Nancy P. Callanan

An explication of the National Society of Genetic Counselors (NSGC) code of ethics

This article reviews the work carried out by the NSGC ad hoc Committee on Ethical Codes and Principles between 1986 and 1991 and serves as a guide for interpreting the NSGC Code of Ethics. The NSGC Code of Ethics is written from the “ethic of care” perspective. It is based on the responsibilities that arise from the four primary relationships genetic counselors experience in their work: genetic counselors and themselves, their clients, their colleagues, and society. The values selected for each relationship and the resultant guidelines are explained. The Code of Ethics became effective January 1, 1992.

Molecular characterisation of chromosome 4p deletions resulting in Wolf-Hirschhorn syndrome.

We present three patients with Wolf-Hirschhorn syndrome with small cytogenetic deletions of 4p16. One case is a de novo translocation and two cases represent de novo deletions. Using molecular techniques we determined the extent of these deletions and attempted to ascertain parental origin. Case 1 had a deletion of 4p16.3 with a breakpoint proximal to D4S10, case 2 had a larger deletion including D4S62 in 4p16.2, and case 3 had the largest deletion which included D4S240, but not the Raf2 locus in 4p16.1. The parental origin of the deletion in case 3 was paternal; the other two cases were indeterminable. Our results show that these three deletions include the currently proposed Wolf-Hirschhorn syndrome critical region within the most distal 2 Mb of 4p16.3 and offer supportive evidence for continuous terminal deletions.

CF Carrier Testing in a High Risk Population: Anxiety, Risk Perceptions, and Reproductive Plans of Carrier by "Non-Carrier" Couples

Purpose: The risk perceptions, psychological status and reproductive plans of 52 carrier by “noncarrier” (mutation screen negative) couples is the subject of this report.Methods: Cystic fibrosis (CF) carrier testing was offered to relatives of individuals with CF.Results: In this population testing was not associated with any significant adverse psychological effects, reproductive uncertainty, or inaccurate risk perceptions.Conclusions: The results of this study have important implications in light of the recent NIH CF Consensus Panel recommendations that CF carrier testing be offered to all high risk adults and all couples planning a pregnancy or seeking prenatal testing.

Psychosocial and educational outcomes associated with home- and clinic-based pretest education and cystic fibrosis carrier testing among a population of at-risk relatives

We report on the psychosocial and knowledge outcomes of two different approaches to cystic fibrosis (CF) gene pretest education and carrier testing offered to 288 proactively recruited first-, second-, and third-degree relatives of people with CF. One group received pretest education and gene testing in a clinical setting from a certified genetic counselor. The other group received pretest education in their homes from a specially prepared pamphlet and were asked to send in a buccal cell sample for genotyping. No statistically significant differences between groups were noted on measures of CF knowledge, anxiety, and positive or negative affect, either while waiting for their test results or within a few weeks after they had learned their results. At both measurement points, participants who had received home education and testing reported that the testing was more convenient, but that they had received less information than they would have liked, and they were more likely to report being confused by the testing, although their level of CF knowledge was comparable to that of people who had been seen by a genetic counselor. In light of the increasing interest in home-based medical testing of all kinds, this study suggests that CF carrier testing in the home warrants further consideration as one possible approach to facilitating access to testing.

Prenatal exposure to disulfiram implicated in the cause of malformations in discordant monozygotic twins

Female monozygotic (MZ) twins were discordant for congenital structural anomalies: Twin A had a reduction defect of the right forearm; Twin B had a cleft palate. Both infants were small for gestational age. Specific prenatal exposures were identified at different times in the first trimester of pregnancy: crack cocaine, marijuana, disulfiram, heavy ethanol exposure, and cigarettes. The mothers hospitalization in a drug abuse program and incarceration allowed for identification of exposure timing. The cleft palate could have been related to either disulfiram or alcohol exposure; the limb abnormality most likely corresponded to the timing of disulfiram exposure. Discordance of anomalies in these twins may reflect differences in developmental timing, differences in susceptibility to one or more teratogens, or random events occurring within very complex developmental programs, with the thresholds for malformation affected by one or multiple teratogenic compounds.

