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.     

Impact of Huntington Disease Gene-Positive Status on Pre-Symptomatic Young Adults and Recommendations for Genetic Counselors

Huntington disease (HD) is an autosomal dominant, progressive neurodegenerative disorder for which there is no cure. Predictive testing for HD is available to asymptomatic at-risk individuals. Approximately half of the population undergoing predictive testing for HD consists of young adults (≤35 years old). Finishing one’s education, starting a career, engaging in romantic relationships and becoming a parent are key milestones of young adulthood. We conducted a qualitative study to explore how testing gene-positive for HD influences young adults’ attainment of these milestones, and to identify major challenges that pre-symptomatic young adults face to aid the development of targeted genetic counseling. Results of our study demonstrate that 1) knowing one’s gene-positive status results in an urgency to reach milestones and positively changes young adults’ approach to life; 2) testing positive influences young adults’ education and career choices, romantic relationships, and family planning; 3) young adults desire flexible and tailored genetic counseling to address needs and concerns unique to this population. Findings of this study contribute to the understanding of the impact of predictive testing for HD on young adults, and highlight issues unique to this population that call for further research, intervention and advocacy.     

Sex Education and Intellectual Disability: Practices and Insight from Pediatric Genetic Counselors

Intellectual disability (ID) with or without other anomalies is a common referral for genetic counseling. Sessions may include discussions of reproductive implications and other issues related to sex education. Patients with ID regularly meet barriers when trying to obtain sex education due to the misperceptions of others as being either asexual or that such education would promote inappropriate sexual behavior. In this pilot study, we surveyed genetic counselors to explore their experiences with being asked to provide sex education counseling and their comfort in doing so for patients with ID ages 9–17. Results were analyzed from 38 respondents. Caregivers and patients most frequently requested information on puberty, sex abuse prevention, and reproductive health. Genetic counselors were most comfortable when they could provide sex education counseling within the context of a particular condition or constellation of features. They were least comfortable when they lacked familiarity with the patient, caregiver, or the family’s culture. The most frequently cited barriers that prevented genetic counselors from providing sex education counseling were lack of time, lack of training, the patient’s ID being too profound, and a belief that genetic counselors should not be responsible for providing sex education counseling. While many respondents reported that providing sex education counseling is not considered within the scope of a genetic counselor’s practice, they also noted that patients’ families initiate discussions for which counselors should be prepared. Respondents indicated that resource guides specifically designed for use by genetic counselors would be beneficial to their practice. Genetic counselors have the opportunity to embrace the role of advocate and broach the issue of sexual health with caregivers and patients by directing them toward educational resources, if not providing sex education directly to effectively serve the needs of patients and caregivers.     

Effects of Anxiety on Novice Genetic Counseling Students’ Experience of Supervised Clinical Rotations

Supervised clinical experiences with patients comprise a critical component of genetic counseling student education. Previous research has found genetic counseling students tend to be more anxiety prone than the general population, and anxiety related to supervision has been found in genetic counseling and related fields. The present study investigated how anxiety affects the experience of supervision for genetic counseling students. Second year genetic counseling students were invited to participate through email invitations distributed via training directors of the 33 programs accredited at the time of the study by the American Board of Genetic Counseling. An initial online survey contained the trait scale of the State-Trait Anxiety Inventory to estimate anxiety proneness in this population and an invitation to participate in a 45-minute semi-structured phone interview focusing on students’ experiences of supervision during their clinical rotations. High and low trait anxiety groups were created using STAI scores, and the groups’ interview responses were compared using consensual qualitative research methodology (CQR; Hill 2012). The high anxiety group was more likely to describe problematic supervisory relationships, appreciate the supervisor’s ability to help them when they get stuck in sessions, and feel their anxiety had a negative effect on their performance in general and in supervision. Common themes included supervisors’ balancing support and guidance, the importance of feedback, ego-centric responses, and supervisors as focal points. The results of the present study are largely consistent with current literature. Further research findings and research, practice, and training recommendations are provided.     

