title: Conflicts regarding genetic counseling for fragile X syndrome screening: a survey of clinical geneticists and genetic counselors in Israel.
abstract: Although fragile X screening has been offered in Israel since 1994, issues related to potential neurological and gynecological symptoms in carriers make counseling for fragile X different from recessive disorders. We evaluated the attitudes of clinical geneticists and genetic counselors regarding genetic counseling given to the women undergoing screening. We performed a self-administered questionnaire including 13 study questions mailed to all clinical geneticists and genetic counselors in Israel. The questions were related to counseling for women pre- and post-screening regarding themselves and the affected fetuses (including the risk for premature ovarian insufficiency; FXPOI and fragile X-associated tremor ataxia syndrome; FXTAS). Out of a total of 80 clinical geneticists and genetic counselors, 34 responded with no additional responses on e-mail re-call. There was no clear consensus for 11/13 (85%) presented questions. The most striking differences in opinion were observed for issues regarding FXTAS risk in pre-screening counseling sessions (P < 0.05). This study demonstrates that, there is no consensus on critical variables implying risk for fetus and mother and that counseling practices are dissimilar even in this small cohort of experts. We demonstrated a conflict between the detailed amount of information, which should be given prior to the test in order to allow informed decisions and the overload of information, which may cause confusion.
authors.affiliation: Medical Genetics Institute, Shaare Zedek Medical Center, Jerusalem, Israel.
authors.forename: Sari
authors.initials: S
authors.lastname: Lieberman
authors.forename: Shachar
authors.initials: S
authors.lastname: Zuckerman
authors.forename: Ephrat
authors.initials: E
authors.lastname: Levy-Lahad
authors.forename: Gheona
authors.initials: G
authors.lastname: Altarescu
mesh_terms: D001291:Attitude of Health Personnel; D015331:Cohort Studies; D003625:Data Collection; D005260:Female; D005600:Fragile X Syndrome / Q000175:diagnosis* / Q000235:genetics*; D005817:Genetic Counseling; D005820:Genetic Testing; D006801:Humans; D007557:Israel; D008297:Male; D010353:Patient Education as Topic; D011247:Pregnancy; D011248:Pregnancy Complications; D011296:Prenatal Diagnosis; D011795:Surveys and Questionnaires