Challenges of Pre- and Post-Test Counseling for Orthodox Jewish Individuals in the Premarital Phase

The Jewish community has traditionally taken ownership of its health, and has taken great strides to raise awareness about genetic issues that affect the community, such as Tay-Sachs disease and Hereditary Breast and Ovarian Cancer syndrome. Thanks in part to these heightened awareness efforts, many Orthodox Jewish individuals are now using genetics services as they begin to plan their families. Due to unique cultural and religious beliefs and perceptions, the Orthodox Jewish patients who seek genetic counseling face many barriers to a successful counseling session, and often seek the guidance of programs such as the Program for Jewish Genetic Health (PJGH). In this article, we present clinical vignettes from the PJGH’s clinical affiliate, the Reproductive Genetics practice at the Montefiore Medical Center. These cases highlight unique features of contemporary premarital counseling and screening within the Orthodox Jewish Community, including concerns surrounding stigma, disclosure, “marriageability,” the use of reproductive technologies, and the desire to include a third party in decision making. Our vignettes demonstrate the importance of culturally-sensitive counseling. We provide strategies and points to consider when addressing the challenges of pre- and post-test counseling as it relates to genetic testing in this population.     

Genetic Counseling: A Transnational Perspective

Although the basic goal and components of genetic counseling appears to be the same across the globe, judged by my experiences there are significant differences in the provision of genetic counseling services in Australasia (Australia and New Zealand) and India. There is poor recognition of the professional status of a genetic counselor in India at present. This may be partly because genetic counseling itself is a relatively new discipline within the medical field in India, although some types of genetic services and research have been conducted since 1960s. In this paper, I aim to provide insight from my personal transnational experiences.     

植入前遗传学诊断中性别选择的伦理辩护

植入前遗传学诊断（PGD）是在胚胎植入子宫前进行遗传学检查的新技术。它可对植入胚胎进行性别选择,从而引发了会增加我国出生人口性别比的担忧。通过对PGD性别选择伦理风险的分析,指出其用于医学需要时不会对性别比造成危害。但在实施过程中需要医生、患者及社会全体人员共同参与,避免该技术用于非医学目的的需要。     

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.     

Exploring Genetic Counseling Communication Patterns: The Role of Teaching and Counseling Approaches

The educational and counseling models are often touted as the two primary professional approaches to genetic counseling practice. Yet, research has not been conducted to examine how these approaches are used in practice. In the present study, we conducted quantitative communication analyses of BRCA1 genetic counseling sessions. We measured communication variables that represent content (e.g., a biomedical focus) and process (e.g., passive listening) to explore whether genetic counselor approaches are consistent with prevailing professional models. The Roter Interaction Analysis System (RIAS) was used to code 167 pre-test genetic counseling sessions of members of a large kindred with an identified BRCA1 mutation. Three experienced genetic counselors conducted the sessions. Creating composite categories from the RIAS codes, we found the sessions to be largely educational in nature with the counselors and clients devoting the majority of their dialogue to providing biomedical information (62 and 40%, respectively). We used cluster analytic techniques, entering the composite communication variables and identified four patterns of session communication: Client-focused psychosocial, biomedical question and answer, counselor-driven psychosocial, and client-focused biomedical. Moreover, we found that the counselors had unique styles in which they combined the use of education and counseling approaches. We discuss the importance of understanding the variation in counselor communication to advance the field and expand prevailing assumptions.     

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.     

Does Religiosity Predict Attitudes Toward Psychotherapy?

Several studies have demonstrated that Jewish people have positive attitudes toward psychotherapy. This study differentiates among Orthodox, Conservative, and Reform Jewish groups to test whether there are differences in the level of religiosity and practice among these different affiliations to Judaism and whether these differences may influence attitudes toward seeking psychological help. Despite significant differences in religiosity and level of practice, results indicate that positive attitudes are present among all affiliations. However, Orthodox Jews are significantly more likely to use their rabbi as a source for psychological counseling and perhaps as a conduit to professional treatment.     

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.     