Genetic Counselors’ Perceived Responsibilities Regarding Reproductive Issues for Patients at Risk for Huntington Disease

Research indicates that health care professionals’ attitudes may affect patients’ decisions regarding prenatal Huntington Disease testing, but few studies have sampled genetic counselors. In this qualitative study, genetic counselors described their experiences counseling individuals at risk for HD regarding reproductive decision-making. Five major research questions were investigated: 1) What are genetic counselor responsibilities? 2) What issues arise for patients and counselors? 3) How do counselors reconcile prenatal testing with presymptomatic testing? 4) To what extent are counselors’ initial expectations of at-risk patients’ beliefs and behaviors met? and 5) What advice would counselors offer to novice practitioners about working with this patient population? Fifteen genetic counselors experienced in counseling individuals at risk for HD participated in a semi-structured phone interview that yielded several themes. For example, participants identified their primary responsibility as information provision; less prevalent were psychosocial support and facilitating decision making. The most common ethical challenge was testing prenatally for HD which also results in presymptomatic testing of minors. Participants were divided about how directive to be in response to this ethical issue and about termination of a gene positive pregnancy.     

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.     

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.     

Genomic Testing: a Genetic Counselor’s Personal Reflection on Three Years of Consenting and Testing

Whole exome sequencing (WES) is increasingly used in research and clinical genetics as the cost of sequencing decreases and the interpretation improves. Genetic counselors need to be prepared to counsel a diverse patient population for this complex test. This commentary is a reflection of one genetic counselor’s experiences in counseling, consenting, and returning results for clinical and research WES for over 120 participants and patients. She reflects on how she overcame the initial challenges and concerns of counseling for WES and how her counseling evolved from a teaching based counseling model to an interactive patient-center counseling model. Her insights are offered to prepare other genetic counselors for the growing use of genomic testing.     

Genetic counseling for the next 25 years: Models for the future

Currently, two trends pose particular challenges for genetic counseling: (1) spin offs from the Human Genome Project leading to new diagnostic genetic tests far in advance of any cures; and (2) an increasing and diversified client population. These trends will lead to changes in both genetic service delivery systems and the development of alternative models of the genetic counseling process itself. Two models that could be adapted for genetic counseling are: the mutual participation model and the life history narrative model. Technological advances present ethical dilemmas and raise many questions. Already, improved detection of genes for predisposing conditions has entered clinical medicine requiring renewed ethical appraisals of genetic testing. Integration of genetic counseling (and required pre-screening education) into primary care settings involves time constraints and the involvement of health care personnel with less training in genetics. Alternative approaches are beginning to be discussed. Innovative genetic counselors with expanded visions of counseling goals and practices will play an increasingly important role in the future of genetic counseling.     

Genetic counseling for pregnant adolescents

The genetic counseling literature has a paucity of information on how to provide genetic counseling services to adolescents, especially those who are pregnant. The adolescent population should be viewed as a separate culture, complete with their own beliefs and viewpoints, which are dependent upon the developmental growth tasks of puberty. The completion of these tasks is complicated by pregnancy, which has its own set of developmental goals. The adolescent struggle with developmental goals interferes with the ability to identify consequences, predict future outcomes, and communicate self-revealing statements or decisions effectively. Instead, the adolescent has an egocentric frame of reference and seeks peer approval. The genetic counseling dilemmas presented by pregnant adolescents are illustrated through two case reports. A model based on our own experience and a literature review for successful counseling of adolescents is presented, and utilizes the foundation of trust, patience, and nonjudgmental behavior. Techniques that address the adolescent's concern for autonomy and peer approval are important, and can be achieved through nonthreatening, open-ended questions that promote self-expression. Incorporation of these techniques in genetic counseling and in graduate training will enhance genetic counseling services to the adolescent population.     

Genetic Counselors’ Experiences with Adolescent Patients in Prenatal Genetic Counseling

Adolescents comprise a portion of women who present to genetic counselors prenatally. In this study, prenatal genetic counselors (N = 128) were surveyed regarding their perceptions of genetic counseling sessions for adolescent (ages 13–19) and adult (ages 20–34) patients. Counselors perceived differences in methods used to communicate risk information for adolescent versus adult populations. Respondents reported that it is more difficult for adolescents to understand prognostic information than adults. They also noted differences between adult and adolescent populations with respect to the people who typically accompany the patient to the session. Respondents stated that adolescents were accompanied by a parent, friend, or sibling, which differed from adults who reportedly were accompanied by a significant other, father of the pregnancy, or by no one. These findings suggest it is important to recognize that adolescent patients are in a unique stage of their development which may influence a prenatal genetic counseling session.     

