Genetic Counselors' Experiences with Paternal Involvement in Prenatal Genetic Counseling Sessions: An Exploratory Investigation

Limited research exists concerning male partners' participation in prenatal genetic counseling (R. Kenen, A. C. M. Smith, C. Watkins, & C. Zuber-Pitore, J. Genet Corns 9, 33–45, 2000). To further understand paternal participation, we interviewed 17 experienced prenatal genetic counselors to assess their perspectives on this issue. We investigated 6 research questions: 1) How do genetic counselors define paternal involvement, 2) how do they determine and address problematic involvement, 3) what factors influence involvement, 4) was paternal involvement addressed in training, 5) how might training be improved, and 6) how do participant strategies for addressing involvement compare to those of marriage/family therapists? Qualitative analysis revealed that 1) participants regard paternal involvement asimportant; 2) most address problematic involvement with strategies similar to those of marital/family therapists; 3) influential factors include male partner's characteristics, the couple's relationship (including culturalpractices), and pregnancy factors; and 4) participants received little or notraining on paternal involvement and recommended didactic and experientialactivities. Implications and research recommendations are presented.     

Client Perceptions of the Impact of Genetic Counseling: An Exploratory Study

Twenty-eight former genetic counseling clients seen at a major Midwestern university were recruited to be interviewed about their genetic counseling experiences, including most and least helpful aspects, what they learned, how this information impacted their decision-making, and their perceptions of their genetic counselors' behaviors. Responses were inductively analyzed, and several themes were identified, including: Clients sought genetic counseling to obtain genetic-medical information; a majority accurately recalled this information; genetic counseling influenced decisions for about 50% of the sample; decision-making was affected by several extra-session factors; a majority experienced distress during the session; most perceived genetic counselor responses as nondirective and liked this approach; counselor behaviors regarded as directive involved discussion of pregnancy termination; participants disagreed about the need for and provision of genetic counselor support; most regarded the session as helpful and stated that they would seek genetic counseling again. Suggestions for addressing these issues in practice and research are given.     

Cystic Fibrosis Prenatal Screening in Genetic Counseling Practice: Recommendations of the National Society of Genetic Counselors

For over a decade, prenatal screening for cystic fibrosis (CF) has been considered a model for the integration of genetic testing into routine medical practice. Data from pilot studies and public policy discourse have led to recommendations by some professional organizations that CF screening should be offered or made available to pregnant women and their partners, and to couples planning a pregnancy. It is crucial that genetic counselors gain thorough understanding of the complexities of CF and the implications of positive test results, so that they may serve as a reliable, educated referral base and resource for health care providers and their patients. While not all pregnant women will be referred for genetic counseling prior to CF carrier testing, genetic counselors often will be asked to counsel clients after they have a positive test result, or who are found to be at increased risk. Genetic counselors can play an important role in providing accurate and current information as well as support for patients informed decisions. These recommendations were created by a multicenter working group of genetic counselors with expertise in CF and are based on personal clinical experience, review of pertinent English language medical articles, and reports of expert committees. The recommendations should not be construed as dictating an exclusive course of management, nor does the use of such recommendations guarantee a particular outcome. These recommendations do not displace a health care providers professional judgment based on the clinical circumstances of a particular client.     

Perceived Genetic Risks for Bipolar Disorder in a Patient Population: An Exploratory Study

Thirty-one subjects with bipolar illness completed a questionnaire about genetic risk for bipolar disorder. Subjects estimated both quantitative and qualitative genetic risk for bipolar disorder for the following categories: general population, siblings, parents, spouses, and children. Results showed that quantitative risks were inflated when compared to qualitative risks and that subjects routinely overestimated the risk for developing bipolar illness. These findings suggest that genetic counseling may be useful for this population.     

