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Showing papers in "Journal of Genetic Counseling in 2001"


Journal ArticleDOI
TL;DR: A longitudinal study of 43 families referred to a clinical genetic service was undertaken to ascertain client needs and expectations of the service, and to identify relevant outcomes from the clients' perspective.
Abstract: Previous studies of genetic counseling have mainly focused on outcomes defined by researchers or service providers, and have frequently related to changes in reproductive behavior and/or client knowledge. A longitudinal study of 43 families referred to a clinical genetic service was undertaken to ascertain client needs and expectations of the service, and to identify relevant outcomes from the clients' perspective. Semistructured interviews were conducted with each client, prior to and after genetic counseling. The transcribed interviews were analyzed using grounded theory. The need for certainty emerged as a powerful factor that motivated clients to pursue the genetic referral. The client's lay knowledge of the condition, satisfaction of the need for certainty, and the formation of a personalized relationship between the client and the genetics staff significantly influenced the central outcome, identified as a change in the client's psychological adaptation to the genetic condition in the family.

91 citations


Journal ArticleDOI
TL;DR: This study used a structured questionnaire to assess the potential uptake of prenatal diagnosis (PND) for inherited deafness, and document the opinions of deaf and hearing individuals toward PND and termination of pregnancy (TOP) for hearing status.
Abstract: Genetic testing for inherited deafness is now available within some genetics centres. This study used a structured questionnaire to assess the potential uptake of prenatal diagnosis (PND) for inherited deafness, and document the opinions of deaf and hearing individuals toward PND and termination of pregnancy (TOP) for hearing status. Participants were self-selected from the whole of the UK, of whom 644 were deaf, 143 were hard of hearing or deafened, and 527 were hearing individuals who had either a deaf parent or child. The results showed that 21% of deaf, 39% of hard of hearing and deafened, and 49% of hearing participants said they would consider PND for deafness. Six percent of deaf, 11% of hard of hearing and deafened, and 16% of hearing participants said they would consider a TOP if the fetus was found to be deaf. Two percent of deaf participants said they would prefer to have deaf children and would consider a TOP if the fetus was found to be hearing.

78 citations


Journal ArticleDOI
TL;DR: An understanding of patient's attitudes and concerns impacting their decisions to decline cancer genetic counseling is provided to provide guidance for the development of interventions designed to limit barriers among patients referred for such services.
Abstract: Little is known about the factors influencing patients' decisions about whether to utilize cancer genetic counseling services. The purpose of this study is to identify potential barriers to broad utilization of such services. Of a total of 136 decliners of cancer genetic counseling services at our institution, 117 were deemed eligible to participate. Of these, 73 were randomly selected for study. A total of 37/73 (51%) agreed to participate in a semistructured telephone survey designed to assess the factors that impacted their decisions to decline cancer genetic counseling. An interview script, composed of both closed- and open-ended questions, was used to direct the survey. Interviews were audiotaped. Responses to open-ended questions were content analyzed. Of the participants, 34 were female and 36 were Caucasian. Seventy-two percent of the participants were between ages 36 and 55 years. Participants cited the following reasons for choosing not to proceed with cancer genetic counseling: concern over health insurability for self or family (n = 15); cost (n = 12); emotional impact on self or family (n = 11); no perceived benefit (n = 11); and time commitment (n = 9). These data provide an understanding of patient's attitudes and concerns impacting their decisions to decline cancer genetic counseling. This information provides guidance for the development of interventions designed to limit barriers among patients referred for such services.

75 citations


Journal ArticleDOI
TL;DR: Ninety-seven physicians, nurses, and genetic counselors from four regions within the United States participated in focus groups to identify the types of ethical and professional challenges that arise when their patients have genetic concerns.
Abstract: Ninety-seven physicians, nurses, and genetic counselors from four regions within the United States participated in focus groups to identify the types of ethical and professional challenges that arise when their patients have genetic concerns. Responses were taped and transcribed and then analyzed using the Hill et al. (1997, Counsel Psychol 25:517–522) Consensual Qualitative Research method of analysis. Sixteen major ethical and professional domains and 63 subcategories were identified. Major domains are informed consent; withholding information; facing uncertainty; resource allocation; value conflicts; directiveness/nondirectiveness; determining the primary patient; professional identity issues; emotional responses; diversity issues; confidentiality; attaining/maintaining proficiency; professional misconduct; discrimination; colleague error; and documentation. Implications for practitioners who deal with genetic issues and recommendations for additional research are given.

