Youth perspectives on genetic inheritance, carrier status and disclosure

1. Rischewski JR. Bleeding disorders: a blot on the paediatric landscape? Eur Paed 2008; 2(1): 55-57.Search in Google Scholar

2. Moore GW, Knight G, Blann AD. Haematology: Fundamentals of Biomedical Science. Oxford: Oxford University Press, 2010.Search in Google Scholar

3. Soucie JM, Evatt B, Jackson D. The Hemophilia Surveillance Project Investigators. Occurrence of haemophilia in the US. Am J Hematol 1998; 59: 288-94.10.1002/(SICI)1096-8652(199812)59:4<288::AID-AJH4>3.0.CO;2-ISearch in Google Scholar

4. Tuddenham EG, Pemberton S, Cooper DN. Inherited factor V11 deficiency: genetics and molecular pathology. Thromb Haemost 1995; 74: 313-21.10.1055/s-0038-1642696Search in Google Scholar

5. Uprichard J, Perry DJ. Factor X deficiency. Blood Rev 2002; 16: 97-110.10.1054/blre.2002.0191Open DOISearch in Google Scholar

6. Invaskevicius, V, Seitz R, Kohler HP. International registry on factor XIII deficiency: a basis formed mostly on European data. Thromb Haemost 2007; 97: 914-21.10.1160/TH07-01-0034Search in Google Scholar

7. Asselta, R, Duga S, Tenchini ML. The molecular base of quantitative fibrinogen disorder. J Thromb Haemost 2006; 4: 2115-29.10.1111/j.1538-7836.2006.02094.xOpen DOISearch in Google Scholar

8. Girolami A, Scarano L, Saggiorato G. Congenital deficiencies and abnormalities of prothrombin. Blood Coagul Fibrinolysis 1998; 9: 557-69.10.1097/00001721-199810000-00001Open DOISearch in Google Scholar

9. George JN, Caen JP, Nurden AT. Glanzmann’s thrombasthenia: the spectrum of clinical disease. Blood 1990; 75: 1383-95.10.1182/blood.V75.7.1383.1383Search in Google Scholar

10. The Centre for Genetics Education (online) www.genetics.edu.au. (Accessed 24 November 2014).Search in Google Scholar

11. Spitzer A. Children’s knowledge of illness and treatment experiences in haemophilia. J Ped Nursing 1992; 7(1): 43-51.Search in Google Scholar

12. Khair K, Gibson F, Meerabeau L. Just an unfortunate coincidence? Children’s understanding of haemophilia genetics and inheritance. Haemophilia 2011; 17: 470-5.10.1111/j.1365-2516.2010.02448.xOpen DOISearch in Google Scholar

13. Gray NJ. Health information on the internet - a double-edged sword? J Adol Health 2008; 42: 432-3.Search in Google Scholar

14. Greenfield P, Yan Z. Children, adolescents and the internet. A new field of inquiry in developmental psychology. Dev Psychol 2006; 42: 391-4.10.1037/0012-1649.42.3.391Open DOISearch in Google Scholar

15. Barlow J, Stapley J, Ellard D. Living with haemophilia and von Willebrand’s: a descriptive quantitative study. Patient Educ Couns 2007; 68: 235-42.10.1016/j.pec.2007.06.006Open DOISearch in Google Scholar

16. Mähler C, Ahrens S. Intuitive biology in children’s thinking: Can preschoolers distinguish between biology and social relationships? Z Entwickl Padagogis 2003; 35 (3): 153-62.Search in Google Scholar

17. Terwogt MM, Stegge H, Reiffe C. Children’s understanding of inherited resemblance: the case of two parents. Int J Behav Dev 2003; 27(4): 366-74.10.1080/01650250344000037Open DOISearch in Google Scholar

18. Williams JM, Smith LA. Social and experiential influences on the development of inheritance concepts. Int J Behav Dev 2006; 30(2): 148-57.10.1177/0165025406063630Open DOISearch in Google Scholar

19. Evans ME. The emergence of beliefs about the origins of species in school-age children. Merrill-Palmer Quarterly 2000, 46(2): 221-54.Search in Google Scholar

