Preconceptional genetic carrier testing and the commercial offer directly-to-consumers

Human Reproduction

Volumn 26, Issue 5, 2011, Pages 972-977

  Borry, Pascal ^a,b   Henneman, Lidewij ^b   Lakeman, Phillis ^b   Ten Kate, Leo P ^b   Cornel, Martina C ^b   Howard, Heidi C ^a  

^a UNIVERSITY OF LEUVEN   (Belgium)

^b VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

carrier testing; direct to consumer; preconception care

Indexed keywords

CLINICAL SUPERVISION; COMMERCIAL PHENOMENA; CONSUMER; FOLLOW UP; GENETIC ANALYSIS; GENETIC SCREENING; HETEROZYGOTE; HUMAN; MEDICAL INFORMATION; PRECONCEPTIONAL CARRIER SCREENING; REVIEW;

EID: 79955418872     PISSN: 02681161     EISSN: 14602350     Source Type: Journal    
DOI: 10.1093/humrep/der042     Document Type: Review

References (45)

1. Advisory Committee on Genetic Testing. Second Annual Report. January 1998-December 1998. Health Departments of the United Kingdom, London, UK, 1999.
2. Axworthy D, Brock DJ, Bobrow M, Marteau TM. Psychological impact of population-based carrier testing for cystic fibrosis: 3-year follow-up. UK Cystic Fibrosis Follow-Up Study Group. Lancet 1996;347:1443-1446. (Pubitemid 26161207)
3. Bekker H, Modell M, Denniss G, Silver A, Mathew C, Bobrow M, Marteau T. Uptake of cystic fibrosis testing in primary care: supply push or demand pull? Br Med J 1993;306:1584-1586. (Pubitemid 23164904)
4. Bekker H, Denniss G, Modell M, Bobrow M, Marteau T. The impact of population based screening for carriers of cystic fibrosis. J Med Genet 1994;31:364-368. (Pubitemid 24157248)
5. Bombard Y, Miller FA, Hayeems RZ, Avard D, Knoppers BM. Reconsidering reproductive benefit through newborn screening: a systematic review of guidelines on preconception, prenatal and newborn screening. Eur J Hum Genet 2010;18:751-760.
6. Borry P, Clarke A, Dierickx K. Look before you leap. Carrier screening for type 1 Gaucher disease: difficult questions. Eur J Hum Genet 2008; 16:139-140.
7. Borry P, Cornel MC, Howard HC. Where are you going, where have you been. Direct-to-consumer genetic tests for health purposes. J Commun Genet 2010;1:101-106.
8. Castellani C, Macek M Jr, Cassiman JJ, Duff A, Massie J, ten Kate LP, Barton D, Cutting G, Dallapiccola B, Dequeker E et al. Benchmarks for cystic fibrosis carrier screening: a European consensus document. J Cyst Fibros 2010;9:165-178.
9. European Society of Human Genetics. Population genetic screening programmes: technical, social and ethical issues. Eur J Hum Genet 2003;11 Suppl 2, S5-S7.
10. European Society of Human Genetics. Statement of the ESHG on direct-to-consumer genetic testing for health-related purposes. Eur J Hum Genet 2010;18:1271-1273.
11. Godard B, ten Kate L, Evers-Kiebooms G, Ayme S. Population genetic screening programmes: principles, techniques, practices, and policies. Eur J Hum Genet 2003;11 Suppl 2:49-87.
12. Grody WW, Cutting GR, Klinger KW, Richards CS, Watson MS, Desnick RJ. Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. Genet Med 2001;3:149-154.
13. Health Council of the Netherlands. Screening: Between Hope and Hype. Den Haag, 2008.
14. Henneman L, Bramsen I, Van der Ploeg HM, Ader HJ, Van der Horst HE, Gille JJ, ten Kate LP. Participation in preconceptional carrier couple screening: characteristics, attitudes, and knowledge of both partners. J Med Genet 2001;38:695-703. (Pubitemid 32946792)
15. Henneman L, Bramsen I, Van der Ploeg HM, ten Kate LP. Preconception cystic fibrosis carrier couple screening: impact, understanding, and satisfaction. Genet Test 2002;6:195-202. (Pubitemid 35332749)
16. Honnor M, Zubrick SR, Walpole I, Bower C, Goldblatt J. Population screening for cystic fibrosis in Western Australia: community response. Am J Med Genet 2000;93:198-204.
17. Howard H, Borry P. Direct-to-consumer genetic testing: more questions than benefits? Personalised Med 2008;5:317-320.
18. Human Genetics Commission. A Common Framework of Principles for direct-to-consumer genetic testing services, 2010. http://www.hgc. gov.uk/Client/document.asp?DocId=280&CAtegoryId=10 (11 August 2010, date last accessed).
19. Hunter DJ, Khoury MJ, Drazen JM. Letting the genome out of the bottle- will we get our wish? N Engl J Med 2008;358:105-107.
20. Janssens AC, Gwinn M, Bradley LA, Oostra BA, Van Duijn CM, Khoury MJ. A critical appraisal of the scientific basis of commercial genomic profiles used to assess health risks and personalize health interventions. Am J Hum Genet 2008;82:593-599. (Pubitemid 351726114)
21. Kaye J. The regulation of direct-to-consumer genetic tests. Hum Mol Genet 2008;17:R180-R183.