66 citations


Journal ArticleDOI
TL;DR: A methodology that is designed specifically to build theory about psychosocial processes from a strong evidence base is described, and how it can contribute to the development of practice in genetic counseling is explained.
Abstract: The practice of genetic counseling is in need of evidence-based theoretical frameworks. Although strategies used in genetic counseling are increasingly evidence-based, the field of genetic counseling does not have a generally accepted theoretical basis for development of therapeutic interventions. We know very little about (1) what actually happens in genetic counseling and (2) the impact it has on clients and their families. A number of researchers have used a variety of approaches in an attempt to introduce some theoretical basis for genetic counseling research and practice. Other workers have used experience in their clinical practice to write theoretically about the kinds of processes that might be going on in and around genetic counseling. However, there are few studies to date, which have attempted to build theory modeling the psychosocial processes that take place in and around the genetic counseling clinic using empirical data. This paper describes a methodology (grounded theory) that is designed specifically to build theory about psychosocial processes from a strong evidence base, and explains how it can contribute to the development of practice in genetic counseling.

65 citations


Journal ArticleDOI
TL;DR: Results from a study that provided a unique opportunity to determine whether women of African American, European American, Native American, or Ashkenazi Jewish ancestry have varying interest in having cancer genetic counseling report that those who accepted genetic counseling had a higher educational level, a higher perceived risk of breast cancer, and were more likely to expect a positive BRCA1 or BRCa2 genetic test if they were to undergo genetic testing.
Abstract: Genetic counseling has been suggested as a means of providing information and support to women with a family history of breast cancer. Yet women who undergo cancer genetic counseling in the United States generally consist of only a subset of those at risk, namely well-educated, upper-middle class, European American and Jewish women. We report outcomes from a study that provided a unique opportunity to determine whether women of African American, European American, Native American, or Ashkenazi Jewish ancestry have varying interest in having cancer genetic counseling. The study offered a genetic counseling session to 97 women with a family history of breast cancer who were participating in a larger interview study designed to assess attitudes toward genetic testing for breast cancer. The study offered genetic counseling free of charge to all study participants with a family history of breast cancer, removing the potential barriers of cost, the need for a physician referral, and lack of awareness of genetic counseling. Fifty women out of the 97 women offered genetic counseling (52%) accepted the offer by completing a session. Those who accepted genetic counseling had a higher educational level, a higher perceived risk of breast cancer, and were more likely to expect a positive BRCA1 or BRCA2 genetic test if they were to undergo genetic testing. When controlling for education level, there was no correlation between the participants' ethnic background and acceptance of a genetic counseling session. Outreach efforts to minority populations may increase awareness of the availability of genetic counseling and may facilitate participation by such populations.

57 citations


Journal ArticleDOI
TL;DR: For example, the authors found that subjects with bipolar disorder routinely overestimated the risk for developing bipolar disorder and showed that genetic counseling may be useful for this population, and that the risk of developing bipolar disorders was inflated when compared to qualitative risks.
Abstract: 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.

41 citations


Journal ArticleDOI
TL;DR: This qualitative study asked Australian Genetic Counselors and Clinical Geneticists working in cancer genetics to describe their practice when a woman attends a consultation about her family history and her risk of developing breast cancer.
Abstract: This qualitative study asked Australian Genetic Counselors and Clinical Geneticists working in cancer genetics to describe their practice when a woman attends a consultation about her family history and her risk of developing breast cancer. Twenty-nine out of 36 Clinical Geneticists/Genetic Counselors returned the questionnaire (82%). Participants identified the key goals of the consultation as (a) identifying the individual needs and concerns of the woman, (b) providing information on genes and chromosomes, (c) giving an individual risk assessment in the context of supportive interaction, and (d) discussing the pros and cons of genetic testing and putting a surveillance plan into place. Respondents emphasized the dual importance of counseling/support and information provision in this setting, suggesting that one could not be given without the other. Implications for clinical practice are discussed.