20. Thomas J. Learning about genes and evolution through formal and informal education. Studies in Science Education 2000; 35: 59-92.10.1080/03057260008560155Search in Google Scholar

21. Lindvall K, Colstrup L, Woller I-M. Compliance with treatment and understanding of own disease in patients with severe and moderate haemophilia. Haemophilia 2006; 12: 47-51.10.1111/j.1365-2516.2006.01192.xSearch in Google Scholar

22. Lindvall K, Colstrup L, Loogna K, et al. Knowledge of disease and adherence in adult patients with haemophilia. Haemophilia 2010; 16: 592-6.10.1111/j.1365-2516.2009.02189.xSearch in Google Scholar

23. Miller K, Guelcher C, Taylor A. Haemophilia A: Patients knowledge level of treatment and sources of treatment-related information. Haemophilia 2009; 15: 73-7.10.1111/j.1365-2516.2008.01875.xOpen DOISearch in Google Scholar

24. Lanie AD, Jayaratne TE, Sheldon JP, et al. Exploring the public understanding of basic genetic concepts. J Genet Couns 2004; 13: 305-20.10.1023/B:JOGC.0000035524.66944.6dSearch in Google Scholar

25. Featherstone K, Atkinson P, Bharadwaj A, Clarke A. Risky Relationships: Family, Kinship and the New Genetics. Oxford: Berg, 2006.Search in Google Scholar

26. Szybowska M, Hewson S, Beverley JA, Babul-Hirji R. Assessing the informational need of adolescents with a genetic condition: What do they want to know? J Genet Couns 2007; 16 (2): 201-10.Search in Google Scholar

27. Sobel S, Cowan CB. Ambiguous loss and disenfranchised grief: The impact of DNA predictive testing on the family as a system. Fam Process 2003; 32(1): 47-57.10.1111/j.1545-5300.2003.00047.xOpen DOISearch in Google Scholar

28. McConkie-Rosell A, Spiridigliozzi GA, Heise EM. Genetic risk communication: experiences of adolescent girls and young women from families with fragile X syndrome. J Genet Couns 2009; 18(4): 313-25.10.1007/s10897-009-9215-2Search in Google Scholar

29. Fanos JH, Puck JM. Family pictures: growing up with a brother with X-linked SCID. Am J Med Genet 2001; 98(1): 57-63.10.1002/1096-8628(20010101)98:1<57::AID-AJMG1007>3.0.CO;2-JSearch in Google Scholar

30. Tercyak KP, Peshki BN, Demarco TA, et al. Parent-child factors and their effect on communications BRCA 1/2 test results to children. Patient Educ Couns 2002; 47 (2): 145-53.10.1016/S0738-3991(01)00192-6Search in Google Scholar

31. Forrest K, Simpson SA, Wilson BJ. To tell or not to tell: barriers and facilitators in family communication about genetic risk. Clin Genet 2003; 64 (4): 317-26.10.1034/j.1399-0004.2003.00142.xOpen DOISearch in Google Scholar

32. Meisfeldt S, Cohn WF, Jones SM, et al. Breast cancer survivors’ attitudes about communication of breast cancer risk to their children. Am J Med Genet C Semin Med Genet 2003; 119C (1): 45-50.10.1002/ajmg.c.10012Search in Google Scholar

33. Young B, Dixon-Woods M, Windridge KC, Heney D. Managing communication with young people who have a potential life threatening chronic illness: quantitative study of patients and parents. BMJ 2006; 326(7384): 305-8.10.1136/bmj.326.7384.305Search in Google Scholar

34. James CA, Hadley DW, Holtzman NA, Wilkelstein MD. How does the mode of inheritance of a genetic condition influence families? A study of guilt, blame, stigma and understanding of inheritance and reproductive risks in families with X-linked and autosomal recessive diseases. Genet Med 2006; 8 (4): 234-42.10.1097/01.gim.0000215177.28010.6eOpen DOISearch in Google Scholar

35. Kessler S, Kessler H, Ward P. Psychological aspects of genetic counselling III. Management of guilt and shame. Am J Med Genet 1984; 17: 673-97.10.1002/ajmg.1320170320Open DOISearch in Google Scholar