Genetic Counseling and the Ethical Issues Around Direct to Consumer Genetic Testing

Over the last several years, direct to consumer(DTC) genetic testing has received increasing attention in the public, healthcare and academic realms. DTC genetic testing companies face considerable criticism and scepticism,particularly from the medical and genetic counseling community. This raises the question of what specific aspects of DTC genetic testing provoke concerns, and conversely,promises, for genetic counselors. This paper addresses this question by exploring DTC genetic testing through an ethic allens. By considering the fundamental ethical approaches influencing genetic counseling (the ethic of care and principle-based ethics) we highlight the specific ethical concerns raised by DTC genetic testing companies. Ultimately,when considering the ethics of DTC testing in a genetic counseling context, we should think of it as a balancing act. We need careful and detailed consideration of the risks and troubling aspects of such testing, as well as the potentially beneficial direct and indirect impacts of the increased availability of DTC genetic testing. As a result it is essential that genetic counselors stay informed and involved in the ongoing debate about DTC genetic testing and DTC companies. Doing so will ensure that the ethical theories and principles fundamental to the profession of genetic counseling are promoted not just in traditional counseling sessions,but also on a broader level. Ultimately this will help ensure that the public enjoys the benefits of an increasingly genetic based healthcare system.     

The Seminal Contribution of Rabbi Moshe Feinstein to the Development of Modern Jewish Medical Ethics

The purpose of this essay is to show how, on a wide variety of issues, Rabbi Moshe Feinstein broke new ground with the established Orthodox rabbinic consensus and blazed a new trail in Jewish medical ethics. Rabbi Feinstein took power away from the rabbis and let patients decide their treatment, he opened the door for a Jewish approach to palliative care, he supported the use of new technologies to aid in reproduction, he endorsed altruistic living organ donation and recognized brain death (thus laying the groundwork for Orthodox Jewish acceptance of heart transplantation), he downplayed the value of social worth in triage decisions, and was a fierce defender of the rights of the fetus. I develop broader theological principles from Rabbi Feinstein's ethical positions and compare them to those of his Jewish and Christian contemporaries.     

Genetic Counseling Practice in Next Generation Sequencing Research: Implications for the Ethical Oversight of the Informed Consent Process

The potential for next generation sequencing research (NGS) to generate individual genetic results could have implications for the informed consent process and the provision of genetic counseling. We undertook a content analysis of informed consent templates and guidelines produced by Canadian institutional review boards, purposively sampling documents used by researchers to obtain consent from participants in genetics studies. Our goal was to examine the extent to which the informed consent documents addressed genetic counseling and the return of individual genetic results. Our analysis reveals that the majority of informed consent documents did not mention genetic counseling while several did not mention the return of results. We found differences in the ways in which documents addressed availability of counseling, eligibility criteria for referral to a genetic counselor, genetic counselor involvement, provision of services to family members of participants and incidental findings. From an ethical standpoint, consent documents should provide appropriate information so that participants may make an informed decision about their participation in research. The need to ensure adequate counseling for study populations in an NGS research context will necessarily involve adapting values that underlie care in genetic counseling practice. If the interests of research participants are to be truly promoted, the drafting and review of informed consent documents should give proper due to genetic counseling.     

Approaching Complex Cases With a Crisis Intervention Model and Teamwork

Patients referred for genetic counseling may be in a state of crisis, feeling as though they are incapable of making decisions about the management of their pregnancy, genetic testing options and/or life planning issues. The role of the genetic counselor is to assist a patient through this crisis state by increasing the patient's understanding and by helping to facilitate decision making and adjustment to those decisions. In this paper we present a clinical genetic counseling case that was complicated by numerous medical and psychosocial issues. The wide scope of this case required the involvement of both a prenatal and a medical genetic counselor. Working as a team we utilized a crisis intervention model. Our counseling focused on identifying and isolating the issues, providing factual information, setting a time frame for decisions to be made, and encouraging social support and emotion-focused coping strategies.     

Teaching About Genetic Testing Issues in the Undergraduate Classroom: A Case Study

Educating undergraduates about current genetic testing and genomics can involve novel and creative teaching practices. The higher education literature describes numerous pedagogical approaches in the laboratory designed to engage science and liberal arts students. Often these experiences involve students analyzing their own genes for various polymorphisms, some of which are associated with disease states such as an increased risk for developing cancer. While the literature acknowledges possible ethical ramifications of such laboratory exercises, authors do not present recommendations or rubrics for evaluating whether or not the testing is, in fact, ethical. In response, we developed a laboratory investigation and discussion which allowed undergraduate science students to explore current DNA manipulation techniques to isolate their p53 gene, followed by a dialogue probing the ethical implications of examining their sample for various polymorphisms. Students never conducted genotyping on their samples because of ethical concerns, so the discussion served to replace actual genetic testing in the class. A basic scientist led the laboratory portion of the assignment. A genetic counselor facilitated the discussion, which centered around existing ethical guidelines for clinical genetic testing and possible challenges of human genotyping outside the medical setting. In their final papers, students demonstrated an understanding of the practice guidelines established by the genetics community and acknowledged the ethical considerations inherent in p53 genotyping. Given the burgeoning market for personalized medicine, teaching undergraduates about the psychosocial and ethical dimensions of human gene testing seems important and timely, and introduces an additional role genetic counselors can play in educating consumers about genomics.     