38 citations


Journal ArticleDOI
TL;DR: Several parents commented on the favorable aspects of counseling, including getting information they needed to deal with the diagnosis and relief of guilt, and the timing of the offer of genetic counseling is important and needs to take into account parents' coping strategies after diagnosis.
Abstract: Little is known about factors determining which families utilize genetic counseling services. We conducted semistructured interviews with parents of four children born with cystic fibrosis (CF) and ten with Down's syndrome (DS) to ascertain reasons for using, or not using, genetic counseling services in the state of Victoria, Australia. We also explored the usefulness of genetic counseling for the families who had experienced it, and the perceived role of genetic counseling. All mothers of children with CF see a genetic counselor as part of a structured education program following diagnosis through newborn screening. Information overload was identified by them as an important problem. There is no specific program for families of children with DS. Six of them had received genetic counseling and four had not, either because it was not specifically offered to them or because they did not pursue it in the context of misconceptions about its purpose. The timing of the offer of genetic counseling is important and needs to take into account parents' coping strategies after diagnosis. Several parents commented on the favorable aspects of counseling, including getting information they needed to deal with the diagnosis and relief of guilt. Better awareness of genetic counseling by referring physicians, and providing counseling at more than one visit, may contribute to a more effective service.

34 citations


Journal ArticleDOI
TL;DR: The provision of genetic counseling for IDC and FDC will require collaboration between cardiologists and genetics professionals, and may also improve the recognition of FDC, the availability of support services, and overall outcomes for patients and families.
Abstract: Idiopathic dilated cardiomyopathy (IDC), a treatable condition characterized by left ventricular dilatation and systolic dysfunction of unknown cause, has only recently been recognized to have genetic etiologies. Although familial dilated cardiomyopathy (FDC) was thought to be infrequent, it is now believed that 30-50% of cases of IDC may be familial. Echocardiographic and electrocardiographic (ECG) screening of first-degree relatives of individuals with IDC and FDC is indicated because detection and treatment are possible prior to the onset of advanced, symptomatic disease. However, such screening often creates uncertainty and anxiety surrounding the significance of the results. Furthermore, FDC demonstrates incomplete penetrance, variable expression, and significant locus and allelic heterogeneity, making genetic counseling complex. The provision of genetic counseling for IDC and FDC will require collaboration between cardiologists and genetics professionals, and may also improve the recognition of FDC, the availability of support services, and overall outcomes for patients and families.

31 citations


Journal ArticleDOI
TL;DR: The Colored Ecological and Genetic Relational Map (CEGRM) is a conceptual approach and tool for presenting information about family and nonkin relationships and stories about inherited diseases in a simple, understandable form.
Abstract: The Colored Ecological and Genetic Relational Map (CEGRM) [pronounced see-gram] is a conceptual approach and tool for presenting information about family and nonkin relationships and stories about inherited diseases in a simple, understandable form. It combines information that can be derived from pedigrees, genograms, ecomaps, and social network analysis in a single, or series of, pictorial maps based on colors and shapes. The CEGRM is based on a social systems perspective, particularly emphasizing social exchange and resource theories. The CEGRM should be particularly useful in genetic counseling research with members of suspected cancer-risk families or families with other late-onset inherited diseases. A genetic counseling client comes with a social history and context as well as a genetic one. Client decision-making in terms of reproductive plans, therapeutic intervention, lifestyle behavior and sharing or withholding of genetic information frequently becomes enmeshed with preexisting psycho-social relationships among biological kin, affinal kin (in-laws) and fictive kin (friends who act as family). The CEGRM makes it easier to compare different types of social interactions between the client and his/her significant others and among family members on the same dimensions.

