Beth A. Fine

Cytogenetic results of chorionic villus sampling: high success rate and diagnostic accuracy in the United States collaborative study.

Cytogenetic results of first-trimester chorionic villus sampling are reported from seven U.S. medical centers. For 6033 patients who had a successful chorionic villus sampling procedure, the rate for obtaining a cytogenetic diagnosis was 99.6% with the direct method, long-term culture, or both. There were no incorrect sex predictions and no diagnostic errors involving trisomies 21, 18, or 13, sex chromosome aneuploidies, or structural abnormalities. There were no cases of normal cytogenetic diagnosis followed by birth of a cytogenetically abnormal infant. Three cases of unusual aneuploidies (tetraploidy, trisomy 16, and trisomy 22) detected by the direct method only were not confirmed by cytogenetic follow-up. Mosaic cytogenetic abnormalities were observed in 0.83% of all cases in which chorionic villus sampling was done but were confirmed by amniocentesis or in fetal tissues in only 7 of 30 cases (23.3%). Maternal cell contamination occurred in 1.9% of long-term cultures, although this did not present any cytogenetic diagnostic difficulties. Overall, a very high degree of laboratory success and diagnostic accuracy was observed with either cytogenetic method, although fewer predictive errors were observed with the long-term culture method and none were observed when both methods were used.

Practice-based competencies for accreditation of and training in graduate programs in genetic counseling.

In January 1996, the American Board of Genetic Counseling (ABGC) adopted 27 practice-based competencies as a standard for assessing the training of graduate students in genetic counseling. These competencies were identified and refined through a collective, narrative process that took place from January through November 1994, and included directors of graduate programs in genetic counseling, ABGC board members and expert consultants. These competencies now form the basis of the document “Requirements for Graduate Programs in Genetic Counseling Seeking Accreditation by the American Board of Genetic Counseling” (American Board of Genetic Counseling, 1996). The competencies are organized into four domains and are presented and discussed in this article.

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 counselees 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.

An Assessment of Ethnocultural Beliefs Regarding the Causes of Birth Defects and Genetic Disorders

With the expansion of genetic services to various cultural groups, genetic counselors encounter clients who hold diverse beliefs inscribed by their culture about health conditions. Thus, clients may attribute the cause of a birth defect or genetic condition to a culturally-based health belief. This present study was conducted as a pilot study in order to assess the beliefs about the causes of birth defects and genetic disorders held by women of different ethnocultural backgrounds. This study proposed that women who do not have a family history of a disorder will differ in their knowledge about the cause of a birth defect or genetic disorder compared to women who have an affected child. In addition, this study determined to what extent culturally-based health beliefs are attributed to being the cause of a birth defect or genetic disorder in the 1990s.

A case-based approach to the development of practice-based competencies for accreditation of and training in graduate programs in genetic counseling.

The American Board of Genetic Counseling (ABGC) sponsored a consensus development conference with participation from directors of graduate programs in genetic counseling, board members, and expert consultants. Using a collective, narrative, and case-based approach, 27 competencies were identified as embedded in the practice of genetic counseling. These competencies were organized into four domains of skills: Communication; Critical Thinking; Interpersonal, Counseling, and Psychosocial Assessment; and Professional Ethics and Values. The adoption of a competency framework for accreditation has a variety of implications for curriculum design and implementation. We report here the process by which a set of practice-based genetic counseling competencies have been derived; and in an accompanying article, the competencies themselves are provided. We also discuss the application of the competencies to graduate program accreditation as well as some of the implications competency-based standards may have for education and the genetic counseling profession. These guidelines may also serve as a basis for the continuing education of practicing genetic counselors and a performance evaluation tool in the workplace.

Pre-screening education in multiple marker screening programs: The effect on patient anxiety and knowledge

Previous studies have shown that unexplained deviations in maternal serum multiple marker screening (MMS) generate considerable anxiety during the remainder of pregnancy. While the role of education in decreasing anxiety is documented, to date there has been no prospective evaluation of which educational practices might minimize this emotional stress. In a pilot study, we prospectively examined the effects on anxiety and knowledge by providing information about MMS (1) by genetic counselor, (2) by pamphlet, and (3) by primary physician. Women randomized to one of these three modalities were administered the Spielberger State- Trait Anxiety Inventory [STAI] and knowledge questionnaires at their initial obstetrics visit, at their second visit after educational intervention and 1–2 weeks after MMS results were provided to patients. Education resulted in an increase in knowledge and post-education knowledge was different between educational modalities. Anxiety declined in patients educated through genetic counseling or a pamphlet.