36. Weiss JO. Psychosocial stress in genetic disorders: a guide for social workers. Soc Work Health Care 1981; 6: 17-31.732393410.1300/J010v06n04_02Search in Google Scholar

37. Fanos JH, Davies J, Puck JM. Sib understanding of genetics and attitudes towards carrier testing for X-linked severe combined immunodeficiency. Am J Med Genet 2001; 98(1): 46-56.10.1002/1096-8628(20010101)98:1<46::AID-AJMG1008>3.0.CO;2-KSearch in Google Scholar

38. Conway SP, Pond MN, Hamnett T. Knowledge of adult patients with cystic fibrosis about their illness. Thorax 1996; 51: 34-8.10.1136/thx.51.1.34Search in Google Scholar

39. Etchegary H, Perrier C. Information processing in the context of genetic risk: Implications for genetic risk communication. J Genet Couns 2007; 16: 419-32.10.1007/s10897-006-9082-zSearch in Google Scholar

40. Ulph F, Townsend E, Glazebrook C. How should risk be communicated to children: a cross-sectional study comparing different formats of probability information. BMC Med Inform Decis Mak 2009; 9:26. Available from http://www.biomedcentral.com/1472-6947/9/26 (accessed 18 April 2016).Search in Google Scholar

41. Metcalfe A, Plumridge G, Coad J, et al. Parents’ and children’s communication about genetic risk: qualitative study learning from families’ experiences. Eur J Hum Genet 2011; 19: 640-6.10.1038/ejhg.2010.258Open DOISearch in Google Scholar

42. Meza-Espinoza JP, Auguiano, LO, Rivera H. Chromosomal abnormalities in couples with reproductive disorders. Gynecol Obstet Invest 2008; 66(4): 237-40.10.1159/000147170Open DOISearch in Google Scholar

43. Kulkarni R, Ponder KP, James AH, et al. Unresolved issues in diagnosis and management of inherited bleeding disorders in the perinatal period: A White Paper of the Perinatal Task Force of the Medical and Scientific Advisory Council of the National Hemophilia Foundation, USA. Haemophilia 2006; 12: 205-11.10.1111/j.1365-2516.2006.01277.xOpen DOISearch in Google Scholar

44. Miller R. Counselling about diagnosis and inheritance of genetic bleeding disorders: haemophilia A and B. Haemophilia 1999; 5:77-83.10.1046/j.1365-2516.1999.00288.xOpen DOISearch in Google Scholar

45. Jarvinen O, Aalto AM, Lebesjoki AB, et al. Carrier testing of children for two X-linked diseases in a family based setting: a retrospective long term psychosocial evaluation. J Med Genet 1999; 36: 615-20.Search in Google Scholar

46. Sparbel K, Driessnack M, Williams JK. The experiences of teens living in the shadow of Huntington Disease. J Genet Couns 2008; 17(4): 327-35.10.1007/s10897-008-9151-6Search in Google Scholar

47. McConkie-Rosell A, Spiridigliozzi GA, Sullivan JA, et al. Carrier testing in fragile X syndrome: when to tell and test. Am J Med Genet 2002; 110(1): 36-44.10.1002/ajmg.10396Search in Google Scholar

48. Thomas S, Herbert D, Street A, et al. Attitudes towards and beliefs about genetic testing in the haemophilia community: a quantitative study. Haemophilia 2007; 13: 633-41.10.1111/j.1365-2516.2007.01454.xOpen DOISearch in Google Scholar

49. James CA, Holtzman NA, Hadley DW. Perceptions of reproductive risk and carrier testing among adolescent sisters of males with chronic granulomatous disease. Am J Med Genet 2003; 119(1): 60-9.10.1002/ajmg.c.10007Search in Google Scholar

50. Järvinen O, Hietala M, Aalto AM, et al. A retrospective study of the psychosocial consequences and satisfaction after carrier testing in children with an autosomal recessive disease: aspartyglucosaminuria. Clin Genet 2000; 58: 447-54.10.1034/j.1399-0004.2000.580604.xSearch in Google Scholar

51. Jolly A, Parsons E, Clarke A. Identifying carriers of balanced translocation: Interviews with family members. In: Clarke AJ ed. The Genetic Testing of Children. Oxford. BIOS Scientific Publishers, 1998: 61-90.Search in Google Scholar