An Opportunity for Genetic Counseling Intervention: Depression in Parents of Individuals with Proteus Syndrome

Depression is common, affecting 2–5% of the general population. Parental depression can confound adjustment to, and caring for, a child with a genetic condition. As part of a study on psychosocial issues of parents caring for children with Proteus syndrome, 31 parents (20 mothers and 11 fathers) completed a depression screening tool, the Beck Depression Inventory. Approximately 23% (4/20 mothers and 3/11 fathers) scored positive on the tool. Pessimism, sense of failure, general lack of satisfaction, sense of punishment, self-dislike, social withdrawal, indecisiveness, work inhibition, somatic preoccupation, and loss of libido were reported more frequently by the group of parents with positive screen results than those with normal results. These data suggest that symptoms of depression may be prevailing among parents of individuals with Proteus syndrome. Because effective interventions for depression are readily available, genetic counselors working with families affected with rare, overgrowth disorders should specifically assess parents for physical and affective symptoms of depression and refer them for appropriate clinical treatment.     

Continuation of Pregnancy Following the Diagnosis of a Fetal Sex Chromosome Abnormality: A Study of Parents' Counseling Needs and Experiences

Parents who decide to continue a pregnancy diagnosed with a sex chromosome abnormality (SCA) experience a variety of emotions as they deal with complex medical and genetic information. To better understand these individuals' psychosocial, educational, and support needs, 26 parents who received prenatal diagnosis of an SCA after 1989 and who had decided to continue their pregnancy were interviewed by telephone. Twenty (77%) reported they initially had a poor understanding of the predicted syndrome. All parents later met with a genetics professional. Twenty-two (92%) parents considered sterility and underdevelopment of secondary sexual characteristics to be the most negative aspects of SCAs. Contact with other parents of children with SCAs and with support organizations were generally viewed as helpful experiences. Insight gained from this study should be useful for genetic counselors and other health care providers involved with patients who have received abnormal prenatal diagnosis results.     

Psychological Aspects of Genetic Counseling: XII. More on Counseling Skills

Three brief excerpts of genetic counseling sessions are analyzed to illustrate difficulties in applying counseling skills. Suggestions are advanced as to how genetic counselors might improve their competence in counseling practices and handle such issues as transference more effectively.     

Genetic Counseling Outcomes: Perceived Risk and Distress After Counseling for Hereditary Colorectal Cancer

Genetic counseling may turn risk information into cancer prevention behavior by modifying health beliefs and cancer-related distress. We assessed the effect of genetic counseling on these factors in 101 adult first-degree-relatives of colorectal cancer patients from families with known or suspected hereditary nonpolyposis colorectal cancer. Before counseling and once afterward, subjects completed self-report measures of perceived lifetime risk and cancer-distress. Most persons overestimated their cancer risk, and higher perceived risk was associated with believing that colorectal cancer cannot be prevented. Individual perceived risk changed after counseling, although mean perceived risk was unchanged. After adjusting for baseline risk, older persons and those with higher estimated objective cancer risk had larger postcounseling decreases. Distress after counseling was positively correlated with baseline distress and anxiety symptoms, and inversely correlated with tolerance for ambiguity. The findings suggest counseling interventions that should increase the likelihood of screening and offer hypotheses for future research.     

Consideration of Genetic Counseling as a Career: Implications for Diversifying the Genetic Counseling Field

Under-representation of racial/ethnic minority counselors has been an ongoing issue in the genetic counseling field. A better understanding of genetic counseling awareness and career consideration may help to increase the number of applicants to genetic counseling training programs from racial/ethnic minorities. This study sampled high school and college students (n = 233) to examine their awareness and perceptions of genetic counseling. Ethnicity, gender, parental level of education, and interest in biology were significant predictors of a subjects genetic counseling awareness; previous awareness of genetic counseling, interest in psychology, and level of education were significant predictors of whether a subject would consider genetic counseling as a career. The findings suggest that knowledge of genetic counseling is lower among racial/ethnic minorities, but that racial/ethnic minorities are just as likely to consider genetic counseling as a career. Awareness of genetic counseling prior to university education may increase racial/ethnic minority representation among potential applicants to genetic counseling training programs.     

Psychosocial Genetic Counseling in the Post-Nondirective Era: A Point of View

For three decades nondirectiveness has served as the central ethos for genetic counseling. It has evolved from narrow definitions defining what should not be done to broad definitions that promote active counseling skills in support of client autonomy and informed decision making. As broad definitions have been formulated, the term nondirective has become largely irrelevant to their content; it persists primarily as a historic relic. It has thus become an impediment to creative theory and clinical practice. I propose that nondirectiveness be replaced as the central ethos, while relevant components (providing balanced information, not imposing the counselor's values) are retained as elements of practice and ethics. This raises the question of what principle(s) should be adopted as a new guiding ethos. To promote a discussion of that issue I propose that the central ethos of genetic counseling should be to bring the psychosocial component into every aspect of the work.     

