Assessment of Current Genetic Counselor Practices in Post-Visit Written Communications to Patients

Providing patients with post-visit written communication (PVWC) is a long-standing component of genetic counseling. However the depiction of this practice in today’s clinical landscape is limited. To better describe this practice, we surveyed practicing clinical genetic counselors to ask if they send post-visit communications to patients and if so, what are the types, the average length, and the average time spent writing. They were also asked the perceived purpose of providing PVWC, if/how the practice has changed over time, and factors influencing the practice. Eighty three percent (233/280) of participants reported sending patients PVWC. Of those, 93% sent at least one communication written in patient-friendly language. The type of communication varied by specialty. Prenatal genetic counselors were less likely to send patient-specific letters and hybrid letters (defined as letters with content intended for both a physician and a patient) than those in cancer genetics (p = 0.010, p = 0.001, respectively) or pediatric genetics (p = 0.001, p = 0.004, respectively). Prenatal genetic counselors spent less time on average writing post-visit communications (19.0 min) relative to those in cancer and pediatric genetics (30.6 min, p = 0.027 and 37.7 min, p = 0.001, respectively). The most commonly cited purpose for sending PVWC was to provide patients a formal account of what happened during the appointment. These data suggest PWVC are still regularly sent to patients but the practice is variable and is influenced by numerous factors including specialty, years of experience, and time constraints.     

Medical Genetics and Genetic Counseling in Chile

In the South American Republic of Chile genetic counseling is not currently recognized as an independent clinical discipline, and in general is provided by physicians with training in clinical genetics. At present only one genetic counselor and 28 clinical geneticists practice in this country of over 16 million inhabitants. Pediatric dysmorphology constitutes the primary area of practice in clinical genetics. Although the country has a universal health care system and an adequate level of health care, genetic conditions are not considered a health care priority and there is a lack of clinical and laboratory resources designated for clinical genetics services. Multiple educational, cultural and financial barriers exist to the growth and development of genetic counseling services in Chile. However, during the last 10 years increased awareness of the importance of identifying individuals at risk for inherited cancer syndromes led to growing interest in the practice of cancer genetics.     

Intersubjectively oriented,time-limited psychotherapy with children: how does the therapist evaluate the therapeutic process and what are the therapist’s tasks?

Based on the therapist’s evaluations of three therapies, this research aims to study the therapeutic process in intersubjectively oriented, time-limited psychotherapy with children. A primary objective is to further develop the therapy method. The study comprises therapies with children 6–11 years of age, who had experienced difficult family situations. Each child received 12 therapy sessions. The number of therapy sessions with children and parents was agreed upon beforehand, and the therapeutic objectives were approved by the parents. Each of the therapy processes were evaluated by the therapist by answering three questions and filling in three forms after each therapy session. The forms were: The Feeling Word Checklist; an alliance form for the child; and a process form. The therapeutic alliance and the behaviour of the therapist during the therapy sessions are discussed on the basis of the total material. The following main tasks for the child therapist emerged: structuring the therapy sessions; following the child’s initiatives; participating and cooperating with the child; exploring the child’s expressions; and understanding and regulating emotions.     

Long-term Evaluation of Genetic Counseling Following False-Positive Newborn Screen for Cystic Fibrosis

This cross-sectional mixed method study was a long-term follow-up evaluation of families who participated in an earlier survey of their understanding of cystic fibrosis (CF) genetics and their infants’ false-positive CF newborn screening (NBS) results. Thirty-seven of the original 138 parents participated in the follow-up telephone survey. Results showed parents who received genetic counseling at the time of their infants’ diagnostic sweat tests had significantly higher long-term retention of genetic knowledge than those without genetic counseling. However, both groups still had misconceptions and lacked accurate information about the actual risk associated with being a CF carrier. Most parents either had already informed (65%) or planned to inform (19%) their children about the child’s carrier status. Mean child age at the time of disclosure was 9.2 years. Situational prompts were the most common reasons for informing their children. Neither parental knowledge, medical literacy, nor parental education predicted whether parents informed their children about their carrier status. False-positive NBS results for CF were not associated with parental perceptions of child vulnerability 11–14 years after the testing. Although the sample from this study was small, these findings underscore the benefits of genetic counseling at the time of the diagnostic sweat test and offer information that can assist parents in talking with their children about the implications of having one CFTR mutation.     