A Quiet Revolution: The Birth of the Genetic Counselor at Sarah Lawrence College, 1969

In 1969 Melissa Richter founded the first master’s degree genetic counseling program in the country at Sarah Lawrence College in Bronxville, New York. This article examines the myriad factors that contributed to the birth of the genetic counselor and situates this historical watershed in its social, cultural, academic, and medical context. This article highlights Richter’s prescience and path-breaking vision, evaluates the Sarah Lawrence program during the years of her directorship (1969–1972), and explores how this early foundation subsequently shaped the field of genetic counseling. Close attention is paid to the ethical issues that concerned Richter and their ongoing relevance to genetic health professionals today. This article is based on historical research in archives, consultation of primary sources, and oral history interviews with genetic counselors, geneticists, and allied professionals.     

Attitudes Toward Pre-implantation Genetic Diagnosis (PGD) for Genetic Disorders Among Potential Users in Malaysia

While pre-implantation genetic diagnosis (PGD) is available and legal in Malaysia, there is an ongoing controversy debate about its use. There are few studies available on individuals’ attitudes toward PGD, particularly among those who have a genetic disease, or whose children have a genetic disease. To the best of our knowledge, this is, in fact, the first study of its kind in Malaysia. We conducted in-depth interviews, using semi-structured questionnaires, with seven selected potential PGD users regarding their knowledge, attitudes and decisions relating to the use PGD. The criteria for selecting potential PGD users were that they or their children had a genetic disease, and they desired to have another child who would be free of genetic disease. All participants had heard of PGD and five of them were considering its use. The participants’ attitudes toward PGD were based on several different considerations that were influenced by various factors. These included: the benefit-risk balance of PGD, personal experiences of having a genetic disease, religious beliefs, personal values and cost. The study’s findings suggest that the selected Malaysian participants, as potential PGD users, were supportive but cautious regarding the use of PGD for medical purposes, particularly in relation to others whose experiences were similar. More broadly, the paper highlights the link between the participants’ personal experiences and their beliefs regarding the appropriateness, for others, of individual decision-making on PGD, which has not been revealed by previous studies.     

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.     

Expansion of Genetic Services Utilizing a General Genetic Counseling Clinic

We established a general genetic counseling clinic (GCC) to help reduce long wait times for new patient appointments and to enhance services for a subset of patients. Genetic counselors, who are licensed in Tennessee, were the primary providers and MD geneticists served as medical advisors. This article describes the clinic referral sources, reasons for referral and patient dispositions following their GCC visit(s). We obtained patients by triaging referrals made to our medical genetics division. Over 24 months, our GCC provided timely visits for 321 patients, allowing the MD geneticists to focus on patients needing a clinical exam and/or complex medical management. Following their GCC visit(s), over 80 % of patients did not need additional appointments with an MD geneticist. The GCC allowed the genetic counselor to spend more time with patients than is possible in our traditional medical genetics clinic. Patient satisfaction surveys (n?=?30) were very positive overall concerning the care provided. Added benefits for the genetic counselors were increased professional responsibility, autonomy and visibility as health care providers. We conclude that genetic counselors are accepted as health care providers by patients and referring providers for a subset of clinical genetics cases. A GCC can expand genetic services, complement more traditional genetic clinic models and utilize the strengths of the genetic counselor health care provider.     

Twin Gestation Pregnancies: Genetic Counseling and Testing Experience

We report on the prenatal genetic counseling and testing experience in 343 pregnancies with twin or higher multiple gestations. By self-report, 8% (27/343) parents of these pregnancies reported meeting with a genetic counselor, and 23% (79/343) elected prenatal genetic testing. The most common testing procedures elected were maternal serum analyte screening and amniocentesis to identify fetuses with aneuploidy or neural tube defects. Use of prenatal genetic testing was correlated with advanced maternal age. No association was found between use of genetic testing and use of OI/ART or the length of time needed to conceive. Forty percent (11/27) of those who met with a genetic counselor opted to decline prenatal testing/screening. These data suggest that although clients with multiple gestation pregnancies would likely benefit from genetic counseling, many are not availing themselves of this service. Implications of these data for the genetic counseling profession are discussed.