52. McConkie-Rosell A, Spiridigliozzi GA, Sullivan JA, et al. Carrier testing in the fragile X syndrome: effect on self-concept. Am J Med Genet 2000; 92: 336-42.10.1002/1096-8628(20000619)92:5<336::AID-AJMG8>3.0.CO;2-LOpen DOISearch in Google Scholar

53. Dunn NF, Miller A, Griffioen A, Lee CA. Carrier testing in haemophilia A and B: adult carriers’ and their partners’ experiences and their views on the testing of young females. Haemophilia 2008; 14: 584-92.10.1111/j.1365-2516.2007.01649.x18282148Open DOISearch in Google Scholar

54. McConkie-Rosell A, Spiridoglozzi GA. “Family matters”: a conceptual framework for genetic testing in children. J Genet Couns 2004; 13(1): 9-29.10.1023/B:JOGC.0000013379.90587.efSearch in Google Scholar

55. British Society for Human Genetics. Report on the Genetic Testing of Children. 2010. Available from http://www.bsgm.org.uk/media/678741/gtoc_booklet_final_new.pdf (accessed 18 April 2016).Search in Google Scholar

56. Rew L, Mackert M, Bonevac D. A systematic review of literature about the genetic testing of adolescents. J Spec Pediatr Nurs 2009; 14(4): 284-94.10.1111/j.1744-6155.2009.00210.x19796327Open DOISearch in Google Scholar

57. Borry P, Goffin T, Nys H, Dierickx K. Attitudes regarding carrier testing in incompetent children: a survey of European clinical geneticists. Eur J Hum Genet 2007; 15 (12): 1211-7.10.1038/sj.ejhg.520190917712355Open DOISearch in Google Scholar

58. Rosen A, Wallenstein S, McGovern MM. Attitudes of pediatric residents towards ethical issues associated with genetic testing in children. Pediatrics 2002; 110(2): 360-3.10.1542/peds.110.2.36012165591Search in Google Scholar

59. Kaye J. Testing times: what is the legal situation when an adolescent wants a genetic test? Clinical Ethics 2007; 2: 176-80.Search in Google Scholar

60. Borry P, Stultiens L, Goffin T, Nys H and Dierickx K. Minors and informed consent in carrier testing: a survey of European clinical geneticists. J Med Ethics 2008; 34 (5): 370-37410.1136/jme.2007.02171718448719Open DOISearch in Google Scholar

61. Winikoff R, Lee C. Hemophilia carrier status and counseling the symptomatic and asymptomatic adolescent. J Pediatr Adolesc Gynecol 2010; 23(6): S43-7.10.1016/j.jpag.2010.08.01021108512Search in Google Scholar

62. Borry P, Fryns JP, Schotsmans P, Dierickx K. Carrier testing in minors. a systematic review of guidelines and position papers. Eur J Hum Genet 2006; 14:133-8.10.1038/sj.ejhg.520150916267502Search in Google Scholar

63. Hogben S, Boddington P. Policy recommendations for carrier testing and predictive testing in childhood. A distinction that makes a real difference. J Genet Couns 2005; 14(4): 271-82.10.1007/s10897-005-4840-x16047090Search in Google Scholar

64. Clarke A. The genetic testing of children. Washington, DC: BIOS Scientific, 1998.Search in Google Scholar

65. Clarke A, Flinter R. The genetic testing of children: a clinical perspective. In: T. Marteau and M Richards eds, The Troubled Helix: Social and Psychological Implications of the New Human Genetics. New York: Cambridge University Press, 1996: 164-76.Search in Google Scholar

66. Fanos JH, Johnson JP. Barriers to carrier testing for adult cystic fibrosis sibs: the importance of not knowing. Am J Med Genet 1995; 59: 85-91.10.1002/ajmg.13205901178849018Search in Google Scholar

67. Elgar BS, Harding TW. Testing adolescents for a hereditary breast cancer gene (BRCA1): respecting their autonomy is in their best interest. Arch Pediatr Adolesc Med 2000; 154: 113-9.10.1001/archpedi.154.2.11310665596Search in Google Scholar

