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.     

The Role of Expectations in Effective Genetic Counseling

The goals for this investigation were to assess individuals' expectations for social support from genetic counselors, and to explore how these expectations influence perceptions of genetic counselor effectiveness. Two studies were conducted to address these goals. Results from the first study show that individuals most frequently expect genetic counselors to provide options and support following the disclosure of distressing test results, while data from the second study demonstrate that expectations play a significant role in individuals' assessment of genetic counselor effectiveness. These findings shed light on what individuals expect from genetic counselors following the disclosure of medically positive test results and inform how these expectations influence the success of genetic counseling sessions.     

A Qualitative Investigation of Somali Immigrant Perceptions of Disability: Implications for Genetic Counseling

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.     

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.     

The Complexity and Challenges of Genetic Counseling and Testing for Inflammatory Bowel Disease

Inflammatory bowel disease (IBD) is an umbrella term referring to two chronic idiopathic intestinal diseases: ulcerative colitis (UC) and Crohn’s disease (CD). Both UC and CD are characterized by immune activation that leads to symptoms, but the location, severity and behavior of the inflammation varies among individuals and in characteristic ways between UC and CD. A majority of patients with IBD are diagnosed in young adulthood, but the response to therapy is variable and difficult to predict, with some patients demonstrating a prompt and effective remission while others have continuous symptoms that do not respond to existing medical options. Surgery remains a frequent and necessary occurrence among patients with IBD, but in UC it is considered curative, while in CD only temporizing. Clinical observations, epidemiological studies, and molecular genetics have provided strong evidence that both genetic and environmental factors are important determinants for disease susceptibility. In recent years, a number of genes have been identified that associate with CD and UC, although the clinical utility of these discoveries in patients or in susceptible family members has not been determined. Nonetheless, it is hoped that these fundamental advances in our understanding of IBD will lead to better therapies for patients and prevention strategies for those who are susceptible. Effective incorporation of clinical genetic testing for IBD into practice will require appropriate education and 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.     

The Perceptions of Lutheran Pastors Toward Prenatal Genetic Counseling and Pastoral Care

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.     

Family Communication and Genetic Counseling: The Case of Hereditary Breast and Ovarian Cancer

In familial breast/ovarian cancer, the information that the proband is able to supply about other family members is of critical importance for genetic counseling. This frequently requires family communication. Forty-six women attending a cancer genetics clinic were interviewed as part of a longitudinal study. Nearly all reported affected maternal, rather than paternal relatives, which may indicate lack of awareness by women with paternal histories. There was also much more communication among female relatives. Mothers, where they were still alive, were key figures in supplying family information. Although the majority of the sample contacted at least one relative regarding counseling, most named a relative with whom they did not feel able to communicate on this subject. Probands balanced the perceived obligation of passing on information with that of not causing alarm. Communication, both obtaining and giving information, was impeded by adoption, divorce and remarriage, family rifts, and large age gaps between siblings.     

Developing Standard Recommendations (Guidelines) for Genetic Counseling Practice: A Process of the National Society of Genetic Counselors

The National Society of Genetic Counselors (NSGC) supports the development of practice recommendations (guidelines) in the field of genetic counseling. This paper reviews the basic components of NSGC genetic counseling practice recommendations as well as the process for formal adoption of such documents, as approved by the Board of Directors of the NSGC.     

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.     

Living with Multiple Endocrine Neoplasia Type 1: Decent Care-Insufficient Medical and Genetic Information A Qualitative Study of MEN 1 Patients in a Swedish Hospital

This qualitative study explores how 29 Swedish patients with Multiple Endocrine Neoplasia type 1 (MEN1) experience living with the condition, appraisal of the clinical follow-up program, and surveys their future expectations. The aim of this study is to build knowledge about this patient group in order to provide optimal care. The participants describe physical, psychological, and social limitations in their daily activities and how these limitations influence quality of life. Our findings indicate that a majority of patients have adjusted to their situation, describing themselves as being healthy despite physical symptoms and treatment. The participants received decent care in the clinical follow-up program, - however, greater effort should be put into patient information. These patients might benefit from genetic counseling. Health professionals involved should recognize their potential impact and influence on a patient’s ability to adjust to these circumstances. Antonovsky`s Sense of Coherence theory is used to discuss these findings.     