Journal ArticleDOI
TL;DR: This study examined the potential utility of genetic counseling services for Somali immigrants by investigating their perceptions of disability and recommended several modifications to traditional genetic counseling for Somali patients that also may be useful for populations that have similar beliefs.
Abstract: This study examined the potential utility of genetic counseling services for Somali immigrants by investigating their perceptions of disability. Five Somali women participated in structured interviews that assessed their perceptions of the nature, causes, and impact of disability, and care for persons with disabilities. Using a Heideggerian Hermeneutics qualitative method of analysis, six major themes emerged: (1) disability refers to both physical and mental conditions, with mental disability generally thought of first and as more severe; (2) in Somalia, the family cares for disabled family members, treating them as if they were "normal" (3) there are major cultural differences between Somalia and the United States in how persons with disabilities are treated; (4) caring for a person with a disability is stressful for the family; (5) Allah determines whether or not a child will be disabled, and this cannot be predicted or altered; and (6) family is the primary life focus, and therefore, risk of disability does not affect reproductive decisions. These themes suggest that traditional genetic counseling may have limited utility for Somali immigrants. We recommend several modifications to traditional genetic counseling for Somali patients that also may be useful for populations that have similar beliefs.

Journal ArticleDOI
TL;DR: Members of families afflicted by Li-Fraumeni syndrome interviewed in the Pediatric Oncology Department, Gustave Roussy Institute showed that families were psychologically fragile, that their interactions and thinking patterns were related to a family background plagued by the repeated occurrence of cancer, and was often marked by physical or psychological violence.
Abstract: To gain insight into the psychological, emotional, relational, and family problems of families afflicted by Li-Fraumeni syndrome, we interviewed members of five such families in the Pediatric Oncology Department, Gustave Roussy Institute, where at least one member of the family had been treated. These interviews showed that families were psychologically fragile, that their interactions and thinking patterns were related to a family background plagued by the repeated occurrence of cancer, and was often marked by physical or psychological violence. They had complex imaginary etiologic explanations, and showed an ambivalent willingness to learn about cancer and the risks involved. They expressed their fear of transmitting doom and death, posed questions about whether their parents would have had them had they known the test result, and about what their own attitude would be toward childbearing. Thus genetic testing awoke disconcerting and unsolved questions for them. These first results can contribute to the design of supportive interventions and future clinical research.

Journal ArticleDOI
TL;DR: A better understanding of how spiritual leaders view genetic counseling would provide an insight into how genetics and religious beliefs together play a significant role in shaping the decisions of those faced with abnormal pregnancies.
Abstract: The purpose of this study is to explore a theological perspective toward genetic counseling. A survey was sent to 207 ministers within the Evangelical Lutheran Church of America (ELCA), to determine their perspectives toward four different scenarios in a prenatal genetic counseling setting. The four different scenarios included situations involving Huntington disease, Down syndrome, trisomy 18, and anencephaly. Nearly all ELCA Lutheran pastors perceived genetic counseling as beneficial and useful and wanted to be involved in the decision-making process for whether or not to terminate the pregnancy. Their views toward termination of pregnancy varied depending on the severity of the genetic abnormality. Severity in this study was based upon life compatibility. As the severity of the genetic abnormality increased, the percentage of Lutheran pastors who viewed termination as an option increased from 23% (Down syndrome) to 62% (anencephaly). A better understanding of how spiritual leaders view genetic counseling would provide an insight into how genetics and religious beliefs together play a significant role in shaping the decisions of those faced with abnormal pregnancies.

Journal ArticleDOI
TL;DR: Peters et al. as mentioned in this paper described the experience of several months' ethnographic research by a genetic counselor researcher in a cancer treatment clinic and explored the meaning of cancer and cancer treatment for affected individuals and their support companions.
Abstract: This is a report of the experience of several months' ethnographic research by a genetic counselor researcher in a cancer treatment clinic. One goal of the exercise was to directly experience a method of qualitative research known as ethnography, which relies heavily on participant-observation, in an applied clinical setting. Another goal was to explore a previously undescribed research area in the genetic counseling literature, namely, the meaning of cancer and cancer treatment for affected individuals and their support companions. Here we report on a personal account of the experiences of conducting and publishing the research. The preliminary analysis and results of this field experience are published elsewhere (Peters et al. (2001) J Genet Counsel 10(2):151–168.). These initial findings support the feasibility of genetic counselors, who are trained in specific social science methodologies, to conduct qualitative research pertinent to genetic counseling practice.