Obsessive-Compulsive Disorder: The Process of Parental Adaptation and Implications for Genetic Counseling

Obsessive-compulsive disorder (OCD) has primarily pediatric onset and well-documented unique impacts on family functioning. Limited research has assessed the understanding that parents of children with OCD have of the etiology of the condition, and there are no data regarding potential applications of genetic counseling for this population. We recruited 13 parents of 13 children diagnosed with OCD from the OCD Registry at British Columbia Children’s Hospital, and conducted qualitative semi-structured telephone interviews to explore participants’ experiences with their child’s OCD, causal attributions of OCD, and perceptions of two genetic counseling vignettes. Interviews were audio-recorded, transcribed, and analyzed using elements of grounded theory qualitative methodology. Analysis revealed key components and contextual elements of the process through which parents adapt to their child’s OCD. This adaptation process involved conceptualizing the meaning of OCD, navigating its impact on family dynamics, and developing effective illness management strategies. Adaptation took place against a backdrop of stigmatization and was shaped by participants’ family history of mental illness and their child’s specific manifestations of OCD. Parents perceived genetic counseling, as described in the vignettes, as being empowering, alleviating guilt and blame, and positively impacting treatment orientation. These data provide insight into the process of parental adaptation to pediatric OCD, and suggest that genetic counseling services for families affected by OCD may help facilitate adaptation to this illness.     

Elucidating Genetic Counseling Outcomes from the Perspective of Genetic Counselors

Outcomes in the field of genetic counseling have not been well-defined or categorized, despite pressures to provide evidence-based measures in all areas of healthcare. This study describes a process to elucidate and categorize a wide-ranging set of outcomes as characterized by diverse groups of practicing genetic counselors. Semi-structured focus groups were conducted at the National Society of Genetic Counselors 2013 NSGC Annual Education Conference during an educational breakout session. A general inductive qualitative research approach was utilized to code focus group notes, categorize them into themes, and compare them across specialty groups. A total of 107 individuals participated in 14 focus groups, consisting of specialists in cancer (n = 20), general genetics (n = 40), prenatal genetics (n = 11), and “other” (n = 36). Of the twelve genetic counseling outcomes themes identified, the most common across focus groups included: 1) appropriateness of testing and accuracy of results interpretation; 2) psychosocial outcomes; 3) adherence to or receipt of appropriate medical management; and 4) patient and provider knowledge. Data assessed by specialty demonstrated similarities in outcomes themes, suggesting that a common set of genetic counseling outcomes would likely be appropriate to cover the majority of needs for the profession. Results can serve as a platform from which to build a more well-defined and comprehensive set of outcomes.     

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.     

Ethnic Differences in Parental Perceptions of Genetic Testing for Deaf Infants

As genetic testing becomes an integral part of the evaluation of deaf infants and children, it is important to understand parental views on genetic testing. The purpose of this study is to examine parental reasons for, and beliefs about, genetic testing for deafness in early-identified infants, and to determine if they differ as a function of ethnicity. We present baseline data collected from 56 Caucasian, 59 Hispanic, and 24 Asian parents of deaf children participating in a longitudinal, prospective study on genetic testing for connexin-related deafness. The overall finding is that reasons for, and beliefs about, genetic testing for deafness varied as a function of ethnicity. Virtually all parents sought genetic testing to understand why their child is deaf. However, Asian and/or Hispanic parents were more likely than Caucasian parents to view family planning, helping with their child's medical care, and helping the family as other important reasons for testing, and were more likely than Caucasian parents to perceive genetic testing to be useful for these purposes. Asian and Hispanic parents were more likely than Caucasian parents to perceive genetic testing in harmful terms. Genetic testing fulfills a cognitive need for parents to understand why their child is deaf, yet differences in responses suggest that Asian and Hispanic parents may seek testing for other purposes. Understanding different perspectives on genetic testing for deafness will enhance genetic counselors' cultural competence and facilitate the pre-test genetic counseling session.     

