Abstract
127 patients with hemophilia A were asked to assist in recruiting at risk female relatives for a study to assess their knowledge and attitudes regarding carrier testing. Of these 21(17%) agreed to complete a questionnaire and 66 (52%) agreed to participate by 1) supplying a blood sample for DNA analysis, 2) completing a questionnaire, 3) providing family history and 4) contacting at risk female relatives to inform them about the study. Of the 87 patients who completed the questionnaire 58% had previously received information about the inheritance of hemophilia. 71% believed they had an obligation to inform at risk relatives, 81% thought that carrier testing was important and 58% had discussed carrier testing with relatives in the past. 88% did not think that being asked to contact relatives was an invasion of privacy. 65 patients were tested and a mutation was identified in 50 (77%). 34 provided contact information for some or all of their 341 potentially eligible relatives. 79 (23%) of the relatives declined, 37(11%) could or would not be contacted by the patient, 62 (18%) were excluded because they did not meet study deadlines and 163 (48%) agreed to be contacted by the research team. We contacted 162 at risk relatives. 5(3%) were ineligible, 13(8%) declined all participation, 26(l6%) declined testing but agreed to be interviewed, and 113(70%) agreed to have counseling, testing, and complete at least one interview. Of the 5 (3%) obligate carriers, 1 agreed to be interviewed. A total of 140 women completed one or more interviews. 90% had not previously received genetic counseling, 62% had not previously been tested, and 52% thought their chance of carrying a hemophilia gene was extremely low or low. 87% were interested in knowing about carrier testing. 42% reported having a “close” relationship with their affected relative. 98% did not think that our asking their relative with hemophilia to contact them was an invasion of privacy. Of 115 who visited a doctor within the past year, 87% did not specifically discuss their possible carrier status. Data on individuals participating in this ongoing NHGRI funded study suggest: 1) patients contacting relatives about carrier testing is not viewed as an invasion of privacy, 2) most patients think carrier testing is important and have discussed testing with relatives, and 3) although relatives prefer to know about testing, most had not discussed testing with their physician within the last year nor had they had genetic counseling. The significance of these data on research participation and possible implications for clinical practice will be discussed.
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Callanan, N., Jennings-Grant, T., Lakon, C. et al. Knowledge and attitudes about carrier testing for hemophilia A among patients and their relatives. Genet Med 2, 76 (2000). https://doi.org/10.1097/00125817-200001000-00088
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DOI: https://doi.org/10.1097/00125817-200001000-00088