Suicide prevention in the genetic counseling context

Utilizing a case report, this paper explores psychosocial aspects of suicidal intent in a woman seeking prenatal diagnosis. Using knowledge and practice of appropriate assessment, referral, and intervention procedures, the therapy team of genetic counselor and psychotherapist facilitated successful identification and management of this potentially suicidal client. The main counseling goals for the genetic counselor are to assess the situation adequately, decrease the immediate danger, and, with supervision and/or consultation, stabilize the seriously suicidal person until that individual can be triaged to mental health or medical professionals for treatment. The prevalence of suicide issues in genetic counseling contexts is unknown and reports mentioning suicidal ideation unusual in the genetic counseling literature. Is this reported case a rarity among genetic counseling referrals? Systematically collected information on the prevalence and resolution of suicidal issues in genetic counseling contexts would be helpful for those setting curricula for genetic counseling training programs, standards for professional certification exams, and policy and procedures manuals for clinical units.     

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.     

Commentary: How Individual and Profession-level Factors Influence Discussion of Disability in Prenatal Genetic Counseling

Hodgson and Weil (Journal of Genetic Counseling, 2011) reports on two interactive workshops in which genetic counselors identified a broad set of counseling issues that may be impediments to promoting an adequate discussion of disability in prenatal genetic counseling. The present commentary discusses two factors that we infer underlie these counseling issues. First, countertransference concerning disability, which is normal and expected, may influence genetic counselors’ decisions about raising and exploring the complex topic of disability in prenatal genetic counseling. Second, the limited involvement of the profession of genetic counseling in the complex social and ethical issues of disability provide little guidance to the individual genetic counselor with respect to discussing disability in prenatal diagnosis counseling. We suggest both factors must be acknowledged and addressed in order to adequately implement the recommendations presented in Hodgson and Weil (Journal of Genetic Counseling, 2011) as well as other efforts to increase discussion of disability in prenatal diagnosis counseling in the service of informed decision making.     

Practice variability in prenatal genetic counseling

This study demonstrated that the content of prenatal genetic counseling sessions varied from counselor to counselor and from center to center. The study was designed to examine which specific issues were included by genetic counselors in prenatal genetic counseling sessions, and to determine which factors led genetic counselors to include or exclude this information from such sessions. Data were collected by randomly surveying 200 full, master degree members of the National Society of Genetic Counselors (NSGC). Respondents provided information by deciding which of 45 specific issues they would include in a standard prenatal genetic counseling session, and which one factor from a bank of 11 factors most accurately described the reason for this decision. The results indicated that the issues included/excluded from sessions varied widely among genetic counselors. The results also indicated that Patient Education/Informed Decision Making (34.5%) played the largest role in decision making overall, with Standard at Center/Departmental Policy (17.6%), Personal Experience/Preference (12.4%), and Applicability (10.9%) serving as the next three most important reasons for including or excluding issues from prenatal genetic counseling sessions.     

Inherited Thrombophilia: Key Points for Genetic Counseling

With the evolution of medical genetics to focus on highly prevalent, multifactorial conditions, it is inevitable that genetic counselors will be called upon to participate in the evaluation and counseling of individuals with inherited thrombophilia. The purpose of this review is to educate the genetic counselor on key issues related to risk assessment and genetic counseling for hereditary thrombophilia. The information contained in this document is derived from an extensive review of the literature, as well as the author's personal expertise. Upon completion of this review, the genetic counselor will be able to: a) describe inherited and acquired risk factors for thrombosis, b) collect and interpret personal and family histories to assess risk related to hereditary thrombophilia, c) discuss the potential advantages and disadvantages of thrombophilia testing, including psychosocial aspects and implications for medical management, and d) identify educational and support resources for patients and families.     

Genetic Counseling for the Orthodox Jewish Couple Undergoing Preimplantation Genetic Diagnosis

Orthodox Jewish patients who seek genetic counseling are often placed in a difficult position of having to choose between their desire to follow Jewish religious instruction (halacha) and following the advice of the genetic counselor. In this article we will present the work of the Puah Institute based in Jerusalem that is dedicated to assisting and guiding such couples to navigate through the medical system and medical recommendations and create a harmony between modern genetic counseling and the Orthodox Jewish tradition. In light of the expanding use of preimplantation genetic diagnosis (PGD) for a variety of medical and non-medical conditions, this dilemma is even more poignant. There is an ethical debate regarding PGD and the correct parameters for its use. Here we present the Orthodox Jewish view of the use and abuse of PGD. We present three case studies that sought the assistance and guidance of the Puah Institute. Each of these cases raises ethical dilemmas for the genetic counselor and for the rabbinic counselor. We discuss; the status of the embryo, the status of a carrier of a genetic abnormality and whether PGD is an obligation or good practice. In addition we deal with whether PGD and the search for the desired traits can be defined as eugenics or not.     