Predictors of Long-Term Exercise Engagement in Patients With Obsessive-Compulsive Disorder: The Role of Physical Activity Enjoyment

Most U.S. adults, even more so those with psychiatric conditions like obsessive-compulsive disorder (OCD), do not engage in the recommended amount of physical activity (PA), despite the wide array of physical and mental health benefits associated with exercise. Therefore, it is essential to identify mechanistic factors that drive long-term exercise engagement so they can be targeted. Using the science of behavior change (SOBC) framework, this study examined potential predictors of long-term exercise engagement as a first step towards identifying modifiable mechanisms, in individuals with OCD, such as PA enjoyment, positive or negative affect, and behavioral activation. Fifty-six low-active patients (mean age = 38.8 ± 13.0, 64% female) with a primary diagnosis of OCD were randomized to either aerobic exercise (AE; n = 28) or health education (HE; n = 28), and completed measures of exercise engagement, PA enjoyment, behavioral activation, and positive and negative affect at baseline, postintervention, and 3-, 6-, and 12-month follow-up. Significant predictors of long-term exercise engagement up to 6-months postintervention were baseline PA (Estimate = 0.29, 95%CI [0.09, 0.49], p = .005) and higher baseline PA enjoyment (Estimate = 1.09, 95%CI [0.30, 1.89], p = .008). Change in PA enjoyment from baseline to postintervention was greater in AE vs. HE, t(44) = −2.06, p = .046, d = −0.61, but endpoint PA enjoyment did not predict follow-up exercise engagement above and beyond baseline PA enjoyment. Other hypothesized potential mechanisms (baseline affect or behavioral activation) did not significantly predict exercise engagement. Results suggest that PA enjoyment may be an important modifiable target mechanism for intervention, even prior to a formal exercise intervention. Next steps aligned with the SOBC framework are discussed, including examining intervention strategies to target PA enjoyment, particularly among individuals with OCD or other psychiatric conditions, who may benefit most from long-term exercise engagement’s effects on physical and mental health.     

Genetic Evaluation and Counseling of Couples with Recurrent Miscarriage: Recommendations of the National Society of Genetic Counselors

The objective of this document is to provide recommendations for genetic evaluation and counseling of couples with recurrent miscarriage (RM). The recommendations are the opinions of the multidisciplinary Inherited Pregnancy Loss Working Group (IPLWG), with expertise in genetic counseling, medical genetics, maternal fetal medicine, internal medicine, infectious disease, cytogenetics, and coagulation disorders. The IPLWG defines RM as three or more clinically recognized consecutive or non-consecutive pregnancy losses occurring prior to fetal viability (<24 weeks gestation). These recommendations are provided to assist genetic counselors and other health care providers in clinical decision-making, as well as to promote consistency of patient care, guide the allocation of medical resources, and increase awareness of the psychosocial and cultural issues experienced by couples with RM. The IPLWG was convened with support from the March of Dimes Western Washington State Chapter and the University of Washington Division of Medical Genetics. The recommendations are U.S. Preventive Task Force Class III, and are based on clinical experiences, review of pertinent English-language published articles, and reports of expert committees. This document reviews the suspected causes of RM, provides indications for genetic evaluation and testing, addresses psychosocial and cultural considerations, and provides professional and patient resources. These recommendations should not be construed as dictating an exclusive course of medical management, nor does the use of such recommendations guarantee a particular outcome. The professional judgment of a health care provider, familiar with the circumstances of a specific case, should always supersede these recommendations.     

Case Report: Depression vs. Early-Onset Alzheimer Disease: The Genetic Counselor's Role

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.     

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

These recommendations describe the minimum standard criteria for genetic counseling and testing of individuals and families with fragile X syndrome, as well as carriers and potential carriers of a fragile X mutation. The original guidelines (published in 2000) have been revised, replacing a stratified pre- and full mutation model of fragile X syndrome with one based on a continuum of gene effects across the full spectrum of FMR1 CGG trinucleotide repeat expansion. This document reviews the molecular genetics of fragile X syndrome, clinical phenotype (including the spectrum of premature ovarian failure and fragile X-associated tremor-ataxia syndrome), indications for genetic testing and interpretation of results, risks of transmission, family planning options, psychosocial issues, and references for professional and patient resources. These recommendations are the opinions of a multicenter working group of genetic counselors with expertise in fragile X syndrome genetic counseling, and they are based on clinical experience, review of pertinent English language 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. The professional judgment of a health care provider, familiar with the facts and circumstances of a specific case, will always supersede these recommendations.     