Counseling Adolescents and the Challenges for Genetic Counselors

Genetic counselors may have an important role in helping the adolescent make an informed decision with regard to genetic testing and in helping them to adjust to genetic risk information. However, counseling techniques that are used with adults may not be always be suited to the adolescent population. Adolescence is a time of development during which separation from the family and formation of identity is achieved. The process of this development may impact the genetic counseling relationship. Family relationships may have a strong influence on the client's decision to have genetic testing. Additionally, it may be difficult to engage the client as adolescents may not have the ability to think abstractly and consider the short and long term consequences of genetic testing. It is helpful therefore to discuss the counseling process and techniques that may be useful when counseling these clients. This paper presents two case studies that illustrate some of the difficulties that may occur when counseling adolescents for genetic testing. The authors' have reflected on their clinical experience with these clients and this is presented here to add to the growing literature on this subject.     

How do Physicians Decide to Refer Their Patients for Psychiatric Genetic Counseling? A Qualitative Study of Physicians’ Practice

Psychiatric genetic counseling (PGC) is an emerging specialty discipline within the genetic counseling profession. A specialist PGC service was founded in 2012 in Vancouver, Canada, and though patient benefits have been demonstrated, many physicians do not regularly refer patients to the service despite awareness of its availability. We conducted a qualitative study involving semi-structured telephone interviews with Vancouver-based physicians who were aware of the PGC service to explore this phenomenon. Interviews were audio-recorded, transcribed verbatim, coded, and analysed for emergent themes. Consistent with a grounded theory approach, constant comparison was employed throughout data collection and analysis. Analyses of interviews conducted with 12 physicians revealed that referral practices were informed by perceptions about the purpose of PGC and interpretation of patient cues. Physicians perceived PGC as an information-focused intervention, and considered referral when patients explicitly expressed desire for information about recurrence risk or etiology that they felt unable to adequately address themselves. Even when physicians identified psychotherapeutic benefits of PGC, patient needs of this nature were not perceived as cues prompting referral to PGC. These data suggest that further work is necessary to position PGC in physicians’ minds as a service that could potentially benefit most individuals with psychiatric disorders and their families, and that it encompasses more than information provision. It is important to increase physicians’ awareness of the complementary role that genetic counselors can play to that of the physician in providing psychotherapeutically oriented counselling about illness etiology.     

The Genetics Journey: A Case Report of a Genetic Diagnosis Made 30 Years Later

Mandibulofacial dysostosis with microcephaly (MFDM) is a rare autosomal dominant condition that was first described in 2006. The causative gene, EFTUD2, identified in 2012. We report on a family that initially presented to a pediatric genetics clinic in the 1980s for evaluation of multiple congenital anomalies. Re-evaluation of one member thirty years later resulted in a phenotypic and molecularly confirmed diagnosis of MFDM. This family’s clinical histories and the novel EFTUD2 variant identified, c.1297_1298delAT (p.Met433Valfs*17), add to the literature about MFDM. This case presented several genetic counseling challenges and highlights that “the patient” can be multiple family members. We discuss testing considerations for an unknown disorder complicated by the time constraint of the patient’s daughter’s pregnancy and how the diagnosis changed previously provided recurrence risks. Of note, 1) the 1980s clinic visit letters provided critical information about affected family members and 2) the patient’s husband’s internet search of his wife’s clinical features also yielded the MFDM diagnosis, illustrating the power of the internet in the hands of patients. Ultimately, this case emphasizes the importance of re-evaluation given advances in genetics and the value of a genetic diagnosis for both patient care and risk determination for family members.     

Motivation to Pursue Genetic Testing in Individuals with a Personal or Family History of Cardiac Events or Sudden Cardiac Death

Genetic testing is becoming increasingly available for cardiac channelopathies, such as long QT syndrome and Brugada syndrome, which can lead to sudden cardiac death. Test results can be used to shape an individual’s medical management and to identify at-risk family members. In our qualitative study, all participants had a personal or family history of a diagnosed cardiac arrhythmia syndrome or sudden cardiac death. Open-ended interviews were conducted individually and in focus groups. Interviews were audio recorded, transcribed verbatim, and analyzed using a qualitative grounded-theory approach. Of 50 participants, 37 described their motivations for pursuing genetic testing for long QT syndrome or another cardiac channelopathy. Participants’ motivations included: to find an explanation for a family member’s sudden death, to relieve uncertainty regarding a diagnosis, to guide future medical management, to allay concern about children or other family members, and to comply with recommendations of physicians or family members. Perceived reasons not to pursue genetic testing included denial, fear, and lack of information. The genetic counseling and informed consent process can be enhanced by understanding and addressing an individual’s internal and external motivations either for or against pursuing genetic testing.     