Culture and Acculturation Influences on Palestinian Perceptions of Prenatal Genetic Counseling

Patient cultural backgrounds strongly influence decision-making processes and outcomes in genetic counseling. The present study investigated influences of culture and acculturation on prenatal decision making processes of native Palestinians and Palestinian Americans. Seventeen native Palestinians and 14 first-generation, Palestinian Americans were interviewed and asked to imagine themselves as patients in hypothetical premarital and prenatal situations. Five major issues were investigated: 1) Influence of family history of an inherited condition on pre-marital decisions; 2) Perceptions of non-directive genetic counselor statements regarding options; 3) Role of gender in prenatal decisions; 4) Gender differences in emotional expression; and 5) Role of family and society in prenatal decisions. Several similarities and differences in native Palestinian and Palestinian American responses were obtained. Similarities appear to be due to common cultural roots, while differences may be due to acculturation. Practice and research recommendations are provided. An erratum to this article can be found at     

The role of beneficence in clinical genetics: Non-directive counseling reconsidered

The popular view of non-directive genetic counseling limits the counselor's role to providing information to clients and assisting families in making decisions in a morally neutral fashion. This view of non-directive genetic counseling is shown to be incomplete. A fuller understanding of what it means to respect autonomy shows that merely respecting client choices does not exhaust the duty. Moreover, the genetic counselor/client relationship should also be governed by the counselor's commitment to the principle of beneficience. When non-directive counseling is reexamined in light of both these principles, it becomes clear that there are cases in which counselors should attempt to persuade clients to reconsider their decisions. Such attempts are consistent with non-directive counseling because, while respecting the clients' decision-making authority, they insure that clients act with full knowledge of the moral consequences of their decisions.     

Approaching Complex Cases With a Crisis Intervention Model and Teamwork: A Commentary

This article is a response to the case of SA presented by O'Daniel and Wells. In this response I support the approach used with the patient, and discuss and expand on the applicability of a crisis intervention model to genetic counseling. In addition, I explore the issue of autonomy and informed decision making for patients who are in crisis. I also discuss the surface contradiction between the mandate for nondirectiveness and the need to provide direction during crisis intervention are discussed and reframe the issue as one of process versus content directiveness. I argue that during times of crisis, genetic counselors may need to direct process in order for patients to be able to make autonomous decisions.     

Generations Lost: A Cancer Genetics Case Report

The process of cancer genetic counseling can unearth issues that, sometimes unbeknownst to the counselor, are emotionally and psychologically significant to the patient. The following case report illustrates how the precounseling process of obtaining a medical chart on a deceased parent affected two sister counselees. This medical chart helped these sisters to reconnect with the mother they lost as children and to better understand her struggle with breast cancer. This case also chronicles the counselor's professional growth and discovery during this process.     

Conceptualizing Genetic Counseling as Psychotherapy in the Era of Genomic Medicine

Discussions about genetic contributions to medical illness have become increasingly commonplace. Physicians and other health-care providers in all quarters of medicine, from oncology to psychiatry, routinely field questions about the genetic basis of the medical conditions they treat. Communication about genetic testing and risk also enter into these conversations, as knowledge about genetics is increasingly expected of all medical specialists. Attendant to this evolving medical landscape is some uncertainty regarding the future of the genetic counseling profession, with the potential for both increases and decreases in demand for genetic counselors being possible outcomes. This emerging uncertainty provides the opportunity to explicitly conceptualize the potentially distinct value and contributions of the genetic counselor over and above education about genetics and risk that may be provided by other health professionals. In this paper we suggest conceptualizing genetic counseling as a highly circumscribed form of psychotherapy in which effective communication of genetic information is a central therapeutic goal. While such an approach is by no means new—in 1979 Seymour Kessler explicitly described genetic counseling as a “kind of psychotherapeutic encounter,” an “interaction with a psychotherapeutic potential”—we expand on his view, and provide research evidence in support of our position. We review available evidence from process and outcome studies showing that genetic counseling is a therapeutic encounter that cannot be reduced to one where the counselor performs a simple “conduit for information” function, without losing effectiveness. We then discuss potential barriers that may have impeded greater uptake of a psychotherapeutic model of practice, and close by discussing implications for practice.     

The Effects of Enhanced Informed Consent in a Pro-Life Pregnancy Counseling Center

The current study investigated the effects of an enhanced informed consent condition on attitudes toward a counselor, counseling situation, and decision making in a pro-life pregnancy center. The following questions were specifically addressed: (1) Would enhanced informed consent be related to increased pro-abort decisions? and (2) Would enhanced informed consent be related to more positive attitudes toward the counselor and center? Results suggested that enhanced consent did not lead to increased or decreased decisions to abort nor to differential attitudes toward the counselor or counseling setting. Results are discussed in terms of their support for the provision of full informed consent as consistent with both prevailing ethical and legal guidelines.     