Journal ArticleDOI
TL;DR: 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.
Abstract: 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.

Journal ArticleDOI
TL;DR: Three vignettes based on participants counseled as part of a clinical research program are presented, including a young unaffected woman at risk for a familial mutation, a newly diagnosed breast cancer patient, and a woman with recurrent ovarian cancer.
Abstract: We present three vignettes based on participants counseled as part of a clinical research program. These include a young unaffected woman at risk for a familial mutation, a newly diagnosed breast cancer patient, and a woman with recurrent ovarian cancer. Through the use of detailed vignettes, multifaceted issues that arise in cancer genetic counseling are highlighted.

Journal ArticleDOI
TL;DR: Thirty six members of the Prenatal Diagnosis Special Interest Group of the National Society of Genetic Counselors were interviewed about their use of informed consent documents for the genetic counseling component of their prenatal genetic counseling sessions and their perceptions of the utility and feasibility of such documents.
Abstract: Thirty six members of the Prenatal Diagnosis Special Interest Group of the National Society of Genetic Counselors were interviewed about their use of informed consent documents for the genetic counseling component of their prenatal genetic counseling sessions and their perceptions of the utility and feasibility of such documents. Major findings include (1) None of the genetic counselors currently used a consent document describing the genetic counseling component of the session itself; (2) Only three participants stated that they had ever used an informed consent document for this component of the session; (3) They disagreed about the importance and usefulness of such a document; (4) There was variability in their reported likelihood of using a document if one were available; (5) There was a fair amount of agreement about the types of information to include on an informed consent document for genetic counseling; over half of the sample endorsed 8 of 10 topics; and (6) Participants identified 10 obstacles to using such a document. Recommendations for genetic counseling practice, policy, and research are given.

Journal ArticleDOI
TL;DR: Awareness of depression in the differential diagnosis of Alzheimer disease is essential for genetic counselors seeing patients at risk for early-onset familial Alzheimer disease (EOFAD).
Abstract: Awareness of depression in the differential diagnosis of Alzheimer disease is essential for genetic counselors seeing patients at risk for early-onset familial Alzheimer disease (EOFAD). The genetic counselor is in a unique position to recognize depression as the cause of symptoms mimicking early-onset Alzheimer disease. While generating a family medical history, the counselor can evoke significant emotional history as well. Based on this information, appropriate referrals can be given for neurological and psychological evaluation. The counselor also serves to explain EOFAD and the benefits and limitations of genetic testing for each individual patient. Whether or not patients choose testing, they can benefit from correct diagnosis of troublesome, or even debilitating, symptoms that imitate symptoms of the feared hereditary disease.

Journal ArticleDOI
TL;DR: Practical guidance in writing successful letters of justification for cancer predisposition testing and insurance success stories in the area of cancer genetic testing are provided.
Abstract: The topic of insurance coverage and justification letters for cancer predisposition testing has been the subject of much discussion on the National Society of Genetic Counselors Cancer Special Interest Group (NSGC Cancer-SIG) listserv. Some counselors have stated that they have had difficulty in obtaining insurance coverage for their patients, while others have indicated that they would appreciate seeing examples of successful letters. The purpose of this paper is to provide practical guidance in writing successful letters of justification and to share insurance success stories in the area of cancer genetic testing.

