Why is genetic screening for autosomal dominant disorders underused in families? the case of hereditary hemorrhagic telangiectasia

Genetics in Medicine

Volumn 13, Issue 9, 2011, Pages 812-820

  Bernhardt, Barbara A ^a,b   Zayac, Cara ^a   Pyeritz, Reed E ^a,b  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b HOSPITAL OF THE UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

barriers; genetic testing; hereditary hemorrhagic telangiectasia; online discussion; utilization

Indexed keywords

ADULT; AGED; ARTICLE; ATTITUDE TO HEALTH; DENIAL; FEAR; FEMALE; GENETIC SCREENING; GUILT; HEALTH CARE ACCESS; HEALTH INSURANCE; HEALTH SURVEY; HUMAN; MAJOR CLINICAL STUDY; MALE; RENDU OSLER WEBER DISEASE; SOCIAL STIGMA;

FEMALE; GENETIC TESTING; HUMANS; MALE; TELANGIECTASIA, HEREDITARY HEMORRHAGIC;

EID: 80052578272     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1097/GIM.0b013e31821d2e6d     Document Type: Article

References (53)

1. Grosse SD, Kalman L, Khoury MJ. Evaluation of the validity and utility of genetic testing for rare diseases. Adv Exp Med Biol 2010;686:115-131.
2. Wordsworth S, Leal J, Blair E, et al. DNA testing for hypertrophic cardio-myopathy: a cost-effectiveness model. Eur Heart J 2010;31:926-935.
3. Christiaans I, Wilde AA. The patient with hypertrophic cardiomyopathy has a family. Heart 2011;97:262-263.
4. Christiaans I, Birnie E, Bonsel GJ, Wilde AAM, van Langen IM. Uptake of genetic counselling and predictive DNA testing in hypertrophic cardiomy-opathy. Eur J Hum Genet 2008;16:1201-1207.
5. Lerman C, Hughes C, Trock BJ, et al. Genetic testing in families with hereditary nonpolyposis colon cancer. J Am Med Assoc 1999;281:1618-1622. (Pubitemid 29211771)
6. Finlay E, Stopfer JE, Burlingame E, et al. Factors determining dissemination of results and uptake of genetic testing in families with known BRCA1/2 mutations. Genet Test 2008;12:81-91. (Pubitemid 351457781)
7. Rasmussen A, Alonso E, Ochoa A, et al. Uptake of genetic testing and long-term tumor surveillance in von Hippel-Lindau disease. BMC Med Genet 2010;11:4-12.
8. Hadley DW, Jenkins J, Dimond E, et al. Genetic counseling and testing in families with hereditary nonpolyposis colorectal cancer. Arch Intern Med 2003;163:573-582. (Pubitemid 36314345)
9. Sobel SK, Cowan DB. Impact of genetic testing for Huntington disease on the family system. Am J Med Genet 2000;90:49-59. (Pubitemid 30010830)
10. Gaff CL, Collins V, Symes T, Halliday J. Facilitating family communication about predictive genetic testing: probands' perceptions. J Genet Couns 2005;14:133-140. (Pubitemid 40922243)
11. Peterson SK, Watts BG, Koehly LM, et al. How families communicate about HNPCC genetic testing: findings from a qualitative study. Am J Med Genet 2003;119C:78-86. (Pubitemid 37064104)
12. Smart A. Impediments to DNA testing and cascade screening for hypertro-phic cardiomyopathy and long QT syndrome: a qualitative study of patient experiences. J Genet Couns 2010;19:630-639.
13. Brandt R, Ali Z, Sabel A, McHugh T, Gilman P. Cancer genetics evaluation: barriers to and improvements for referral. Genet Test 2008;12:9-12. (Pubitemid 351457780)
14. Apse KA, Biesecker BB, Giardiello FM, Fuller BP, Bernhardt BA. Perceptions of genetic discrimination among at-risk relatives of colorectal cancer patients. Gen Med 2004;6:510-516. (Pubitemid 39576544)
15. Anderson RT, Press N, Tucker DC, et al. Patient acceptability of genotypic testing for hemochromatosis in primary care. Gen Med 2005;7:557-563. (Pubitemid 41566482)