The Experience of Genetic Counselors Working with Patients Facing the Decision of Pregnancy Termination after 24 Weeks Gestation

Prenatal genetic counselors are health care professionals who counsel women making reproductive decisions which include decisions such as terminating pregnancies due to fetal anomalies. Little is known about the experiences and practices of prenatal genetic counselors working with women who have the option of termination after 24 weeks gestation. In this national survey of 168 genetic counselors who have practiced prenatal genetic counseling, we asked about their general practice patterns, including indications for which termination is offered and types of abortion care services that are coordinated by genetic counselors. We report respondents’ self-assessments of level of understanding of federal abortion law and abortion procedures. Seventy-six percent of respondents have offered and counseled on termination after 24 weeks and 93% of respondents believe it is the responsibility of the counselor to discuss this option with patients. However, one-third report that they have some or no understanding of the procedures and three-quarters report that they have some or no understanding of federal abortion law. The results of this study provide insight into knowledge and experiences of genetic counselors working with these patients, allowing for improved genetic counselor training and continuing education to provide better guidance and develop more effective means of assisting patients.     

Commentary on “Life as a Pregnant Genetic Counselor”

The genetic counseling role is complex. There are frequently challenges raised for the genetic counselor both personally with the client and through factors external to the genetic counselor such as the clinical setting. The pregnant genetic counselor working in a prenantal diagnosis center may be confronted by her own countertransference towards the client or by the client’s tranference. The processes of transference and countrtransference need to be clearly understood, identified and dealt with in a sensitive self aware manner to facilitate the role of communicating empathically and giving genetic information to facilitate informed client decision making. Regular professional supervision and debriefing for the genetic counselor are essential to develop professional boundaries and to develop self awareness.     

Role of Parenting Relationship Quality in Communicating about Maternal BRCA1/2 Genetic Test Results with Children

It is known that many mothers rapidly share the results of their BRCA1/2 genetic testing with their children, especially adolescent children. What is less known is the extent to which these mothers may engage fathers in a discussion concerning genetic counseling and the anticipated disclosure of genetic test results to children, or seek shared decision making in this context. This short communication addresses this issue by first examining mothers' and fathers' discussions concerning a research study of family communication. In our view, this conversation likely served as a precursor to, and proxy indicator of, maternal receptivity to partner input regarding the genetic counseling/testing-results disclosure process. We further evaluated how the quality of the parenting relationship is associated with mothers' decisions to include or not include the child's father in this study. Finally, this report addresses potential ways in which the genetic counselor may be able to facilitate parental communication regarding the evolving process of disclosure of genetic information to children and adolescents.     

Teaching Genomic Counseling: Preparing the Genetic Counseling Workforce for the Genomic Era

Genetic counselors have a long-standing history of working on the clinical forefront of implementing new genetic technology. Genomic sequencing is no exception. The rapid advancement of genomic sequencing technologies, including but not limited to next generation sequencing approaches, across all subspecialties of genetic counseling mandates attention to genetic counselor training at both the graduate and continuing education levels. The current era provides a tremendous opportunity for counselors to become actively involved in making genomics more accessible, engaging the population in decisions to undergo sequencing and effectively translating genomic information to promote health and well-being. In this commentary, we explore reasons why genomic sequencing warrants particular consideration and put forward strategies for training program curricula and continuing education programs to meet this need.     

Attitude of Medical School Students in China Towards Genetic Testing and Counseling Issues in FXS

Fragile X syndrome (FXS) is the most common form of inherited intellectual disability. However, genetic testing protocols and genetic counseling guidelines for FXS are not yet established in mainland China. In the present study, we conducted a comprehensive analysis using a self-administered questionnaire among students at the Xiangya medical school to investigate their attitude towards genetic testing and counseling issues of FXS. We have gained a general understanding of the attitudes of medical students towards these FXS issues in China. This information is of immense importance to develop appropriate genetic tests and to train counselors for FXS. As the medical school students surveyed are prospective physicians who will be a part of the Chinese health system, our survey was focused on the basic knowledge of FXS, population-based FXS screening, confidentiality and reproductive options for mutation carriers. The study demonstrated that only less than one third of the participants had heard about FXS. 94.6 % of participants were in favor of FXS screening for women in their reproductive age who had a genetic history of FXS. Furthermore, only half of the participants would inform their families about their genetic status in case of positive test results, and more than half of the participants supported natural conception and prenatal diagnosis for FXS mutation carriers. Additional findings and research implications are also discussed. This survey targeting potential doctors provides important information for the development of FXS genetic test and counselor training for the Chinese health system.     

Balancing Genetics (Science) and Counseling (Art) in Prenatal Chromosomal Microarray Testing

Genetic counselors frequently are called upon to assist patients in understanding the implications of prenatal testing information for their pregnancies and their family’s lives. The introduction of highly sensitive testing such as chromosomal microarray has generated additional kinds of uncertainty into the prenatal period. Counselors may feel uncomfortable or inadequately prepared to engage in discussions with prospective parents who are faced with making critical, and timely, decisions about a pregnancy based on uncertain information. As highly sensitive prenatal testing becomes routine in prenatal care, counselors may be in search of approaches to prenatal counseling, as well as specific skills to approach, engage with, and help families find resolution in such challenging circumstances. To assist genetic counselors, we describe practice skills and provide language for approaching conversations with prospective parents. When clinicians regularly provide care to patients and families making life-altering decisions under conditions of significant uncertainty, discomfort is common and compassion fatigue is likely. We make recommendations directly to the genetic counselor working in reproductive and perinatal settings to enhance training and self-care and to decrease discomfort in balancing the scientific- and art- demands of genetic counseling.