"Am I Carrier?" The Patient's Lived Experience of Thrombophilia Genetic Screening and Its Outcome

Overview

Journal Health Psychol Behav Med

Date 2015 Mar 10

PMID 25750812

Authors

Guendalina Graffigna

Daniela Leone

Elena Vegni

Affiliations

Soon will be listed here.

Abstract

How do patients with thrombophilia experience a physician's request to undergo a genetic test? How do they experience the test outcome? To answer these questions, we conducted an interpretative phenomenological analysis study, based on 10 in-depth interviews with patients who underwent genetic testing for thrombophilia in Italy, half with positive and half with negative results. The experience of undergoing genetic screening for thrombophilia plays an important role in reconfiguring patients' signification of their illness experience. A positive outcome becomes a cue to reorganize in a more adaptive way the illness meaning at the cognitive and emotive levels, whereas a negative outcome appears more distressing and confusing. As a clinical implication of the study, clinicians should consider communicating carefully with the patients regardless from the positive/negative test results and they should explore the patient's specific reaction and understanding of test result.

References

Heshka J, Palleschi C, Wilson B, Brehaut J, Rutberg J, Etchegary H . Cognitive and behavioural effects of genetic testing for thrombophilia. J Genet Couns. 2008; 17(3):288-96. DOI: 10.1007/s10897-008-9148-1. View

Tluczek A, Orland K, Cavanagh L . Psychosocial consequences of false-positive newborn screens for cystic fibrosis. Qual Health Res. 2010; 21(2):174-86. PMC: 3616662. DOI: 10.1177/1049732310382919. View

Hilgart J, Mercer J, Thirlaway K . Individuals' experiences of, and responses to, a negative genetic test result for familial hypercholesterolaemia. J Health Psychol. 2012; 18(3):339-49. DOI: 10.1177/1359105312443403. View

Tripodi A . A review of the clinical and diagnostic utility of laboratory tests for the detection of congenital thrombophilia. Semin Thromb Hemost. 2005; 31(1):25-32. DOI: 10.1055/s-2005-863802. View

Lindqvist P, Dahlback B . Reactions to awareness of activated protein C resistance carriership: a descriptive study of 270 women. Acta Obstet Gynecol Scand. 2003; 82(5):467-70. View

Howard A, Balneaves L, Bottorff J, Rodney P . Preserving the self: the process of decision making about hereditary breast cancer and ovarian cancer risk reduction. Qual Health Res. 2010; 21(4):502-19. PMC: 4880460. DOI: 10.1177/1049732310387798. View

Senior V, Smith J, Michie S, Marteau T . Making sense of risk: an interpretative phenomenological analysis of vulnerability to heart disease. J Health Psychol. 2011; 7(2):157-68. DOI: 10.1177/1359105302007002455. View

Broadstock M, Michie S, Marteau T . Psychological consequences of predictive genetic testing: a systematic review. Eur J Hum Genet. 2000; 8(10):731-8. DOI: 10.1038/sj.ejhg.5200532. View

Michie S, Weinman J, Miller J, Collins V, Halliday J, Marteau T . Predictive genetic testing: high risk expectations in the face of low risk information. J Behav Med. 2002; 25(1):33-50. DOI: 10.1023/a:1013537701374. View

10.

Stoate H . Can health screening damage your health?. J R Coll Gen Pract. 1989; 39(322):193-5. PMC: 1712014. View

11.

Heshka J, Palleschi C, Howley H, Wilson B, Wells P . A systematic review of perceived risks, psychological and behavioral impacts of genetic testing. Genet Med. 2008; 10(1):19-32. DOI: 10.1097/GIM.0b013e31815f524f. View

12.

Levine J . Are patients in favour of general health screening?. J R Soc Med. 1991; 84(5):280-3. PMC: 1293226. DOI: 10.1177/014107689108400512. View

13.

Hellmann E, Leslie N, Moll S . Knowledge and educational needs of individuals with the factor V Leiden mutation. J Thromb Haemost. 2003; 1(11):2335-9. DOI: 10.1046/j.1538-7836.2003.00448.x. View

14.

Shaw C, Abrams K, Marteau T . Psychological impact of predicting individuals' risks of illness: a systematic review. Soc Sci Med. 1999; 49(12):1571-98. DOI: 10.1016/s0277-9536(99)00244-0. View

15.

Saukko P, Ellard S, Richards S, Shepherd M, Campbell J . Patients' understanding of genetic susceptibility testing in mainstream medicine: qualitative study on thrombophilia. BMC Health Serv Res. 2007; 7:82. PMC: 1906766. DOI: 10.1186/1472-6963-7-82. View

16.

Graffigna G, Olson K . The ineffable disease: exploring young people's discourses about HIV/AIDS in Alberta, Canada. Qual Health Res. 2009; 19(6):790-801. DOI: 10.1177/1049732309335393. View

17.

Eichinger S . Consequences of thrombophilia screening for life quality in women before prescription of oral contraceptives and family members of VTE patients. Hamostaseologie. 2009; 29(1):110-1. View

18.

Goodman D, Morrissey S, Graham D, Bossingham D . Illness representations of systemic lupus erythematosus. Qual Health Res. 2005; 15(5):606-19. DOI: 10.1177/1049732305275167. View

19.

Constans J, Boulon C, Solanilla A, Conri C . [Therapeutic consequences of thrombophilic testing]. Rev Med Interne. 2008; 29(6):486-90. DOI: 10.1016/j.revmed.2008.02.003. View

20.

Almqvist E, Brinkman R, Wiggins S, Hayden M . Psychological consequences and predictors of adverse events in the first 5 years after predictive testing for Huntington's disease. Clin Genet. 2003; 64(4):300-9. DOI: 10.1034/j.1399-0004.2003.00157.x. View