203.
   PubMed Web of Science ®Google Scholar
• Bombard Y, Miller FA, Hayeems RZ, et al. Reconsidering reproductive benefit through newborn screening: a systematic review of guidelines on preconception, prenatal and newborn screening. Eur J Hum Genet. 2010;18(7):751.
   PubMed Web of Science ®Google Scholar
• Lew RM, Proos AL, Burnett L, et al. Tay Sachs disease in Australia: reduced disease incidence despite stable carrier frequency in Australian Jews. Med J Aust. 2012;197(11–12):652–654.
   PubMed Web of Science ®Google Scholar
• National Human Genome Research Institute. DNA sequencing costs: data, [cited 2020 April 20]. Available from: https://www.genome.gov/about-genomics/fact-sheets/DNA-Sequencing-Costs-Data
   Google Scholar
• Norman R, Van Gool K, Hall J, et al., Cost-effectiveness of carrier screening for cystic fibrosis in Australia [Article]. J Cyst Fibros. 11(4): 281–287. 2012.
   PubMed Web of Science ®Google Scholar
• American College of Obstetricians Gynecologists. Committee opinion No. 690: carrier screening in the age of genomic medicine. Obstet Gynecol. 2017;129(3):595–596.
   PubMed Web of Science ®Google Scholar
• Pletcher BA, Bocian M. Preconception and prenatal testing of biologic fathers for carrier status. Genet Med. 2006;8(2):134.
   PubMed Web of Science ®Google Scholar
• The Royal Australian College of General Practitioners. Genomics in general practice. East Melbourne (Victoria): RACGP; 2019 cited 2020 Mar 12; Available from https://www.racgp.org.au/clinical-resources/clinical-guidelines/key-racgp-guidelines/view-all-racgp-guidelines/genomics-in-general-practice/reproductive-carrier-screening.
   Google Scholar
• Genomics Advisory Working Group and Women’s Health Committee. Genetic carrier screening, March 2019, The Royal Australian and New Zealand College of Obstetricians and Gynaecologists. 2019.
   Google Scholar
• Rowe CA, Wright CF. Expanded universal carrier screening and its implementation within a publicly funded healthcare service. J Community Genet. 2019;11(1):21–38.
   PubMed Web of Science ®Google Scholar
• Delatycki MB. Population screening for reproductive risk for single gene disorders in Australia: now and the future. Twin Res Human Genet. 2008;11(4):422–430.
   PubMed Web of Science ®Google Scholar
• Kraft SA, Duenas D, Wilfond BS, et al. The evolving landscape of expanded carrier screening: challenges and opportunities. Genet Med. 2019;21(4):790–797.
   PubMed Web of Science ®Google Scholar
• Drummond MF, Sculpher MJ, Claxton K, et al. Methods for the economic evaluation of health care programmes. Oxford: Oxford university press; 2015.
   Google Scholar
• Fragoulakis V, Mitropoulou C, Williams M, et al. Economic evaluation in genomic medicine. London: Academic Press; 2015.
   Google Scholar
• Mathes T, Jacobs E, Morfeld J-C, et al. Methods of international health technology assessment agencies for economic evaluations-a comparative analysis. BMC Health Serv Res. 2013;13(1):371.
   PubMed Web of Science ®Google Scholar
• National Institute for Health Care Excellence. NICE process and methods guides, guide to the methods of technology appraisal 2013. London: National Institute for Health and Care Excellence (NICE); 2013.
   Google Scholar
• Canadian Agency for Drugs Technologies in Health. Guidelines for the economic evaluation of health technologies: Canada. Guidelines for the economic evaluation of health technologies. Canada: CADTH; 2006.
   Google Scholar
• Medical Services Advisory Committee. Technical guidelines for preparing assessment reports for the medical services advisory committee–medical service type: therapeutic. Australia: Australian Government: Department of Health; 2016.
   Google Scholar
• Radhakrishnan M, Van Gool K, Hall J, et al. Economic evaluation of cystic fibrosis screening: a review of the literature. Health Policy. 2008;85(2):133–147.
   PubMed Web of Science ®Google Scholar
• Azimi M, Schmaus K, Greger V, et al., Carrier screening by next-generation sequencing: health benefits and cost effectiveness [Article]. Mol Genet Genomic Med. 4(3): 292–302. 2016.
   PubMed Web of Science ®Google Scholar
• Beauchamp KA, Johansen Taber KA, Muzzey D. Clinical impact and cost-effectiveness of a 176-condition expanded carrier screen [Article]. Genet Med. 2019;21:1948–1957.
   Web of Science ®Google Scholar
• Moher D, Liberati A, Tetzlaff J, et al. Preferred reporting items for systematic reviews and meta-analyses: the PRISMA statement. Ann Intern Med. 2009;151(4):264–269.
   PubMed Web of Science ®Google Scholar
• Haque IS, Lazarin GA, Kang HP, et al. Modeled fetal risk of genetic diseases identified by expanded carrier screening. JAMA. 2016;316(7):734–742.
   PubMed Web of Science ®Google Scholar
• Zhang L, Bao Y, Riaz M, et al. Population genomic screening of all young adults in a health-care system: a cost-effectiveness analysis. Genet Med. 2019;21(9):1958–1968.
   Google Scholar
• van der Riet AA, van Hout BA, Rutten FF. Cost effectiveness of DNA diagnosis for four monogenic diseases. J Med Genet. 1997;34(9):741–745.
