The utilization of genetic counselors within a newborn screening program

Genetic counselors have participated in the Michigan Newborn Screening Program on a contractual basis since 1988. Their role includes newborn screening education and training, newborn nursery site visits, and monitoring newborn screening in hospitals. Their impact has been to improve the quality of newborn screening services by reducing errors and increasing completion of data fields on newborn screening cards, improving hospital nursery cooperation and problem solving, and enhancing health department response to specific problems.     

A brief neuropsychological screening battery to detect brain damage in a psychiatric population

Seventy-five patients admitted to the psychiatric unit of a general hospital were administered a brief neuropsychological screening battery. Discharge diagnoses obtained from the medical records revealed that 20% had brainbased pathology. A discriminant function analysis resulted in a five-variable model (Symbol-Digit Modalities Test, educational level, Psychiatric-Organic subscale of the MMPI, and Shipley Vocabulary and Abstraction scores) which correctly classified 84% of the subjects, with 87% correct identification of the brain-damaged group. A jackknife cross-validation procedure resulted in comparable hit rates.     

TESTICULAR SELF-EXAMINATION: VALIDATION OF A TRAINING STRATEGY FOR EARLY CANCER DETECTION

Testicular self-examination (TSE) can lead to early diagnosis and treatment of testicular cancer, the third leading cause of death in young men. We evaluated the effectiveness of a brief and specific checklist for teaching TSE skills. Ten men were videotaped while performing testicular self-examinations before and after training. The TSE training resulted in large and significant increases in the number of TSE steps completed and duration of the TSE. Two urological validation measures supported the improvements observed in the mens' self-examinations. Subjects reported continued performance of TSE during a follow-up telephone interview. This pilot study indicates that a brief and specific checklist is an effective strategy for teaching early cancer detection skills.     

A survey of reimbursement for cystic fibrosis carrier testing

To assess the current status of reimbursement for cystic fibrosis (CF) carrier testing, we surveyed individuals tested in the Mid-Atlantic region. Results show that CF testing was covered by insurance in part or in full for greater than 50% of respondents. The test was nearly always covered when performed during pregnancy because of a positive family history, but it was also covered for more than 50% of pregnant respondents with a negative family history. There were no significant differences in coverage by type of insurance. Many respondents needed to supply additional information about the testing to their insurance company before a coverage decision could be made. Before population-based CF screening programs are initiated, more data are needed on insurance reimbursement for testing, especially when performed pre-conceptually.     

Whose Gene Is It? A Case Discussion About Familial Conflict over Genetic Testing for Breast Cancer

A multidisciplinary group of genetic and other professionals discuss a complex case of familial conflict over access to genetic information. One twin wishes to know the results of her deceased mother's tests for BRCA1 mutations; a second twin objects to researchers making this information available. As the case discussion unfolds, the apparent facts of this case are called into question and the lines of ethical certainty become less clear.     

Knowledge of Breast Cancer Genetics Among Breast Cancer Patients and First-Degree Relatives of Affected Individuals

The cloning of BRCA1, a susceptibility gene for inherited breast cancer, has made genetic screening possible for individuals and families whose medical histories are suggestive of an inherited predisposition to breast cancer. To date, few systematic attempts have been made to determine the level of knowledge about breast cancer genetics among women who are likely to seek BRCA1 screening when it becomes widely available. The present study attempted to assess the general knowledge about BRCA1 mutations in two groups: (1) first-degree relatives (FDRs) of breast cancer patients; and (2) women with a previous diagnosis of breast cancer. A self-administered, thirty-item questionnaire was developed through a pilot study. Ten of the items were objective, factual questions about breast cancer genetics. Responses to these questions were used to generate an overall knowledge score for each respondent. The study population was moderately knowledgeable about breast cancer genetics, with an average score of 5.35 out of 10. Counselors should not underestimate the importance of evaluating each counselee's existing knowledge about breast cancer, which can affect the provision and reception of genetic information. In particular, specific areas of knowledge that may be confusing or misunderstood were identified and these topics are discussed in detail.     

The Development of the Toddler Behavior Screening Inventory

The purpose of the present study was to develop the Toddler Behavior Screening Inventory (TBSI) for rapidly assessing maternal reports of toddler behavior problems. The TBSI is a 40-item measure intended for use by pediatricians, psychologists, and other child-care professionals. A group of mothers (n = 312) rated the initial 93-item TBSI in terms of behavior frequency and parental perception of the behavior as problematic. Following item elimination, 40 items were retained due to being both frequent and problematic at all toddler age levels. Data were obtained with a new sample of mothers (n = 581) and showed the TBSI to possess good reliability and validity.     

The specific action of different personality risk factors on cancer of the breast, cervix, corpus uteri and other types of cancer: A prospective investigation

We report the results of a prospective study of a random sample of 1353 elderly but healthy men and women who were followed up for a period of 10 yr, when mortality and cause of death were ascertained. Overall results have been reported elsewhere for mortality from cancer, coronary heart disease and other causes; here we are concerned with the personality factors predicting breast cancer, cervical cancer, cancer of the corpus uteri specifically, as well as other types of cancer in women. Ten specific hypotheses were tested, using specially constructed questionnaires for the purpose, and for most of these statistically significant support was obtained. The results justify belief that specific types of cancer may be related to specific stress/personality factors.     

An empirical study of the diathesis-stress theory of disease

One thousand, one hundred and twenty-one Jewish concentration camp survivors were compared with 367 Jewish controls who had not been in a concentration camp, and had not lost any family members in such a camp. Of interest was the mortality of camp and comparison groups, on the hypothesis that the stress of being in a camp would adversely affect inmates. It was found that former camp inmates were over twice as likely to die of cancer, coronary heart diesease, or other causes as the comparison subjects of similar age and sex composition, and that severity of stress was correlated with mortality in the expected direction. Diathesis, determined by means of a special interviewer-administrated questionnaire, was found to interact synergistically with stress in producing high mortality.     

Group climate in an open-ended cancer support group

A number of well-described, controlled studies assessing cancer support group intervention support their effectiveness. All of these experimental groups have been close-ended and typically involve six to eight weekly sessions. Because many cancer patients are unable or unwilling to participate in closed, extended-session groups, there is particular need for analysis of the effectiveness of short-term, open-ended groups. Additionally, objective measures are needed to delineate the factors contributing to a successful outcome in cancer support groups. We used the Short Form of the Group Climate Questionnaire (GCQ-S) to characterize 23 sessions in an open-ended, short-term, Veterans Hospital based cancer support group. The cancer group scored significantly lower on the Avoiding and Conflict dimensions (p<.001) compared to a normative psychotherapy group sample. There was no difference on the Engaged dimension. This pilot study suggests that a cancer support group in this setting can create an environment where members are cohesive and take responsibility for their own change process, while keeping interpersonal conflict to a minimum. Based on these preliminary findings, we encourage controlled clinical trials examining the efficacy of open-ended cancer support groups.At the time of this study, Dr. Daroff was a resident in Psychiatry, University of California, San Francisco.