16. Reyes M, Dunet DO, Isenberg KB, Trisolini M, Wagener DK. Family-based detection for hereditary hemochromatosis. J Genet Couns 2008;17:92-100. (Pubitemid 351230513)
17. Faughnan ME, Palda VA, Garcia-Tsao G, et al. International guidelines for the diagnosis and management of hereditary hemorrhagic telangiectasia. J Med Genet 2011;48:73-87.
18. Shovlin CL, Guttmacher AE, Buscarini E, et al. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Am J Med Genet 2000;91:66-67. (Pubitemid 30127562)
19. Sabba C, Pasculli G, Suppressa P, et al. Life expectancy in patients with hereditary haemorrhagic telangiectasia. Q J Med 2006;99:327-334.
20. Gedge F, McDonald J, Phansalkar A, et al. Clinical and analytical sensitivities in hereditary hemorrhagic telangiectasia testing and a report of de novo mutations. J Mol Diagn 2007;9:258-265. (Pubitemid 47305094)
21. McDonald J, Bavrak-Toydemir P, Pyertiz RE. Hereditary hemorrhagic tel-angiectasia: An overview of diagnosis, management, and pathogenesis. Genet Med 2011;13:607-616.
22. Richards-Yutz J, Grant K, Chao EC, Walther SE, Ganguly A. Update on molecular diagnosis of hereditary hemorrhagic telangiectasia. Hum Genet 2010;128:61-77.
23. Gallione CJ, Richards JA, Letteboer TG, et al. SMAD4 mutations found in unselected HHT patients. J Med Genet 2006;43:793-797. (Pubitemid 44654737)
24. Messner DA, Pyeritz RE, Bernhardt BA. Comment on the impact of gene patents and licensing practices on access to genetic testing: lessons from hereditary hemorrhagic telangiectasia. Gen Med 2010;12:746-748.
25. Tates K, Zwaanswijk M, Otten R, et al. Online focus groups as a tool to collect data in hard-to-include populations: examples from paediatric oncology. BMC Med Res Methodol 2009;9:15.
26. Fox FE, Morris M, Rumsey N. Doing synchronous online focus groups with young people: methodological reflections. Qual Health Res 2007;17:539-547. (Pubitemid 46563228)
27. Koehly LM, Peters JA, Kenen R, et al. Characteristics of health information gatherers, disseminators and blockers within families at risk of hereditary cancer: implications for family health communication interventions. Am J Pub Health 2009;99:2203-2209.
28. Vos J, Menko F, Jansen AM, van Asperen CJ, Stiggelbout AM, Tibben A. A whisper-game perspective on the family communication of DNA-test results: a retrospective study on the communication process of BRCA1/2-test results between proband and relatives. Fam Cancer 2011;10:87-96.
29. Hicken BL, Calhoun DA, Barton JC, Tucker DC. Attitudes about and psychosocial outcomes of HFE genotyping for hemochromatosis. Genet Test 2004;8:90-97. (Pubitemid 39096748)
30. Connolly T, Reb J. Regret in cancer-related decisions. Health Psychol 2005;24:S29-S34. (Pubitemid 41099122)
31. Falk MJ, Dugan RB, O'Riordan MA, Matthews AL, Robin NH. Medical geneticists' duty to warn at-risk relatives for genetic disease. Am J Med Genet A 2003;120A:374-380. (Pubitemid 37063773)
32. Forrest LE, Delatycki MB, Skene L, Aitken M. Communicating genetic information in families-a review of guidelines and position papers. Eur J Hum Genet 2007;15:612-618. (Pubitemid 46825050)
33. Chivers Seymour K, Addington-Hall J, Lucassen AM, Foster CL. What facilitates or impedes family communication following genetic testing for cancer risk? A systematic review and meta-synthesis of primary qualitative research. J Genet Couns 2010;19:330-342.
34. van der Roest WP, Pennings JM, Bakker M, van den Berg MP, van Tintelen JP. Family letters are an effective way to inform relatives about inherited cardiac disease. Am J Med Genet A 2009;149A:357-363.
