Social aspects of genetic testing for factor V Leiden mutation in healthy individuals and their importance for daily practice.

To explore social aspects of asymptomatic carriership of factor V Leiden mutation (FVL) and how carriers have experienced procedure of screening for FVL, we have performed a qualitative study using semi-structured interviews. Seventeen carriers of FVL without history of venous thromboembolism (VTE) were interviewed. Carriership of FVL has the potential to influence daily life by inducing concerns, stigmatisation and problems with insurances. Furthermore, proper procedure of screening is important because carriers have many questions concerning progeny, risk factors for VTE and preventive measures. Both health worker and the individual to be screened for FVL need to be fully aware of the possible consequences of screening and the fact that proper screening comprises more than only the collection of a blood sample or explaining the amount of risk for VTE induced by a genetic defect. Any guideline to be developed for the screening for FVL should take this into account too.

[1]  B. Kinder.  Genetic and Biochemical Screening for Endocrine Disease: II. Ethical Issues , 1998, World Journal of Surgery.

[2]  R. Croyle.  Psychosocial effects of screening for disease prevention and detection , 1995 .

[3]  J. Vandenbroucke,et al.  Mortality and causes of death in families with the factor V Leiden mutation (resistance to activated protein C). , 1997, Blood.

[4]  R. Lefebvre,et al.  Counseling strategies for blood cholesterol screening programs: recommendations for practice. , 1990, Patient education and counseling.

[5]  O. Clark,et al.  Genetic and Biochemical Screening for Endocrine Disease , 1998, World Journal of Surgery.

[6]  C. Pope,et al.  Qualitative Research in Health Care , 1999 .

[7]  V F Reyna,et al.  Accuracy and ambiguity in counseling patients about genetic risk. , 2001, Archives of internal medicine.

[8]  C. Kozma,et al.  Genetic Discrimination: Perspectives of Consumers , 1996, Science.

[9]  J. Sorenson,et al.  Clients' interpretation of risks provided in genetic counseling. , 1986, American journal of human genetics.

[10]  M. Prins,et al.  A Prospective Study of Asymptomatic Carriers of the Factor V Leiden Mutation To Determine the Incidence of Venous Thromboembolism , 2001, Annals of Internal Medicine.

[11]  R. M. Schmidt,et al.  Stigmatization of carrier status: social implications of heterozygote genetic screening programs. , 1978, American journal of public health.

[12]  P. Prandoni,et al.  Incidence of venous thromboembolism in asymptomatic family members who are carriers of factor V Leiden: a prospective cohort study. , 2002, Blood.

[13]  Corlien M. Varkevisser,et al.  Applied Health Research-Manual: Anthropology of Health and Health Care , 2005 .

[14]  Linda S. Lotto.  Qualitative Data Analysis: A Sourcebook of New Methods , 1986 .

[15]  P. J. Marang-van de Mheen,et al.  Getting insurance after genetic screening on familial hypercholesterolaemia; the need to educate both insurers and the public to increase adherence to national guidelines in the Netherlands , 2002, Journal of epidemiology and community health.

[16]  R. Croyle,et al.  Psychologic aspects of cancer genetic testing , 1997, Cancer.

[17]  Trisha Greenhalgh,et al.  How to read a paper: Papers that go beyond numbers (qualitative research) , 1997 .

[18]  M. Prins,et al.  The Incidence of Venous Thromboembolism in Family Members of Patients with Factor V Leiden Mutation and Venous Thrombosis , 1998, Annals of Internal Medicine.

[19]  M R Natowicz,et al.  Genetic discrimination and the law. , 1992, American journal of human genetics.

[20]  M R Natowicz,et al.  Discrimination as a consequence of genetic testing. , 1992, American journal of human genetics.

[21]  R. Croyle,et al.  The new genetics: Psychological responses to genetic testing , 1998 .