Genetic Counseling in the Era of Genomics: What’s all the Fuss about?

As genomic sequencing becomes more widely available in clinical settings for diagnostic purposes, a number of genetic counseling issues are gaining precedence. The ability to manage these issues will be paramount as genetic and non-genetic healthcare professionals navigate the complexities of using genomic technologies to facilitate diagnosis and inform patient management. Counseling issues arising when counseling for diagnostic genomic sequencing were identified by four genetic counselors with 10 years of collective experience providing genetic counseling in this setting. These issues were discussed and refined at a meeting of genetic counselors working in clinical genomics settings in Melbourne, Australia. Emerging counseling issues, or variations of established counseling issues, were identified from the issues raised. Illustrative cases were selected where pre- and post-test genetic counseling was provided in clinical settings to individuals who received singleton or trio WES with targeted analysis. Counseling issues discussed in this paper include a reappraisal of how genetic counselors manage hope in the genomic era, informed consent for secondary use of genomic data, clinical reanalysis of genomic data, unexpected or unsolicited secondary findings, and trio sequencing. The authors seek to contribute to the evolving understanding of genetic counseling for diagnostic genomic sequencing through considering the applicability of existing genetic counseling competencies to managing emerging counseling issues and discussing genetic counseling practice implications.     

What Do Genetic Counselors Learn on the Job? A Qualitative Assessment of Professional Development Outcomes

Professional development is an important goal for professionals in human service fields such as counseling, teaching, and nursing. However, there are relatively few published papers on this topic specific to genetic counselors, and no studies systematically examine the outcomes of their professional development. This study was designed to investigate genetic counselors’ perceptions of their post-degree learning and to compare themes in their learning to those of psychotherapist professional development models. Two hundred ninety-three genetic counselors completed the demographics portion of an anonymous online survey, and of these, 185 also responded to at least one of two open-ended items: What is the most important thing you have learned about yourself in your practice as a genetic counselor? and What advice would you give to genetic counseling students just starting their career? An interpretative content-analysis method was used to extract three major themes: Intrapersonal lessons, Interpersonal lessons, and Professional lessons. Training and practice implications and research recommendations are provided.     

Genetic Counselors’ Religiosity & Spirituality: Are Genetic Counselors Different from the General Population?

Although there is evidence that the religious beliefs of genetic counselors (GCs) can induce internal conflict in at least some genetic counseling scenarios, empirical research on the religiosity of GCs is limited. This study compares genetic counselors to a representative sample of the adult U.S. population on multiple religiosity measures. After controlling for several sociodemographic factors the percentage of GCs who report having a religious affiliation is similar to the general U.S., but GCs are less likely to affiliate with conservative Christian religions and are more likely to be Jewish. GCs are significantly less likely than the general U.S. population to: believe in god, attend religious services, pray, and believe in an afterlife even after controlling for relevant sociodemographic factors. Despite the lower levels of religiosity, a majority of GCs do report themselves to be moderately to highly spiritual. We explore potential reasons for religiosity differences as well as possible implications in the context of the GC scope of practice.     

Who Are the Next Generation of Genetic Counselors? A Survey of Students

Genetic counseling students were surveyed about their backgrounds, application process to genetic counseling programs, and career motivations and plans. Program directors from 27 accredited programs were asked to distribute 362 surveys to students. Fifty-two survey items assess demographics; sources of support for pursuing a genetic counseling career (information about genetic counseling, encouragement/discouragement from others); career motivations (reasons for applying and for becoming a genetic counselor); and career certainty. Two hundred and thirty-five usable surveys were returned (64.9% usable return rate). Most respondents were Caucasian females (mean age = 25.4 years). About 13% identified as ethnic minorities, and about one-third reported family histories of a genetic condition(s). Most respondents learned about the field in classes, and most were strongly encouraged by family and friends to pursue genetic counseling. Reasons rated as most important for becoming a genetic counselor included helping others and intellectual stimulation. Recruitment, training, and research recommendations are given.     