“I Don’t Want to Be an Ostrich”: Managing Mothers’ Uncertainty during BRCA1/2 Genetic Counseling

Families who face genetic disease risk must learn how to grapple with complicated uncertainties about their health and future on a long-term basis. Women who undergo BRCA 1/2 genetic testing describe uncertainty related to personal risk as well as their loved ones’, particularly daughters’, risk. The genetic counseling setting is a prime opportunity for practitioners to help mothers manage uncertainty in the moment but also once they leave a session. Uncertainty Management Theory (UMT) helps to illuminate the various types of uncertainty women encounter and the important role of communication in uncertainty management. Informed by UMT, we conducted a thematic analysis of 16 genetic counseling sessions between practitioners and mothers at risk for, or carriers of, a BRCA1/2 mutation. Five themes emerged that represent communication strategies used to manage uncertainty: 1) addresses myths, misunderstandings, or misconceptions; 2) introduces uncertainty related to science; 3) encourages information seeking or sharing about family medical history; 4) reaffirms or validates previous behavior or decisions; and 5) minimizes the probability of personal risk or family members’ risk. Findings illustrate the critical role of genetic counseling for families in managing emotionally challenging risk-related uncertainty. The analysis may prove beneficial to not only genetic counseling practice but generations of families at high risk for cancer who must learn strategic approaches to managing a complex web of uncertainty that can challenge them for a lifetime.     

Have You Ever Googled a Patient or Been Friended by a Patient? Social Media Intersects the Practice of Genetic Counseling

Patients and healthcare providers are becoming increasingly connected via social media, bringing new opportunities and challenges. Direct connection can occur between patients and providers using online tools such as Facebook and LinkedIn. In addition, providers can gather information about patients using a search engine such as Google, referred to as patient-targeted Googling (PTG). An online 54-item survey was used to gain information on (1) how and to what extent genetic counseling students and genetic counselors connect directly with patients via social media sites, and (2) gather information on providers using PTG. Four hundred genetic counseling students and genetic counselors participated in the survey. The majority of respondents (88.9%; n?=?344/387) find it is never or rarely acceptable to interact with current patients via social media sites; however, 27.7% (n?=?110/397) have visited a patient’s social media site. Gathering information for patient care was the most commonly reported reason (76.8%; n?=?43/56). Thirty-three percent (n?=?130/394) have considered searching online or actually searched online for information about a patient. Curiosity was the most common reason (92.7%; n?=?114/123); although, respondents also used PTG to obtain contact information and to prepare for patient sessions. Our study supports the need for development and dissemination of professional guidelines to serve as a valuable resource for practicing genetic counselors and genetic counseling training programs.     

Readiness for Change: Involving the Family with Adolescents in Residential Settings

Adolescence is a pivotal time in human development and can be a challenging time for individuals to learn to regulate emotions, while also balancing biopsychosocial changes. The family plays a key role in an adolescent’s development. Thus, it is imperative for families to remain involved when adolescents are in residential treatment for emotional or behavioral issues. In this paper, we explore the benefits of, and methods for, increasing the identified patient’s (i.e., the adolescent’s) and the family’s readiness for change. The process of increasing family engagement in residential treatment is considered through the lens of the Stages of Change model. Barriers practitioners may face with adolescents and their families are also addressed.     

“I Didn’t Know It Existed Before You Called”: Protestant Clergy Experience, Education and Perceptions Regarding Genetics

Despite the intrinsic role religious/spiritual (hereafter, R/S) beliefs have in patient clinical decision-making and crisis coping, there is little research exploring the relationship that exists between clergy (professionals who provide R/S counsel and guidance) and genetic counseling patients. This qualitative, exploratory study was designed to explore Protestant clergy (N?=?8) perceptions of and experience with genetics-related issues. Data analysis revealed that a wide range of R/S perceptions regarding genetics-related issues exist within Protestantism, Protestant clergy have a basic understanding of genetic testing and conditions, and while directive counseling is inherent to Protestant clergy counseling, there appears to exist two opposing styles: unbiased and biased. Based on this information, there are two main implications for genetic counseling clinical practice. First, R/S assessments need to be increasingly implemented into genetic counseling sessions, so that the psychosocial needs of patients with specific R/S beliefs can be identified and addressed. An increase in R/S assessments may be accomplished by increased exposure in genetic counselor training, continuing education opportunities, and by establishing relationships with board-certified, professional chaplains. Second, genetic counselors can influence the genetic education and experience of clergy by raising awareness within their own R/S assemblies. Doing so can also serve to further educate genetic counselors in the R/S beliefs of their own traditions, thus increasing sensitivity, empathy and the quality of care provided.