22. Keskin A, Turk T, Polat A, Koyuncu H, Saracoglu B. Premarital screening of beta-thalassemia trait in the province of Denizli, Turkey. Acta Haematol 2000;104:31-33.
23. Kolor K, Liu TB, St Pierre J, Khoury MJ. Health care provider and consumer awareness, perceptions, and use of direct-to-consumer personal genomic tests, United States, 2008. Genet Med 2009; 11:595.
24. Lachance CR, Erby LA, Ford BM, Allen VC Jr, Kaphingst KA. Informational content, literacy demands, and usability of websites offering health-related genetic tests directly to consumers. Genet Med 2010; 12:304-312.
25. Lakeman P, Plass AMC, Henneman L, Bezemer PD, Cornel MC, ten Kate LP. Preconceptional ancestry-based carrier couple screening for cystic fibrosis and haemoglobinopathies: what determines the intention to participate or not and actual participation? Eur J Hum Genet 2009;17:999-1009.
26. Leib JR, Gollust SE, Hull SC, Wilfond BS. Carrier screening panels for Ashkenazi Jews: is more better? Genet Med 2005;7:185-190. (Pubitemid 40478155)
27. Levenson D. New test could make carrier screening more accessible. Am J Med Genet A 2010;152A:vii-iii.
28. McClaren BJ, Delatycki MB, Collins V, Metcalfe SA, Aitken M. 'It is not in my world': an exploration of attitudes and influences associated with cystic fibrosis carrier screening. Eur J Hum Genet 2008;16:435-444. (Pubitemid 351420376)
29. McQueen MJ. Some ethical and design challenges of screening programs and screening tests. Clin Chim Acta 2002;315:41-48. (Pubitemid 33145247)
30. Melzer D, Hogarth S, Liddell K, Ling T, Sanderson S, Zimmern RL. Genetic tests for common diseases: new insights, old concerns. Br Med J 2008; 336:590-593. (Pubitemid 351439515)
31. Modell B, Kuliev AM. Services for thalassaemia as a model for cost-benefit analysis of genetics services. J Inherit Metab Dis 1991;14:640-651.
32. Modell B, Petrou M, Layton M, Varnavides L, Moisely C, Ward RH, Rodeck C, Nicolaides K, Fitches A, Old J. Audit of prenatal diagnosis for hemoglobin disorders in the United Kingdom. The first twenty years. Ann N Y Acad Sci 1998;850:420-422.
33. Molster C, Charles T, Samanek A, O'Leary P. Australian study on public knowledge of human genetics and health. Public Health Genomics 2009;12:84-91.
34. Morgan MA, Driscoll DA, Mennuti MT, Schulkin J. Practice patterns of obstetrician-gynecologists regarding preconception and prenatal screening for cystic fibrosis. Genet Med 2004;6:450-455. (Pubitemid 39304384)
35. National Institutes of Health. Genetic testing for cystic fibrosis. National Institutes of Health Consensus Development Conference Statement on genetic testing for cystic fibrosis. Arch Intern Med 1999;159: 1529-1539.
36. Nuffield Council of Bioethics. Genetic screening: a Supplement to the 1993 Report. Nuffield Council on Bioethics, London, 2006.
37. Poppelaars FAM, Van der Wal G, Braspenning JCC, Cornel MC, Henneman L, Langendam MW, ten Kate LP. Possibilities and barriers in the implementation of a preconceptional screening programme for cystic fibrosis carriers: a focus group study. Public Health 2003; 117:396-403. (Pubitemid 37321767)
38. Poppelaars FA, Ader HJ, Cornel MC, Henneman L, Hermens RP, Van der Wal G, ten Kate LP. Attitudes of potential providers towards preconceptional cystic fibrosis carrier screening. J Genet Couns 2004a; 13:31-44. (Pubitemid 39024182)
39. Poppelaars FA, Cornel MC, ten Kate LP. Current practice and future interest of GPs and prospective parents in pre-conception care in The Netherlands. Fam Pract 2004b;21:307-309. (Pubitemid 38765308)
40. Poppelaars FA, Henneman L, Ader HJ, Cornel MC, Hermens RP, Van der WG, ten Kate LP. Preconceptional cystic fibrosis carrier screening: attitudes and intentions of the target population. Genet Test 2004c;8:80-89. (Pubitemid 39096747)
41. Tambor ES, Bernhardt BA, Chase GA, Faden RR, Geller G, Hofman KJ, Holtzman NA. Offering cystic fibrosis carrier screening to an HMO population: factors associated with utilization. Am J Hum Genet 1994; 55:626-637. (Pubitemid 24298960)
42. UK National Screening Committee. Criteria for appraising the viability, effectiveness and appropriateness of a screening programme. 2003. www.nsc.nhs.uk.
43. Wilson J, Jungner G. Principles and Practice of Screening for Disease. Geneva: WHO, 1968.
44. Zimran A, Zaizov R, Zlotogora J. [Large scale screening for Gaucher's disease in Israel-a position paper by the National Gaucher Committee of the Ministry of Health]. Harefuah 1997;133:107-108.
45. Zuckerman S, Lahad A, Shmueli A, Zimran A, Peleg L, Orr-Urtreger A, Levy-Lahad E, Sagi M. Carrier screening for Gaucher disease: lessons for low-penetrance, treatable diseases. J Am Med Assoc 2007;298: 1281-1290. (Pubitemid 47443342)