Counseling and screening for cystic fibrosis in patients with congenital bilateral absence of the vas deferens: Patient perceptions

Congenital bilateral absence of the vas deferens (CBAVD) occurs in approximately 1.3% of infertile males and is thought to be, in most cases, a primarily genital form of cystic fibrosis (CF). Fourteen males with CBAVD considering microsurgical sperm aspiration from the epididymis (MESA) and in vitro fertilization were seen for genetic counseling and screening for CF. To retrospectively evaluate these patients' perceptions of the counseling and screening information, we conducted structured telephone interviews to assess their recall of information about CF and its impact on their health concerns and reproductive plans. We found that, as the health implications of CF are abstract and not as important to patients as the diagnosis of CBAVD itself, patients tend to view their CF status primarily in terms of their reproductive potential. Retrospective analysis afforded us an opportunity to identify the psychosocial issues of most concern to this unique patient population.     

Qualitative Cancer Genetic Counseling Research, Part II: Findings from a Exploratory Ethnographic Study in a Cancer Clinic

This is a report of the preliminary findings of a brief exploratory ethnographic study in a cancer diagnosis and treatment clinic. The main research purpose was to explore the meaning of cancer and cancer treatment to patients themselves and to their relatives and close friends. The methods are described in detail in a paper focusing on the experiences of being a novice ethnographer (Peters et al. (2001) J Genet Counsel 10(2):133–150.). The preliminary results of this exploratory fieldwork indicate that the experience of attending a cancer treatment clinic for evaluation and/or treatment is a complex social, emotional as well as medical process for patients and families. Themes with relevance to genetic counselors that emerged from this early observation period included ideas about causes of cancer, the complex nature of families and kinship, coping and support, use of food, and healing. These initial findings have implications for genetic counseling practice and hopefully will stimulate more qualitative social and behavioral research in cancer genetic counseling.     

The Relationship of Nondirectiveness to Genetic Counseling: Report of a Workshop at the 2003 NSGC Annual Education Conference

Nondirectiveness has been a guiding principle for genetic counseling since the founding of the profession. However, its efficacy and appropriateness in this role have been frequently questioned. A workshop at the 2003 Annual Education Conference of the National Society of Genetic Counselors provided audience participation in a discussion of these issues. Participants presented arguments for and against nondirectiveness as a central ethos. They described complex personal transitions in adapting what they had learned about nondirectiveness during training to the realities of the workplace. There was support for flexible approaches to genetic counseling, with varying adherence to nondirectiveness, based on client and family needs and values, clinical circumstances, and desired counseling outcomes. The discussion supports the use of clinical experience, outcomes research, and the experience of other professions to move beyond nondirectiveness and more accurately identify the theoretical bases that underlie genetic counseling in the variety of circumstances in which it is currently practiced.     

Probability Biases in Genetic Problem Solving: A Comparison of Undergraduates, Genetic Counseling Graduate Students, and Genetic Counselors

Heuristics are mental shortcuts that aid people in everyday problem-solving and decision-making. Although numerous studies have demonstrated their use in contexts ranging from consumers’ shopping decisions to experts’ estimations of experimental validity, virtually no published research has addressed heuristics use in problems involving genetic conditions and associated risk probabilities. The present research consists of two studies. In the first study, 220 undergraduates attempted to solve four genetic problems—two common heuristic problems modified to focus on genetic likelihood, and two created to study heuristics and probability rule application. Results revealed that the vast majority of undergraduates used heuristics and also demonstrated a complete misuse of probability rules. In the second study, 156 practicing genetic counselors and 89 genetic counseling students solved slightly modified versions of the genetic problems used in Study 1. Results indicated that a large percentage of both genetic counselors and students used heuristics, but the counselors demonstrated superior problem-solving performance compared to both the genetic counseling students and the undergraduates from Study 1. Research, training, and practice recommendations are presented.     