Journal ArticleDOI
TL;DR: This collection of essays reflects the personal perspectives of several thoughtful Lutherans involved with human genetics and medical ethics and is intended to foster contemplation and discussion about the intersection of faith and genetic technology.
Abstract: The Evangelical Lutheran Church in America (ELCA), with roughly 5 million adherents in the United States, represents approximately 4% of the church-going population. It shares with its smaller, more conservative cousins (e.g., Missouri and Wisconsin synods) a commitment to education and social responsibility. This collection of essays reflects the personal perspectives of several thoughtful Lutherans involved with human genetics and medical ethics (absent is the direct narrative of a Lutheran with a genetic disorder). Published by the ELCA but not embodying official ELCA policy, it is intended to foster contemplation and discussion about the intersection of faith and genetic technology. How is God calling us to respond to the challenges before us? The answers to this question are intriguingly varied, a tribute to the writers and to the synod. The essays are organized into three sections: (1) Understanding Genetic Testing and Screening, (2) Engaging Worldviews and Proposing Alternatives, and (3) Confronting Professional Challenges . In Section 1, we encounter the obligatory genetics-in-a-nutshell (pediatrician Powell), densely packed but readable and reasonably accurate; 10 open-ended case studies (genetic counselor Schwandt) nicely illustrating many of the psychosocial issues, introducing the concept of genetic counseling and interspersed with pertinent passages from scripture and Luther’s writing; and a look at the biotechnology development industry (chief financial officer Varain), discussing ethical decision making in product development and investments. This section is greatly helped by sidebars, which, unfortunately, are little-used elsewhere. Section 2 offers four distinct approaches to the church’s integration of genetic technology. Theologian Peters poses two questions: “Is God responsible for genetic defects that cause suffering, and if so, should we try to improve the human situation through genetic planning? Second, if we try to improve the situation, would we be playing God and, if so, would we be commiting idolatry?” (p. 215). Although some have asserted that God creates genetic anomalies to show us our brokenness and dependence, Peters answers that regardless of the origin of suffering, we have an obligation as beneficent stewards to ease the distress of affected individuals. He notes a distinction between “playing God” with hubris, operating as if God were

Journal ArticleDOI
TL;DR: This chronological recounting of Nathaniel’s early life are the authors musings on “normality,” a history lesson on Dr Apert and Dr Tessier, the nature of mutations, and a discussion of the “superhero parent” role assigned to parents of children with disabilities.
Abstract: Jeanne McDermott’s Babyface is a book that makes me want to expand my vocabulary. While the subject is one that every genetic counselor is familiar with— the birth of a child with a disability and the effects on a family—the exceptional writing and personal philosophies of Ms McDermott put this book in a class of its own. Her unflinching honesty and keen sense of observation add layers to what could otherwise be a familiar story. In deference to the awe inspired by the beautiful prose of this book, I am committed to writing this review without using trite phrases such as heartbreaking, heartwarming, and poignant. While Ms McDermott’s book is all of these things, it is also revealing, deeply personal, honest, insightful, humorous, and touching. In addition to being a loving mother, Ms McDermott is a science writer and teacher and these experiences are evident throughout this book. This book is comprised of 13 chapters that chronicle the birth and life of Ms McDermott’s son Nathaniel who was born with Apert syndrome. The first 12 chapters are roughly chronological and deal with the 2 years following his birth. Topics include hospitalizations, surgeries, dealing with medical staff, early intervention classes, reactions of family members and neighbors, and the development of Nathaniel. While much of this information will be wellknown to counselors familiar with children with Apert syndrome, this content is enlivened by Ms McDermott’s skillful writing, profound observational ability, wry humor, and philosophical and historical digressions. Interspersed in this chronological recounting of Nathaniel’s early life are the authors musings on “normality,” a history lesson on Dr Apert and Dr Tessier (famous plastic surgeon), the nature of mutations, and a discussion (and ultimate rejection) of the “superhero parent” role assigned to parents of children with disabilities. The final chapter of this book is an update of where the family is now. Each chapter is prefaced by a paragraph written by the now 10-year-old Nathaniel that are typical of any 10-year-old boy (musing on his hockey team, brother, and soap box races). Interestingly, and to its credit, the book itself contains no photos. There are two small photos on the dustjacket—both of the author and Nathaniel. On the cover