Normative Scores and Factor Structure of the Profile of Mood States for Women Seeking Prenatal Diagnosis for Advanced Maternal Age

A large sample of pregnant women (n = 705) was given the monopolar version of the Profile of Mood States (POMS) upon being counseled for prenatal diagnosis with the indication of advanced maternal age. Raw POMS scores were converted to standardized scores to develop relevant norms for the assessment of mood in these and other pregnant women who are demographically and obstetrically comparable. Vigor and Fatigue scores for this sample were similar to those published as norms for female psychiatric outpatients. Scores on all other POMS subscales Copyright (c)) 1990 Educational and Psychological Measurement, Inc. indicated low levels of mood disturbance. A factor analysis revealed seven correlated factors interpreted as (a) Depression, (b) Vigor, (c) Sociability, (d) Being Relaxed-Unafraid, (e) Not Being Angry or Irritable, (f) Negative Regard for Self and Others, and (g) Being Distracted. Differences between the presently obtained factor structure and the structures reported in the POMS manual are discussed.

Training Genetic Counselors to provide teratogen counseling.

Provision of teratogen counseling requires acquisition of knowledge and skills from several disciplines. Traditionally, training in teratogen counseling has occurred “on the job.” We describe a formal, didactic and experiential curriculum for teratogen counseling as an integral part of the Graduate Program in Genetic Counseling leading to the master of science degree at Northwestern University. All students complete a 5-week rotation with the Coordinator of the Illinois Teratogen Information Service (TIS). This provides them with an opportunity to evaluate a spectrum of teratogen exposures, to interpret teratogen studies in a manner useful for patients, and to develop skills in assessing and addressing psychosocial issues associated with fetal exposure to potential teratogens. Students also learn first hand about how a TIS functions and when and how to refer to TIS specialists. The goal of the program is to provide genetic counseling students with the opportunity to gain experience in accessing and interpreting teratology research and in communicating teratogen information to patients and health professionals in a sensitive, effective manner.

Demographic Studies from a National Gaucher Disease Screening Program

In May 1993, the National Gaucher Foundation initiated a nationwide Gaucher disease screening program in an attempt to promote recognition of the disease and to detect previously undiagnosed individuals. The program was based on self-selection by clinical symptoms of individuals who wanted to be tested for Gaucher disease. Information about symptoms, age, ancestry, gender, and family history was obtained via a self-report screening form completed by 700 individuals. Individuals designated at “high risk” for Gaucher disease were offered beta-glucocerebrosidase enzyme assay testing. Twenty-four of the respondents (3.4%) had Gaucher disease. The most commonly reported symptoms were fatigue (79.4%), bone pain (73.7%), and tendency to bruise (67.8%). The symptoms which showed a statistical difference between the “high risk” and “low risk” groups were liver enlargement (p < 0.005) and unexplained bone fractures (p < 0.03). The mean number of positive symptoms also showed a statistical difference between the groups (4.38 symptoms vs. 3.86 symptoms; p < 0.02). Due to the small sample size, no statistical comparisons were made on the symptomatology of affected vs. unaffected persons, but a descriptive analysis of these two groups is reported.

Genetic counseling and women.

T he practice and profession of genetic counseling, still in its youth, has matured and developed during the past quarter century in response to technological, psychological, societal, economic, and cultural factors. Concerns regarding the ethical, legal, and social implications (ELSI) of the Human Genome Project (HGP) have been articulated in the professional literature and the popular press. Research and educational programs designed to address these concerns in order to anticipate and prevent negative ramifications of genome research for individuals and society have taken a variety of forms. A priority of the ELSI program is to address the effect of the massive amount of new genetic information and related technologies on mainstream medical practice, particularly for clinical genetics and primary care.l Although many scholars and practitioners have stated that the HGP does not raise new ethical issues or dilemmas, the magnitude of the clinical and societal applications of the scientific and technologic discoveries are bringing these to light in a more extensive manner. * Philosophical exploration of the practice of genetic counseling in light of new technologies has fostered a fresh look at the counseling process, practice standards, and service delivery with an emphasis on gender issues and women’s roles.3 Therefore, in this article, I discuss some basic assumptions about genetic counseling and points to consider vis-a-vis the work of Carol Gilligan on women’s psychologic theory and a care-based ethic4