Iceland—Genetic Counseling Services

This brief report aims to give an overview of the history and current status of clinical genetics services in Iceland and specific genetic counseling considerations for Iceland’s population. Presently, there are two part time medical geneticists and one full time genetic counselor with an MSc education from Cardiff, within the Department of Genetic and Molecular Medicine, based in Iceland’s only tertiary healthcare facility, Landspitali, the National University Hospital. An oncologist (20 %) also contributes to the cancer genetic counseling service. In addition, a pediatric medical geneticist has a 25 % appointment at the Children’s Hospital. No other health care organization offers genetic counseling, and there are no private genetic counseling services.     

Parents’ and psychotherapists’ goals prior to psychodynamic child psychotherapy

In order to explore goals of parents and psychotherapists prior to child psychotherapy, the following questions were asked: (1) How are goals for psychotherapy formulated? (2) How can similarities and differences between parents’ and psychotherapists’ goals be understood? Questionnaires regarding psychodynamic child psychotherapies (n = 33) with parallel parental work were analysed using qualitative methodology. The child psychotherapists’ goals were often connected to the intrapsychic and relational development of the child. The parental therapists formulated goals focused on providing support to parents. The parents’ goals, on the other hand, concerned to a great extent giving the child help and to a lesser degree receiving help for themselves. They expressed their expectations concerning the child’s psychological development with a more everyday use of language, often with an emphasis on general psychological wellbeing. The study also indicated that parents had limited knowledge about the therapy’s implementation and framework. Some clinical conclusions could be made. Negotiating goals prior to parental and child psychotherapy can help create realistic expectations and promote a beneficial therapy situation.     

Motivational Antecedents and Consequences of the Mother–Adolescent Communication

Communication between parents and their children represents an important factor of family socialization. Nevertheless, little is known about why parents communicate in different ways and how these qualitative differences in parent–child communication may affect the child. Building on self-determination theory, the present study focuses on motivational antecedents of need-supportive communication as a function of parental child-related beliefs (i.e., long-term goals that parents have set for their children’s future, and parental child-related behavior expectations in terms of parental dissatisfaction or satisfaction with child behavior). Moreover, the effect of perceived need-supportive communication on children’s prosocial behavior and (externalizing and internalizing) behavioral difficulties will be addressed. Three waves of data from 1125 mothers and adolescents aged between 10 and 17 years were analyzed using growth-curve modeling. We found linearly increasing trajectories in extrinsic parental goals for children and dissatisfaction with child behavior, and decreasing trajectories of need-supportive communication. Individual differences do not vary significantly over time. In addition, holding extrinsic parental goals for children positively predicts parents’ dissatisfaction with their child’s behavior and negatively predicts need-supportive communication. Parents’ dissatisfaction with their child’s behavior also contributes to decreasing need-supportive communication. As expected, need-supportive communication predicts prosocial behavior and externalizing behavioral difficulties. When need-supportive communication decreases over time, both externalizing and internalizing behavioral difficulties increase. Furthermore, the effect of mothers beliefs on adolescents socioemotional development was mediated through perceived mother’s communication quality. These results suggest that parental child-related beliefs are important motivational antecedents of parent–child communication that may prevent behavioral difficulties.     