   PubMed Web of Science ®Google Scholar
• Husereau D, Drummond M, Petrou S, et al. Consolidated Health Economic Evaluation Reporting Standards (CHEERS) statement. Int J Technol Assess Health Care. 2013 Apr;29(2):117–122.
   PubMed Web of Science ®Google Scholar
• Ginsberg G, Blau H, Kerem E, et al., Cost-benefit analysis of a national screening programme for cystic fibrosis in an Israeli population [Article]. Health Econ. 3(1): 5–23. 1994.
   PubMed Web of Science ®Google Scholar
• Lieu TA, Watson SE, Washington AE. The cost-effectiveness of prenatal carrier screening for cystic fibrosis [Article]. Obstet Gynecol. 1994;84(6):903–912.
   PubMed Web of Science ®Google Scholar
• Cuckle HS, Richardson GA, Sheldon TA, et al., Cost effectiveness of antenatal screening for cystic fibrosis [Article]. BMJ. 311(7018): 1460. 1995.
   PubMed Web of Science ®Google Scholar
• Morris JK, Oppenheimer PM. Cost comparison of different methods of screening for cystic fibrosis [Article]. J Med Screen. 1995;2(1):22–27.
   PubMedGoogle Scholar
• Asch DA, Hershey JC, Dekay ML, et al., Carrier screening for cystic fibrosis: costs and clinical outcomes. Med Decis Making. 18(2): 202–212. 1998.
   PubMed Web of Science ®Google Scholar
• Rowley PT, Loader S, Kaplan RM. Prenatal screening for cystic fibrosis carriers: an economic evaluation [Article]. Am J Hum Genet. 1998;63(4):1160–1174.
   PubMed Web of Science ®Google Scholar
• Vintzileos AM, Ananth CV, Smulian JC, et al. A cost-effectiveness analysis of prenatal carrier screening for cystic fibrosis [Article]. Obstet Gynecol. 1998;91(4):529–534.
   PubMed Web of Science ®Google Scholar
• Wildhagen MF, Hilderink HB, Verzijl JG, et al., Costs, effects, and savings of screening for cystic fibrosis gene carriers [Research support, non-U.S. Gov’t]. J Epidemiol Community Health. 52(7): 459–467. 1998.
   PubMed Web of Science ®Google Scholar
• Wildhagen MF, Van Os TA, Polder JJ, et al., Explorative study of costs, effects and savings of screening for female fragile X premutation and full mutation carriers in the general population. Public Health Genomics. 1(1): 36–47. 1998.
   Google Scholar
• Verheij JB, Wildhagen MF, Hofstra R, et al., Preconceptional screening of couples for carriers of cystic fibrosis: a prospective evaluation of effects, costs and savings for different mutation detection methods. Public Health Genomics. 2(2–3): 74–81. 1999.
   Google Scholar
• Vintzileos AM, Ananth CV, Fisher AJ, et al. Economic evaluation of prenatal carrier screening for fragile X syndrome [Review]. J Matern Fetal Med. 1999;8(4):168–172.
   PubMedGoogle Scholar
• Nielsen R, Gyrd-Hansen D. Prenatal screening for cystic fibrosis: an economic analysis [Article]. Health Econ. 2002;11(4):285–299.
   PubMed Web of Science ®Google Scholar
• Doyle NM, Gardner MO. Prenatal cystic fibrosis screening in Mexican Americans: an economic analysis [Conference Paper]. Am J Obstet Gynecol. 2003;189(3):769–774.
   PubMed Web of Science ®Google Scholar
• Hollingsworth B, Harris A. Economic evaluation of prenatal population screening for fragile X syndrome [Article]. Community Genet. 2005;8(2):68–72.
   PubMedGoogle Scholar
• Musci TJ, Caughey AB. Cost-effectiveness analysis of prenatal population-based fragile X carrier screening. Am J Obstet Gynecol. 2005;192(6):1905–1912. discussion 1912–5.
   PubMed Web of Science ®Google Scholar
• Weijers-Poppelaars FAM, Wildhagen MF, Henneman L, et al., Preconception cystic fibrosis carrier screening: costs and consequences [Article]. Genet Test. 2005;9(2): 158–166.
   PubMedGoogle Scholar
• Wei S, Quigg MH, Monaghan KG. Is cystic fibrosis carrier screening cost effective? [Article]. Community Genet. 2007;10(2):103–109.
   PubMedGoogle Scholar
• Little SE, Janakiraman V, Kaimal A, et al., The cost-effectiveness of prenatal screening for spinal muscular atrophy [Article]. Am J Obstet Gynecol. 2010;202(3): 253.e1–253.e7.
   PubMed Web of Science ®Google Scholar
• Maxwell S, Brameld K, Youngs L, et al., Informing policy for the Australian context - Costs, outcomes and cost savings of prenatal carrier screening for cystic fibrosis [Article]. Aust N Z J Obstet Gynaecol. 2010;50(1): 51–59.
   PubMed Web of Science ®Google Scholar
• Bryan S, Dormandy E, Roberts T, et al., Screening for sickle cell and thalassaemia in primary care: a cost-effectiveness study [Article]. Br J Gen Pract. 2011;61(591): e620–e627.
   PubMed Web of Science ®Google Scholar
• Henneman L, Borry P, Chokoshvili D, et al. Responsible implementation of expanded carrier screening. Eur J Hum Genet. 2016;24(6):e1–e12.
   PubMed Web of Science ®Google Scholar
• Australian Bureau of Statistics. 2016 census statistics. 2016. Australia: Australian Bureau of Statistics.
   Google Scholar