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.     

Patient Perspectives on Intimate Partner Violence Discussion during Genetic Counseling Sessions

Intimate partner violence (IPV) is a major health concern in the United States (ACOG 2013). The World Health Organization (WHO) describes IPV as any physical, sexual, psychological harm by a current or former intimate partner (WHO 2016). Due to the psychosocial depth and nature of discussions within genetic counseling sessions, patients may disclose and/or discuss IPV as it relates to sexual well-being, reproductive and overall health. This study aims to assess the role for IPV screening, counseling and intervention in genetic counseling practice by investigating the incidence, experiences and attitudes about IPV among genetic counseling patients. Patients receiving genetic counseling at an urban metropolitan hospital were anonymously surveyed about experiences and perspectives on IPV as a topic of discussion during genetic counseling sessions. Among 60 eligible patients, 50 completed the survey (49 females, 1 male, of which, 5 identified as LGBT) ages 20 to 66. The incidence of IPV in this group was 16.0 % (n = 8). Majority of participants had never been asked about IPV by a healthcare provider (n = 32; 64.0%), would have felt comfortable answering questions about IPV by their healthcare provider (n = 34; 68.0%), and would have felt comfortable answering questions about IPV by their genetic counselor (n = 39; 78.0%). Perspectives from all participants, notably those with IPV history, provided insights to the role of genetic counselors in areas for IPV screening and counseling training.     

Online Module for Carrier Screening in Ashkenazi Jewish Individuals Compared with In-Person Genetics Education: A Randomized Controlled Trial

To increase accessibility to genetics services for low-urgency patients seeking Ashkenazi Jewish (AJ) carrier screening, we designed an interactive computer (IC) module that provides pre-test genetics education and allows genetics professionals to order the test without meeting the patients beforehand. We compared this module with in-person genetic counseling (GC) using a randomized trial. AJ individuals were randomized to undergo genetics education via the IC module (n = 26) or GC (n = 28). We compared post-interventional genetics knowledge, perceived genetic risk, and anxiety between the two groups, after accounting for pre-interventional scores, using ANCOVA. Wilcoxon Rank-Sum test was used to compare post-interventional satisfaction. Post-interventional genetics knowledge, risk perception, or anxiety were not significantly different between the two groups after accounting for baseline scores (p = 0.50–0.54), although the data are inconclusive regarding the module’s non-inferiority at a 5% margin. Post-intervention satisfaction scores were generally higher in the GC group than the IC module group. Our IC module has the potential to improve access to clinical genetics services for patients and staff, but it is not suitable for all AJ patients and cannot completely replace the benefits of in-person consultations.     

Does Group CBT for Depression Do What It Says on the Tin? A Systemic Review and Meta-analysis of Group CBT for Depressed Adults (2000–2016)

The present study aimed to update previous meta-analyses of gCBT, and focus specifically on recent studies in which the Beck Depression Inventory (BDI) was used to assess outcome. PsycINFO, PubMed, EMBASE, and Cochrane were searched for eligible studies. Both randomized controlled trials (RTC, k = 9) and non-RTCs (k = 1) published since 2000 were included. On the BDI large significant effect sizes were found for gCBT compared with treatment as usual (TAU, d = 4.64), wailing list controls (WLC, d = 1.20), and both of these comparison conditions combined with studies of well-defined alternative treatments (ALT, d = 1.61). On the BDI a moderate effect size (d = 0.53) was found for comparisons of gCBT and ALT groups. gCBT also had large and significant effects on depressive cognition assessed with the Automatic Thoughts Questionnaire and the Dysfunctional Attitudes Scale compared with WLC and ALT comparison groups (d = 2.66). This meta-analysis shows that gCBT is a robust intervention for depression in adults.     

Living With Genetic Vulnerability: a Life Course Perspective

This is the second article of a two part series about utilizing the life course perspective (LCP) in genetic counseling. Secondary data analysis was conducted on a grounded theory, longitudinal study which provided a wide focus on living with hereditary breast and ovarian cancer (HBOC) risk. The aim of this analysis was to explore the longitudinal data for both the temporal and social context of living with BRCA mutation genetic test results. Sixteen women from two previous studies were interviewed on multiple occasions over an 8 year time period. The LCP was used to direct a thematic analysis of the data. Families experience the consequences of knowing they carry a BRCA1 or BRCA2 gene mutation long after the initial diagnosis. These women’s experiences across time reflect the concepts of the LCP and show how life is changed when families know they live with a genetic vulnerability to an adult-onset and potentially life-threatening disease. Different emphases on concepts from the LCP were evident across the different age groups. For example, the group of 40–50 year old women emphasized the concept of linked lives, those in their 30’s focused on human agency and women in their 20’s were more focused on timing of events. This study helps give direction to healthcare providers counseling women living with a BRCA mutation.     