68. Clayton EW. Genetic testing in children. J Med Philos 1997; 22(3):233-51.10.1093/jmp/22.3.2339232510Open DOISearch in Google Scholar

69. Ludlam CA, Pasi KJ, Bolton-Maggs P, et al. A framework for genetic service provision for haemophilia and inherited bleeding disorders. Haemophilia 2005; 11: 145-63.10.1111/j.1365-2516.2005.01070.x15810917Open DOISearch in Google Scholar

70. Wehbe RM, Spiridigliozzi GA, Heise EM, et al. When to tell and test for genetic carrier status perspectives of adolescents and young adults from fragile X families. Am J Med Genet A 2009; 149A(6): 1190-9.10.1002/ajmg.a.32840275668619449413Search in Google Scholar

71. Gregory M, Boddington P, Dimond R, et al. Communicating about haemophilia within the family: the importance of context and of experience. Haemophilia 2007; 13(2): 189-98.10.1111/j.1365-2516.2006.01417.x17286773Open DOISearch in Google Scholar

72. Bowen DJ, Bourcier E, Press N, et al. Effects of individual and family functioning on interest in genetic testing. Community Genet 2004; 7(1):25-32.10.1159/00008030115475668Search in Google Scholar

73. Croyle RT, Lerman C. Risk communication in genetic testing for cancer susceptibility. J Natl Cancer Inst Monogr 1999; 25: 59-66.Search in Google Scholar

74. Kenen R, Ardern-Jones A, Eeles R. We are talking, but are they listening? Communication patterns in families with a history of breast/ovarian cancer. Psychooncology 2004; 13(5): 335-45.10.1002/pon.74515133774Search in Google Scholar

75. Wilson BJ, Forest K, van Teijlingen ER, et al. Family communication about genetic risk: The little that is known. Community Genet 2004; 7(1): 15-24.10.1159/00008030015475667Search in Google Scholar

76. Henneman L, Kooij L, Bouman K, ten Kate LP. Personal experiences of cystic fibrosis (CF) carrier couples prospectively identified in CF families. Am J Med Genet 2002; 110(4): 324-3110.1002/ajmg.1046412116205Search in Google Scholar

77. Hamilton RJ, Bowers BJ, Williams JK. Disclosing genetic test results to family members. J Nurs Scholarsh 2005; 37(1): 18-3410.1111/j.1547-5069.2005.00007.x15813582Search in Google Scholar

78. Smith KR, Zick CD, Mayer RN, Botkin JR. Voluntary disclosure of BRCA1 mutation test results. Genet Test 2002; 6(2): 89-92.10.1089/1090657026019933912215247Search in Google Scholar

79. Sorenson JR, Jennings-Grant T, Newman J. Communication about carrier testing within hemophilia A families. Am J Med Genet C Semin Med Genet 2003; 119C (1): 3-10.10.1002/ajmg.c.1000112704632Search in Google Scholar

80. Anido A, Carlson LM, Taft L, Sherman SL. Women’s attitudes toward testing for fragile X carrier status: a qualitative analysis. J Genet Couns 2007; 14(4): 295-306.10.1007/s10897-005-1159-616047092Search in Google Scholar

81. Stoffel EM, Ford B, Mercado RC, et al. Sharing genetic test results in Lynch syndrome: communication with close and distant relatives. Clin Gastroenterol Hepatol 2008; 6(3): 333-8.10.1016/j.cgh.2007.12.014253660718258490Search in Google Scholar

82. Beeton K, Neal D, Watson T, Lee, CA. Parents of children with haemophilia- a transforming experience. Haemophilia 2007; 13(5): 570-9.10.1111/j.1365-2516.2007.01494.x17880446Open DOISearch in Google Scholar

83. Cassis F. Psychosocial Care for People with Hemophilia. World Federation of Hemophilia Treatment of Haemophilia Monographs 44, 2007. Available from http://www1.wfh.org/publications/files/pdf-1198.pdf (accessed 18 April 2016).Search in Google Scholar

84. Hern, MJ, Beery, TA, Barry DG. Experiences of college-age youth in families with a recessive genetic condition. J Fam Nurs 2006; 12(2): 119-42.10.1177/107484070628740416621782Open DOISearch in Google Scholar