Erziehungsfähigkeit in familienrechtlichen Begutachtungen

Parental competence describes the multidimensional ability of parents to take responsibility for their children and to bring them up. There is a multitude of criteria and guidelines for the assessment of parental competence in the context of family court procedures, when a child’s well-being is at risk or in the case of divorce and separation. However, little is known about what forensic experts in Germany understand by the term parental competence. In a nationwide study  600 forensic experts were questioned about the contents and their methods of assessment concerning parental competence. Of the 104 participating psychologists and doctors (response rate 17.3 %) 90 % follow a schema while assessing parental competence and include the factors interaction and communication skills, care and nurturing, relationship skills, attachment capabilities, teaching rules and complying with them, and the ability to foster a child. While 99 % conduct a talk with the mother, 98 % conduct at least one talk with the father; 27 % talk to both parents together, 94% talk to the child systematically, 84 % use free play and 78 % combine playing and talking. The most frequently mentioned third persons include social workers, new partners, nursery school teachers and child protective services. Approximately 77 % use standardized tests. Although the study revealed a large heterogeneity in the procedures used by forensic experts, there is more accordance concerning the understanding of the term parental competence and the assessment procedure. Possibilities to assess parental competence in more general and standardized terms are discussed.     

Child Involvement in Interparental Conflict and Child Adjustment Problems: A Longitudinal Study of Violent Families

This study examined whether child involvement in interparental conflict predicts child externalizing and internalizing problems in violent families. Participants were 119 families (mothers and children) recruited from domestic violence shelters. One child between the ages of 7 and 10 years in each family (50 female, 69 male) completed measures of involvement in their parents’ conflicts, externalizing problems, and internalizing problems. Mothers completed measures of child externalizing and internalizing problems, and physical intimate partner violence. Measures were completed at three assessments, spaced 6 months apart. Results indicated that children’s involvement in their parents’ conflicts was positively associated with child adjustment problems. These associations emerged in between-subjects and within-subjects analyses, and for child externalizing as well as internalizing problems, even after controlling for the influence of physical intimate partner violence. In addition, child involvement in parental conflicts predicted later child reports of externalizing problems, but child reports of externalizing problems did not predict later involvement in parental conflicts. These findings highlight the importance of considering children’s involvement in their parents’ conflicts in theory and clinical work pertaining to high-conflict families.     

Cancer Risk Counseling: How Is It Different?

Fifty-six of 80 (70%) full members of the National Society of Genetic Counselors with interest in cancer genetics responded to a 1994 survey regarding their cancer risk counseling practices. This study was undertaken to describe cancer risk counselors and the services they provide and to identify possible differences from general genetic counseling that warrant further study. Of 56 respondents, 41 (75%) were providing CRC. The components of CRC programs are described. Our results found significant differences between CRC and general genetic counseling in terms of training and experience of genetic counselors providing CRC and length and number of counseling sessions per consultand. 51% of respondents had 1–2 years of working in CRC, compared to 17% with 1–2 years experience in genetic counseling (p<0.05). Over one-third had 10 or more years genetic counseling experience. Counselors were more likely to see individuals at risk for cancer for longer counseling sessions (p<0.05) and for additional sessions (p<0.05).     

An Assessment of Genetic Counseling Services for Individuals with Multiple Sclerosis

Multiple sclerosis (MS) affects up to 1/500 Canadians. The University of British Columbia MS Clinic (UBC Clinic) is the only MS clinic in Canada (and likely internationally) that routinely offers genetic counseling to patients and their families. A typical session includes the collection of family history and demographic data, discussion of the inheritance of MS, interpretation of family-specific recurrence risks and psychosocial counseling. The aims of this study were to explore patients’: 1) expectations of the genetic counseling session; 2) understanding of the etiology of MS (both pre and post-session); and 3) post-session perceptions of genetic counseling. A two-part questionnaire to assess genetic counseling services was distributed before and after sessions to all consenting patients seen during the period October 1, 2008 to February 28, 2009 inclusive. Sixty-two completed questionnaires were analysed. Genetic counseling was found to significantly increase the number of individuals who were able to correctly identify the etiology of MS (p?<?0.001). Patient satisfaction with genetic counseling was high, with an average satisfaction score of 32.4/35 (92.6 %). Of those who provided comments (n?=?42/60) regarding the usefulness of the genetic counseling session, 95.2 % reported it useful (n?=?40/42). Findings suggest that genetic counseling is effective in increasing patients’ knowledge of the etiology of MS and is viewed by patients as a useful service. Based on the high level of positive feedback regarding genetic counseling by the study sample, this study suggests that the services provided by genetic counselors may be beneficial for patients with MS seen in other centers.