Assessment of the Use and Feasibility of Video to Supplement the Genetic Counseling Process: A Cancer Genetic Counseling Perspective

Cancer genetic counselors use a variety of teaching modalities for patient education. This survey of cancer genetic counselors assessed their use of educational videos and their recommendations for content of future videos. Thirty percent of respondents use videos for patient education. Cited benefits included reinforcement of information for clients and increased counselor efficiency. Of the 70% who do not use videos, predominant barriers included the perceived lack of an appropriate video, lack of space and/or equipment, and concern that videos are impersonal. Most respondents desired a video that is representative of the genetic counseling session, but emphasized the importance of using broad information. Content considered critical included the pros and cons of genetic testing, associated psychosocial implications, and genetic discrimination. The results of this exploratory study provide data relevant for the development of a cancer genetics video for patient education, and suggestions are made based on aspects of information processing and communication theories.     

Genetic Counseling for Fragile X Syndrome: Recommendations of the National Society of Genetic Counselors

The National Society of Genetic Counselors' (NSGC) recommendations for fragile X syndrome (FXS) genetic counseling are intended to assist health care professionals who provide genetic counseling for individuals and families in whom the diagnosis of FXS is strongly suspected or has been made. The recommendations are the opinions of genetic counselors with expertise in FXS counseling and are based on clinical experience, a review of pertinent English language medical articles, and reports of expert committees. These recommendations should not be construed as dictating an exclusive course of management, nor does use of such recommendations guarantee a particular outcome. These recommendations do not displace a health care provider's professional judgment based on the clinical circumstances of a particular client.     

Perceived Multicultural Counseling Competence of Malaysian Counselors: An Exploratory Study

This study investigated the nature and extent of perceived multicultural counseling competence (MCC) of 508 professional counselors in Malaysia using a national survey approach. Differences in counselors' perceived MCC pertaining to gender, ethnicity, highest education, and multicultural training were examined. Results revealed 5 factors as constituents of MCC and significant differences in perceived MCCs due to ethnicity, highest education, and participation in multicultural training. Implications for future research, counselor education, and counseling practice are discussed. Este estudio investigó la naturaleza y la extensión de la competencia en consejería multicultural (MCC, por sus siglas en inglés) percibida de 508 consejeros profesionales en Malasia usando un enfoque de encuesta nacional. Se examinaron las diferencias en la MCC percibida de los consejeros respecto a sexo, etnicidad, nivel máximo de educación y capacitación multicultural. Los resultados revelaron 5 factores constituyentes de MCC y diferencias significativas en las MCC debido a etnicidad, nivel máximo de educación y participación en capacitación multicultural. Se discuten las implicaciones para investigaciones futuras, educación de consejeros y práctica de la consejería.     

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.     

Development of the Critical Elements of Genetic Evaluation and Genetic Counseling for Genetic Professionals and Perinatologists in Washington State

We present a method for the development of consensus documents describing the components of genetic evaluation and genetic counseling for various diagnoses. These documents were developed to encourage consistency among genetic professionals in Washington State. Other possible uses of these documents are to provide information regarding genetic evaluations for health care practitioners and payers, and to assist in quality assurance and genetic training programs. A working group of six genetic professionals developed two templates for the critical elements of genetic evaluation and genetic counseling, for clinical (nonprenatal) and prenatal patients. The working group then completed prototype templates for several specific genetic disorders. The templates and prototypes were sent to interested genetic professionals and perinatologists who submitted a total of 76 draft critical elements (CE's) to the working group. At two statewide meetings, participating practitioners modified and unanimously approved the CE templates, then unanimously approved the 21 draft CEs that had been finalized in small group discussions. Approved CE's were distributed to genetic professionals and perinatologists within the state.     

Preconception Genetic Counseling: Three Years of Experience at a Community-Based Health Center

In the United States, access to genetic education and services is not equally available to all segments of the population, especially to women of minority backgrounds and low incomes. In response to this issue, the Preconception Genetic Health Education Program (PGHEP) was implemented in September of 1993 at the Woodlawn Maternal and Child Health Center in south side Chicago. The goal of this program is to provide access to genetic services to a previously underserved population. Women attending the family planning clinics are offered free, confidential preconception genetic screening and counseling on-site. As of January 1, 1997, 1300 women have participated in the program. The development and implementation of the PGHEP, client self-reports of family histories and beliefs, and implications for future delivery of genetic services are discussed.