Journal ArticleDOI
TL;DR: The author suggests than the use of an objective, special licensing authority not directly influenced by political or financial incentives, similar to the FDA in the United States, would be more responsible to move new, potentially risky medical procedures, such as PGD, from the area of research to clinical application.
Abstract: With every new diagnostic procedure that comes available, scientists and society at large need to take responsibility to examine the many moral, ethical, and practical considerations surrounding the procedure to ensure that its benefits outweigh the risks. Pure Selectionoffers an in-depth analysis of the development, current use, and future value of preimplantation genetic diagnosis (PGD), which is one such new procedure. PGD is a technique by which polar bodies (structures in the extracellular space of the egg containing unneeded DNA) or blastomeres (cells from an early embryo) can be tested for certain chromosome abnormalities or genetic conditions. The author begins by recounting the experience of the development of PGD in Sweden in great detail. The Swedish PGD experience started as a collaboration between an in vitro fertilization (IVF) specialist and a medical geneticist at two different medical centers which subsequently developed into a working group that debated whether PGD should be considered “experimentation,” “research,” or an “established clinical routine.” An eventual decision that PGD could be considered as beyond “experimentation” made PGD available for clinical use. The descriptions of the many conflicts, ethical debates, and set backs faced by this group are echoed later in the in-depth analysis the author provides of the ethical and practical pros and cons of PGD in its now worldwide use. Munthe describes the approval and application of PGD in Sweden as rushed and premature due in part to a biased assessment of its value and readiness for use, because the “national experts” chosen to assess whether PGD was fit for clinical use were the same individuals wanting to promote it. Despite the demonstrated value of PGD in many cases, Munthe criticizes the “fearless enthusiasm” with which the PGD specialists promoted this new technology as it has led to some misdiagnoses and ethical criticism of the field. He suggests than the use of an objective, special licensing authority not directly influenced by political or financial incentives, similar to the FDA in the United States, would be more responsible to move new, potentially risky medical procedures, such as PGD, from the area of research to clinical application.

Journal ArticleDOI
TL;DR: The Psyche and Helix: Psychological Aspects of Genetic Counseling by Seymour Kessler, PhD compendium as mentioned in this paper provides a systematic context in which to apply counseling skills to genetic counseling, including case transcription analysis, process analysis, client reactions and coping, psychological counseling, education and counseling, and nondirectiveness.
Abstract: Perhaps you find it difficult to garner enthusiasm for a book of Seymour Kessler’s essays that have already appeared in print. It took only one moment of reflection on the hundreds of times I have copied the essays for teaching purposes, or searched my files for those dog-eared copies, for me to become interested. This feeling was furthered by a vision of the compiled essays organized so that when I am trying to recall where Dr. Kessler makes a certain point, it is easy to access, let alone the opportunity to reflect on conceptual threads of his thoughts in one volume. Needless to say, I am more than enthusiastic about Robert Resta’s compendium,Psyche and Helix: Psychological Aspects of Genetic Counseling— Essays by Seymour Kessler, PhD. Most readers ofJournal of Genetic Counselingare quite familiar with Seymour Kessler’s writings. Six of the chapters in Psyche and Helixfirst appeared in theJournal and six others were originally published in the American Journal of Medical Genetics . The essays appear in chronological order to a certain degree; however, Mr. Resta chose to rearrange five of them, presumably because of the topic. The articles are otherwise unaltered from their original state and retain the second portion of their titles. Although no subject headings are provided, the topic categories might be as such: process analyses, client reactions and coping, psychological counseling, education and counseling, and nondirectiveness. In Mr. Resta’s preface, he seeks to dispel the myth that genetic counseling clients seek only information from genetic counselors and reminds the reader of the limitations of an educational model. He states that “good” genetic counseling requires that counselors have skills to understand the psychological needs of others, the meaning of clients’ behaviors, and to communicate that understanding in useful ways to clients. He presents Dr. Kessler’s articles as a systematic context in which to apply counseling skills to genetic counseling. The book begins with Dr. Kessler’s essays on case transcription analysis. These mark the start of his series of articles that bear the title preface, “Psychological aspects of genetic counseling.” While these chapters focus on the details of the cases presented, the overriding message to the reader is the importance of