Recommendations for Telephone Counseling.

Telephone counseling can provide a convenient, accessible, and valuable source of information to the general public, health care providers, and other professionals. In the genetic counseling profession, telephone counseling is often associated with teratogen information services. However, genetic counselors routinely utilize the telephone in a number of different counseling encounters. Nevertheless, the literature provides very little guidance to how that encounter might be conducted, what information should be obtained and provided, or how the encounter should be documented. We present a brief overview of the history of telephone counseling, a description of the major differences between telephone counseling and a face-to-face counseling session, and a framework to optimize a telephone counseling session.

Perception of genetic risk among genetic counselors.

A mailed survey of female prenatal genetic counselors, obstetric nurses, and high school biology teachers was conducted to determine if these groups hold different attitudes toward genetic risk and to investigate the extent to which any differences result from the effect of different professional experiences. In this study, the participants were 166 genetic counselors, 116 obstetric nurses, and 78 biology teachers (n=360). Survey participants completed a written questionnaire designed to assess their numeric estimate of the empiric risk for birth defects/genetic problems, their subjective perception of this risk, and their personal use of prenatal diagnosis. Genetic counselors were found to be less likely than the other groups to consider the frequency of birth defects/genetic problems as rare and were 10 times more likely than nurses and 8 times more likely than teachers to have had prenatal diagnosis. Furthermore, more than half of the prenatal diagnosis procedures had by genetic counselors were not medically indicated. These results suggest that genetic counselors have an increased perception of genetic risks relative to nurses or teachers. Possible explanations for this funding are discussed, and the potential role of discordant risk perception in creating biases in genetic counseling process is explored.

Effects of castration on plasminogen activator activities and plasminogen activator inhibitor type 1 in the rat ventral prostate.

The involution of the prostate gland after castration is an active process which requires the induction of new proteins. The plasminogen activator urokinase has been proposed to be a gene repressed by androgen which is activated upon castration and thus participating in the atrophy of the gland. However, urokinase is secreted by the ventral lobe of the rat prostate and this should be positively affected by androgens. The purpose of this study was to examine further the effects of castration upon plasminogen activator (PA) activities in the rat prostate and to determine possible explanations to this apparent dilemma. Castration of young sexually mature adult rats resulted in a substantial increase in PA activities at 4 days after castration in the ventral prostate, but then the activities returned to within the range of untreated animals with a longer duration of castration. Urokinase was the predominant molecular form of PA in the normal ventral prostate and it was the molecular form increased after castration; based upon its sensitivity to amiloride and its molecular size determined in zymograms. In contrast to the effect of castration, there was no increase in PA activities in the ventral prostate with treatment of rats with the antiandrogen flutamide, but rather a decrease when specific activity was expressed per unit DNA. In addition, the effect of castration was specific for the ventral lobe for there was no change in the PA activity in the dorsolateral prostate after androgen ablation. The diminished PA activities in the ventral prostates of rats castrated for 7 days or longer appeared to be due at least in part to an increase in plasminogen activator inhibitor type-1 (PAI-1). Immunoreactive PAI-1 was found predominantly in high molecular weight forms which indicates that the inhibitor was complexed with PA. Daily treatment of rats upon castration with agents known to retard the rate of regression of the involuting prostate gave dichotomous results. Hydrocortisone prevented the increase in PA activity, whereas treatment with actinomycin D, an inhibitor of RNA synthesis, not only did not prevent an increase in PA activity, but actually produced a superinduction in PA activity at 4 days orchiectomy. These data may be interpreted to mean that hydrocortisone stimulated PAI activity and that actinomycin D treatment blocked its induction. However, the actinomycin D data may also indicate that an increase in urokinase protein and mRNA after castration may result from some mechanism to conserve these molecules suggesting that this inhibitor of RNA synthesis prevented the transcription of messages for proteins involved in the degradation of urokinase message.

An assessment of teratology training provided by masters level genetic counseling programs.

The increasing demand in the clinical genetics setting for information about teratogen exposures has created a need for genetic counselors to have the capabilities to appropriately address patient concerns. In order to assess how training in teratogen counseling is currently being conducted, the GLaRGG Teratogen Subcommittee surveyed all 17 genetic counseling training programs in North America in September 1993. Information was obtained from training programs about coursework, resources, and clinical training. In addition, each training program was asked to provide information about how their teratogen training needs could better be met. While all programs responded that some information in their coursework applicable to teratogen counseling was provided, there was wide variation in the amount of time devoted to this topic. The programs also greatly differed in the provision of clinical training in teratogen counseling. For both coursework and clinical work, genetic counselors were the main trainers in teratogen counseling. In spite of this, fewer than 25% of training programs have a defined teratogen clinical rotation. Data from the survey are discussed and recommendations presented.

Evaluation of the effectiveness of a teratogen information service: a survey of patient and professional satisfaction.

We have evaluated the effectiveness of the Wisconsin Teratogen Project (WTP), a teratogen information service, using two retrospective surveys. We surveyed medical professionals who utilized the WTP and patients who had received teratogen counseling in a clinic setting. The results from the medical professional survey indicated that medical professionals rely on the WTP for accurate and convenient teratogen information. A tendency to rely on the Physician's Desk Reference as an alternative resource was noted, reinforcing the need to encourage professionals to use teratogen information service projects. Major findings and conclusions from the patient survey included: patients found counseling to be most helpful if, whenever possible, numeric risks were provided; recommendations made in the absence of known risk were not considered by patients to be helpful for providing reassurance; overall compliance with recommendations was high but behavioral recommendations seemed to reduce reassurance and increase dissatisfaction with the service for some patients; and pregnant women exposed to low-dose ionizing radiation were more likely to have considered termination of pregnancy prior to referral but were not more likely to terminate following counseling. Our findings suggest that although the WTP is considered an effective service overall, teratogen counselors should give special consideration to patient and counseling characteristics as these can significantly influence the perception of the risk counseling provided. Particular attention should be given to patients with low-dose ionizing radiation exposure, since misperception of its teratogenic risk is extremely common.

Absence of predictable phenotypic expression in proximal 15q duplications.

We describe ten individuals with an insertional duplication 15q12----q13. Phenotypic analysis of these individuals and 15 previously reported cases of proximal 15q duplications fails to show any consistent clinical manifestations. It appears that a duplication of this region is phenotypically silent.