Neurofibromatosis Type 1 in Genetic Counseling Practice: Recommendations of the National Society of Genetic Counselors

The objective of this document is to provide recommendations for the genetic counseling of patients and families undergoing evaluation for neurofibromatosis type 1 (NF1) or who have received a diagnosis of NF1. These recommendations are the opinions of a multi-center working group of genetic counselors with expertise in the care of individuals with NF1. These recommendations are based on the committee’s clinical experiences, a review of pertinent English language medical articles, and reports of expert committees. These recommendations are not intended to dictate an exclusive course of management, nor does the 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 an individual patient. Both Heather B. Radtke and Courtney D. Sebold contributed equally to this document.     

急性冠脉综合征患者合并抑郁障碍对生存质量的影响

为了了解急性冠脉综合征(ACS)患者合并抑郁障碍的现状及其对生存质量(QOL)的影响,对104名ACS患者应用一般情况调查表、HAD(d)、SF-36进行调查。结果显示31.73%的ACS患者合并抑郁障碍;ACS伴抑郁障碍SF-36各因子分均低于不伴抑郁障碍;HAD(d)总分与SF-36各因子分均呈负相关。因此ACS患者是抑郁障碍的易感人群,且抑郁障碍可降低ACS患者的QOL。     

Future Thinking in Disadvantaged Situations: The Role of Outcome Delays and Competitive Issues in Negotiation

Extant literature suggests that delaying the outcomes of negotiations can have salutary effects on the joint outcomes of participants. However, this literature has not examined the impact that outcome delays have on the success of individual negotiators. We argue that in situations where a player's preference on an issue involves a lack of legitimacy, an outcome delay may advantage the presentation of that issue. In addition, we suggest that this effect is more likely to be present in situations where competition is high, specifically, where the parties have few opportunities for cooperation. An experimental dyadic negotiation exercise involving 306 undergraduate participants was conducted to test these hypotheses. Results suggest that the introduction of an outcome delay helps to reduce the negative effects of a legitimacy disadvantage in the absence of alternate opportunities for collaboration.     

Active Recreation and Well-Being: The Reconstruction of the Self Identity of Women With Spinal Cord Injury

This qualitative study obtained the viewpoints of four women with spinal cord injury about the meaning of active recreation in their lives. Using the constant comparison method, common points of view were revealed within the narratives, leading to the finding that active recreation contributed to a positive self-concept. This facilitated the reconstruction of participants' identities as fit, confident, and social women actively engaged in their communities. Since participation in active recreation was found to be important to the self-identity of women who value physical activity, integrating this role into occupational therapy can facilitate the recovery of a desired self.     

The role of anxiety sensitivity in the relationship between posttraumatic stress symptoms and negative outcomes in trauma-exposed adults

Background: The development of posttraumatic stress symptoms (PTSs) following a trauma is related to impairment, diminished quality of life, and physical health issues. Yet it is not clear why some trauma-exposed individuals experience negative outcomes while others do not. The purpose of this study was to determine the role of several influential factors related to PTS severity and negative outcomes. Methods: One hundred and twenty-two trauma-exposed adults were administered the following self-report measures: the Posttraumatic Stress Disorder Checklist-Civilian, the Trauma History Questionnaire-Short, the Anxiety Sensitivity Index-3, Depression and Anxiety Stress Scale 21, Sheehan Disability Scale, World Health Organization Quality of Life-BREF, and an abbreviated Patient Health Questionnaire. Primary Results: PTS severity was positively correlated with depressive symptom severity (r = 0.54, p < 0.001), chronicity of the most distressing trauma (r = 0.21, p = 0.017), and number of traumas (r = 0.22, p = 0.012). Main effects were found for PTS severity (β = ?0.38, p < 0.01) and anxiety sensitivity (AS; β = ?0.39, p < 0.01) on quality of life. No interaction was found between PTS severity and AS with any negative outcome. PTS severity mediated the relationship between AS and physical health issues (0.05; 95% CI: 0.02–0.08). Conclusion: This study helps clarify the role of various factors in the relationship between trauma and negative outcomes. Clinical and research implications are discussed.