Exploring Traumas in the Development of Talent: What Are They,What Do They Do,and What Do They Require?

It has recently been argued that performers benefit from trauma (i.e., memorable challenges) during development. To deepen knowledge in this area, we explored perceived traumas in the development of 20 senior-international performers with a multimethods, temporal-based design. Results showed that perceived traumas were primarily sports based, recognized from onset of investment, associated with immediately negative but ultimately positive impact, and negotiated through skills that were brought to, rather than generated by, these experiences. The findings provide an interesting contrast to messages in other early trauma-focused research and promote focus on the process and mechanisms of responding to and recovering from traumatic experiences.     

Do Attitudes Affect Memory? Tests of the Congeniality Hypothesis

Social psychologists have usually hypothesized that attitudinal selectivity biases people's memory in favor of information that is congenial to their attitudes, because they are motivated to defend their attitudes against uncongenial information. However, our meta-analysis found that such effects have been only inconsistently obtained. One reason for these inconsistencies is that the defense of attitudes against attacks does not necessarily entail avoiding the uncongenial information. As shown by our experiments, people often expose themselves to attitudinally uncongenial information, attend to it, scrutinize it carefully, encode it accurately, and remember it fairly well, even though they dislike the information and are not persuaded by it. Given sufficient motivation and capacity, people mount an active defense that enhances memory for the information.     

Averting Dementia of the Alzheimer's Type in Women: Can Counselors Help?

Alzheimer's disease (AD) is the most common cause of dementia in late life, taking its greatest toll on women over age 80. This article provides an overview of AD, including risk factors and counseling strategies targeting risk. Counseling strategies address stress, cardiovascular health, social integration, depression, and holistic wellness.     

Are Genetic Counselors and GLBT Patients “on the Same Page”? an Investigation of Attitudes, Practices, and Genetic Counseling Experiences

Gay, lesbian, bisexual, and transgender (GLBT) individuals comprise a growing patient population in genetic counseling, yet literature on working with this population is scarce. This study sought to investigate GLBT patient experiences in genetic counseling and genetic counselor attitudes and practices when counseling GLBT patients. Twenty-nine GLB individuals who had previously participated in genetic counseling, and 213 genetic counselors completed online surveys. No individuals identifying as transgender participated. The patient survey assessed disclosure of orientation, discrimination in genetic counseling, and quality of services received. The counselor survey assessed comfort with and attitudes about counseling GLBT patients, disclosure of counselor orientation, and whether they counsel differently with this population. Every patient denied experiencing discrimination during their session, but 17% reported their genetic counselor assumed they were heterosexual, and 45% indicated intake forms were not GLBT-inclusive. A majority of counselors (91%) reported having counseled GLBT patients and indicated they were comfortable doing so (86%), and 72% indicated no differences in their counseling approaches with GLBT patients. Few counselors (17%) received training in GLBT issues, and most (61%) desired such education. Additional findings and practice and research recommendations are presented.     

Emerging Genetic Counselor Roles within the Biotechnology and Pharmaceutical Industries: as Industry Interest Grows in Rare Genetic Disorders,How are Genetic Counselors Joining the Discussion?

Traditionally, the biotechnology and pharmaceutical industry (BPI) has focused drug development at the mass-market level targeting common medical issues. However, a recent trend is the development of therapies for orphan or rare disorders, including many genetic disorders. Developing treatments for genetic disorders requires an understanding of the needs of the community and translating genomic information to clinical and non-clinical audiences. The core skills of genetic counselors (GCs) include a deep knowledge of genetics and ability to communicate complex information to a broad audience, making GCs a choice fit for this shift in drug development. To date there is limited data defining the roles GCs hold within this industry. This exploratory study aimed to define the roles and motivation of GCs working in BPI, assess job satisfaction, and identify translatable skills and current gaps in GC training programs. The authors surveyed 26 GCs working in BPI in the United States; 79 % work for companies focused on rare disorders. GC positions in BPI are growing, with 57 % of respondents being the first GC in their role. GCs in BPI continue to utilize core genetic counseling competencies, though 72 % felt their training did not fully prepare them for BPI. These data suggest opportunities for exposure to BPI in GC training to better prepare future generations of GCs for these career opportunities. GC satisfaction was high in BPI, notably in areas traditionally reported as less satisfying on the National Society for Genetic Counselors Professional Status Survey: salary and advancement opportunities. BPI’s growing interest in rare disorders represents a career opportunity for GCs, addressing both historic areas of dissatisfaction for GCs and BPI’s genomic communication needs.     