CF carrier testing: Experience of relatives

Consensus exists that genetic counseling and CF carrier testing should be offered to individuals with a positive family history of CF. To learn more about their experience with genetic counseling and testing we conducted a series of structured telephone interviews and focus group discussions with individuals and couples who had undergone genetic counseling and carrier testing because of a family history of CF. Traditional genetic counseling appears to have been effective for this population. Subjects generally report having a positive counseling experience and few difficulties upon learning their carrier status. Subjects were quite knowledgeable about CF and their carrier risk and were highly motivated to seek testing. They may not be representative of all individuals with a family history of CF however. For carriers, concerns about whether and when to have children tested, and concerns about insurance implications of carrier status may emerge sometime after the initial counseling. Strategies for addressing these concerns and for providing efficient and effective education and genetic counseling for people with a family history of CF need to be developed.

Guidelines for Book Users: Instructors, Supervisors, and Students

This chapter describes the philosophical and pedagogical base of the book, which is grounded in active-experiential and self-reflective learning; identifies common challenges in the development of basic helping skills by students, such as anxiety and difficulty integrating skills; and describes detailed strategies for teachers and supervisors to facilitate student learning of basic helping skills. Strategies include ways to organize and process experiential activities and manage feedback and evaluation (e.g., methods for facilitating small and large group discussions, conducting student role-plays, and consolidating student learning; guidelines for feedback and evaluation). Suggested activities are designed to promote learning by encouraging students to take risks within a supportive environment, continually reflect upon their experiences, and incorporate feedback into their genetic counseling practice. Most of the activities in this and subsequent chapters can be adapted by clinical supervisors for use with supervisees.

Providing Guidance: Advice and Influencing Skills

This chapter defines genetic counselor advice and influencing skills, differentiates between clinical recommendations and other types of advice, discusses the function of each skill, and provides concrete examples of different types of advice and different types of influencing responses. Consequences of advice (possible advantages and drawbacks) are discussed, and strategies for giving advice effectively are provided. Several advice-giving challenges are described (e.g., thinking that every patient will listen to and follow the counselor’s advice). Influencing responses are characterized either as counselor opinions that express agreement (encouragement) or as counselor opinions that express disagreement (provide a cautionary note) about the patient and/or topics relevant to genetic counseling processes and outcomes (e.g., the patient’s feelings, thoughts, attitudes, actions, situation, plans, etc.). Activities and written exercises facilitate student development of advice and influencing skills through self-reflection, practice, and feedback.

Collaborating with Patients: Providing Information and Facilitating Patient Decision-Making

Providing information and facilitating patient decision-making are two genetic counseling competencies that incorporate a set of skills which are fundamental to genetic counseling practice. This chapter describes skills and strategies needed to effectively provide information and communicate risk, identifies factors that impact risk perception (e.g., individual and cultural characteristics), and describes some of the major factors affecting patient decision-making (e.g., decision-making styles). Although the information (content) of any genetic counseling interaction varies depending on the indication or focus of the session and may change over time, the skills and strategies presented in this chapter are transferrable across all situations and specialty practice areas. Activities and written exercises in this chapter promote student self-reflection, practice, and feedback to help students develop skills for providing information (including risk communication and presenting genetic test results) and for facilitating patient decision-making.

Structuring Genetic Counseling Sessions: Initiating, Contracting, Ending, and Referral

Four of the components of a genetic counseling session are initiating the session, introductions and contracting (setting goals), ending the session/relationship, and making referrals. Genetic counselors have a great deal of responsibility for beginning and ending genetic counseling sessions and relationships and for helping patients establish feasible goals. This chapter describes activities for initiating the genetic counseling session, defines contracting and describes steps in the goal-setting process (including session goals and patient goals), describes genetic counselor activities for ending the session and the relationship, and identifies referral strategies for effective follow-up. Specific examples illustrate the various genetic counselor activities within each session component. Activities and written exercises at the end of this chapter are designed to help students develop skills for initiating, contracting, ending, and referral through self-reflection, practice, and feedback.