35. McConkie-Rosell A, Finucane B, Cronister A, Abrams L, Bennett RL, Pettersen BJ. Genetic counseling for fragile X syndrome: updated recommendations of the National Society of Genetic Counselors. J Genet Couns 2005;14:249-270. (Pubitemid 41095420)
36. Scheuner MT, Sieverding P, Shekelle PG. Delivery of genomic medicine for common chronic adult diseases: a systematic review. JAMA 2008;299: 1320-1334. (Pubitemid 351439078)
37. Suther S, Goodson P. Barriers to the provision of genetic services by primary care physicians: a systematic review of the literature. Genet Med 2003;5:70-76. (Pubitemid 36992615)
38. Harvey EK, Fogel CE, Peyrot M, Christensen KD, Terry SF, McInerney JD. Providers' knowledge of genetics: a survey of 5915 individuals and families with genetic conditions. Genet Med 2007;9:259-267. (Pubitemid 46788191)
39. Hayflick SJ, Eiff MP, Carpenter L, Steinberger J. Primary care physicians' utilization and perceptions of genetics services. Gen Med 1998;1:13-18. (Pubitemid 128631162)
40. Acton RT, Barton JC, Casebeer L, Talley L. Survey of physician knowledge about hemochromatosis. Gen Med 2002;4:136-141. (Pubitemid 44698573)
41. Wideroff L, Vadaparampil ST, Greene MH, Taplin S, Olson L, Freedman AN. Hereditary breast/ovarian and colorectal cancer genetics knowledge in a national sample of US physicians. J Med Genet 2005;42:749-755. (Pubitemid 41475249)
42. Doksum T, Bernhardt BA, Holtzman NA. Carrier screening for cystic fibrosis among Maryland obstetricians before and after the 1997 NIH consensus conference. Genet Test 2001;5:111-116. (Pubitemid 32801827)
43. Morgan MA, Driscoll DA, Zinberg S, Schulkin J, Mennuti MT. Impact of self-reported familiarity with guidelines for cystic fibrosis carrier screening. Obstet Gynecol 2005;105:1355-1361. (Pubitemid 40734269)
44. Acheson L. Fostering applications of genetics in primary care: what will it take? Gen Med 2003;5:63-65. (Pubitemid 36992612)
45. Nedelcu R, Blazer KR, Schwerin BU, et al. Genetic discrimination: the clinician perspective. Clin Genet 2004;66:311-317. (Pubitemid 39317632)
46. Mountcastle-Shah E, Holtzman NA. Primary care physicians' perceptions of barriers to genetic testing and their willingness to participate in research. Am J Med Genet 2000;94:409-416.
47. Huizenga CR, Lowstuter K, Banks KC, Lagos VI, Vandergon VO, Weitzel JN. Evolving perspectives on genetic discrimination in health insurance among health care providers. Fam Cancer 2010;9:253-260.
48. Geller G, Tambor ES, Chase GA, Hofman KJ, Faden RR, Holtzman NA. Incorporation of genetics in primary care practice. will physicians do the counseling and will they be directive? Arch Fam Med 1993;2:1119-1125.
49. Hunter A, Wright P, Cappelli M, Kasaboski A, Surh L. Physician knowledge and attitudes towards molecular genetic (DNA) testing of their patients. Clin Genet 1998;53:447-455. (Pubitemid 28327737)
50. Shields AE, Blumenthal D, Weiss KB, Comstock CB, Currivan D, Lerman C. Barriers to translating emerging genetic research on smoking into clinical practice. Perspectives of primary care physicians. J Gen Intern Med 2005; 20:131-138. (Pubitemid 40626990)
51. Suther SG, Goodson P. Texas physicians' perceptions of genomic medicine as an innovation. Clin Genet 2004;65:368-377. (Pubitemid 38659705)
52. Bonham VL, Sellers SL, Gallagher TH, et al. Physicians' attitudes toward race, genetics, and clinical medicine. Genet Med 2009;11:279-286.
53. Lin AE, Terry SF, Lerner B, Anderson R, Irons M. Participation by clinical geneticists in genetic advocacy groups. Am J Med Genet 2003;119A:89-92. (Pubitemid 37063924)