Dispositional Optimism in Chinese People: What Does the Life Orientation Test Measure?

The Life Orientation Test was back-translated to Chinese and administered to a sample of college students (N = 314) and a sample of normal adults (N = 306) along with measures of personality and symptoms. When subject to factor analysis, the positive items (representing optimism) and the negative items (representing pessimism) emerged as two separate factors. Empirically, optimism and pessimism were moderately correlated and had unique contributions to the explanation of personality and symptom measures, so that the total score of C-LOT was a better predictor of criterion measures than either optimism or pessimism alone. However, C-LOT's relationship with symptoms was eliminated after negative affectivity was controlled in the student sample, but not in the adult sample, thus suggesting some confounding with negative affectivity. Further research is required to improve the measurement of optimism in Chinese people and to clarify the relationship between optimism and pessimism.     

Exploring the Toolkit of Emotion: What Do Sadness and Anger Do for Us?

What do negative emotions do for people? We present a framework that defines the function of emotions as the degree to which discrete emotions result in better outcomes in particular types of situations. Focusing on sadness and anger, we review evidence related to the situations that elicit these emotions; the cognitive, physiological, and behavioral changes associated with the emotions; and the extent to which these changes result in demonstrably better outcomes in the type of situation that elicits the emotion. Sadness is elicited by perceived goal loss without possibility of restoration given current abilities and is associated with deliberative reasoning, reduced physiological activity, and behavioral expression. There is preliminary evidence suggesting that sadness can permit coping with loss, and that expression of sadness can recruit others to assist in goal attainment. Anger is elicited by perceived goal loss that can be prevented if an obstacle is overcome and is associated with heuristic reasoning, increased physiological activity, and behavioral expression. There is evidence that expression of anger prompts others to remove themselves as obstacles, and preliminary evidence that anger can promote overcoming obstacles and goal attainment. Like precision tools, specific emotions are best utilized to resolve particular problems.     

What is an extinction burst?: A case study in the analysis of transitional behavior

Among the tactics of experimental science discussed by Sidman (1960) were those used to study transitional behavior. Drawing from his insights, this review considers an often cited but infrequently analyzed aspect of the transition from reinforcement to extinction: the extinction burst. In particular, the review seeks to answer the question posed in its title. The generic definition of an extinction burst as an increase in response rate following the onset of extinction is found to be wanting, raising more questions than it answers. Because questions of definition in science usually come down to those of measurement, the answer to the title's question is suggested to be found in how behavior prior to extinction is maintained and measured, when and how extinction is introduced, and where in time and how behavior early in extinction is measured. This analysis suggests that a single, uniform, and precise definition of the extinction burst is misguided. Examining how each of these facets contributes to what has been described generically as the extinction burst is a small, but important, part of Sidman's methodological legacy to the experimental analysis of behavior.     

Change detection in the flicker paradigm: Do faces have an advantage?

Changes to a scene that occur during an eye movement, image flicker, or movie cut are difficult to detect. One way to measure change detection performance is with the flicker paradigm, where changes between two images are introduced during a brief blank screen, which causes the images to “flicker”. Ro, Russell, and Lavie (2001) presented flickering displays consisting of one face and five different common objects. They found that changes to faces were detected both more rapidly and more accurately than changes to objects and suggested that faces capture attention due to their biological significance. In the present studies, we found that changes to objects were more readily detected than changes to faces when displays consisted of an object among a number of faces. That is, a change detection advantage was observed for the “odd-one-out” in the array, regardless of its significance. Therefore, faces may not have a special status for change detection.