Evaluation of genetic counselling: recall of information, post‐counselling reproduction, and attitude of the counsellees

Abstract

Of the families who had received genetic counselling between 1972 and 1981, 791 replied to a questionnaire which covered recall of information, post‐counselling reproduction and attitudes towards counselling and prenatal diagnosis. Eighty percent had adequate knowledge of mode of inheritance and 74% of recurrence risk. Knowledge of mode of inheritance was poorest in multifactorial transmission (63%) and knowledge of recurrence risk in X‐chromosomal disorders (61%). Forty‐five per cent of the families had started a pregnancy after the counselling. The variation was between 57% (risk –<5%) and 31% (risk >25%). Early lethality of the disorder and feasibility of a prenatal study contributed to positive reproductive decisions. Nine per cent of the children born after the counselling were affected by the disorder in question. The observed risks tended to match well with the expected ones. Sixty‐two per cent of the respondents felt that the counselling had had a great or moderate impact on their reproductive plans. Forty‐two per cent expressed a wish to hear the counsellor's opinion in addition to the facts. This was more common when the disorder was severe. Although most couples (53%) wished to have a prenatal study, if feasible, and abort an affected foetus, 16% were against abortion in such a case and 31% wished to have the study but were ambiguous about an abortion.

Permanence of the information given during oncogenetic counseling to persons at familial risk of breast/ovarian and/or colon cancer

“…The mean value of our scores stands at 7.28 of 10, meaning 73% of the information is rather well recalled. This tallies with Michie's statistics 10 (76%) and Somer's ones 15 (65–86%) but diverges from DiCastro 13 (30–62%) and Bober 12 (10–50%). This discrepancy may arise from the type of knowledge investigated.…”

“…10, 11, 12 In two others, 13, 14 the delay was longer (1–5 years after consultation) and targeted women at breast/ovarian cancer risk, but studied information was limited to individual and offspring cancer risk, heredity likelihood and/or early detection schemes: the persistance of information was found to be poor and depended on the mutational status of recipients. The survey of Somer et al 15 was the oldest one (1988): it tested a large sample of counselees ( N =791) but the matter of interest was the consequences of the diagnosis on attitudes toward reproduction, prenatal study and abortion, and did not focus on genetic mutations related to long-term cancer predispositions. Concerning the retention of information, these authors concluded that most of the essential facts were correctly recalled and no significant decrease in time could be noticed.…”

Reproductive planning after genetic counselling: a perspective from the last decade

“…Furthermore, when the genetic risk in studies of various disorders was split at other levels, the magnitude of the genetic risk was not directly related to reproductive planning (Bocsknov 1979, Czeizel et al 1981, Steele et al 1986, Somer et al 1988.…”

“…The major importance of the perceived burden of the disorder for reproductive planning has frequently been shown (Sorenson et al 1987, Boscknov 1979, Lippman-Hand & Fraser 197913, Emery et al 1979, Somer et al 1988, Frets et al 1990a). The burden of the presence of a child with Down's syndrome was one of the reasons not to have more children (Black 1979, Evers-Kiebooms et al 1980& 1984, Springer & Steele 1980.…”

Cornelia de Lange syndrome: Parental preferences regarding the provision of medical information

“…Since this was a retrospective study it could be argued that parents failed to recall of information given. However, similar studies of parents did not find an effect of time elapsed since diagnosis on recall of information discussed [Somer et al, 1988].…”