Impact of Genomic Counseling on Informed Decision-Making among ostensibly Healthy Individuals Seeking Personal Genome Sequencing: the HealthSeq Project

Personal genome sequencing is increasingly utilized by healthy individuals for predispositional screening and other applications. However, little is known about the impact of ‘genomic counseling’ on informed decision-making in this context. Our primary aim was to compare measures of participants’ informed decision-making before and after genomic counseling in the HealthSeq project, a longitudinal cohort study of individuals receiving personal results from whole genome sequencing (WGS). Our secondary aims were to assess the impact of the counseling on WGS knowledge and concerns, and to explore participants’ satisfaction with the counseling. Questionnaires were administered to participants (n = 35) before and after their pre-test genomic counseling appointment. Informed decision-making was measured using the Decisional Conflict Scale (DCS) and the Satisfaction with Decision Scale (SDS). DCS scores decreased after genomic counseling (mean: 11.34 before vs. 5.94 after; z = ?4.34, p < 0.001, r = 0.52), and SDS scores increased (mean: 27.91 vs. 29.06 respectively; z = 2.91, p = 0.004, r = 0.35). Satisfaction with counseling was high (mean (SD) = 26.91 (2.68), on a scale where 6 = low and 30 = high satisfaction). HealthSeq participants felt that their decision regarding receiving personal results from WGS was more informed after genomic counseling. Further research comparing the impact of different genomic counseling models is needed.     

Genetic Counselor Workforce Issues: a Survey of Genetic Counselors Licensed in the State of Indiana

The aims of this study were to document movement of genetic counselors (GCs) out of clinical positions and identify factors that might help employers attract and retain clinical GCs. A confidential on-line survey of GCs ever licensed in the state of Indiana was conducted. Of the 46 respondents, most provide direct patient care (69.6 %), have worked in their current position for 5 years or less (72.1 %), and are experienced genetic counselors, having graduated between 6 and 15 years ago (43.5 %). One-third (32.6 %) reported thinking about leaving their current position at least monthly. GCs were more likely to think about leaving their current position when they provided direct patient care (p = 0.04) and worked in a hospital/clinic setting (p = 0.01). Among the 18 respondents that changed jobs in the past two years, 55.6 % currently work in a laboratory/industry setting and 44.4 % provide direct patient care, compared to 8 % of those in a stable position (N = 25) who work in a laboratory/industry setting (p < 0.01) and 88 % who provide direct patient care (p < 0.01). Genetic counselors who have changed jobs within the past 2 years were more satisfied with the possibility for advancement (p = 0.01), the recognition for work they do (p = 0.03) and feeling value from the organization (p = 0.04) in their current positions than those who have not changed jobs. Salary and flexibility were most often reported as reasons for changing jobs. This is the first documentation of the movement of GCs out of clinical roles into industry positions. This changing landscape may impact the access to clinical services and the training of genetic counseling students. This data will provide employers with data to help attract and retain GCs in clinical roles.     

Prevalence and Characteristics of Patients with Suspected Inherited Renal Cell Cancer: Application of the ACMG/NSGC Genetic Referral Guidelines to Patient Cohorts

Patients with suspected hereditary renal cell cancer (RCC) are under-referred for genetic evaluation. Characterizing the prevalence and characteristics of suspected inherited RCC is a crucial step toward advancing personalized, genetically-based cancer risk management for patients and their families. To evaluate the prevalence and characteristics of suspected inherited RCC syndromes based on consensus criteria, we performed a cross-sectional analysis of patients with a diagnosis of RCC in SEER (2001–2011, n = 105,754) and in our institutional cancer registry (2004–2013, n = 998). Consensus criteria for referral of patients with RCC for genetic evaluation from the American College of Medical Genetics and Genomics and National Society of Genetic Counselors (ACMG/NSGC) were applied to the two cohorts. The associations between meeting referral criteria with demographic characteristics were assessed with chi-square tests. Overall, 24.0 % of the SEER cohort and 33.7 % of our institutional cohort met ACMG/NSGC referral criteria for genetic counseling. While white patients more commonly met early onset clear cell RCC criteria, black patients met papillary RCC criteria at twice the rate of whites in both cohorts (p < 0.0001). As many as 1 in 5 individuals with RCC meet referral criteria for genetic evaluation based on newly emerging guidelines, with differences in pathology noted by race. Prospective genetic testing studies utilizing emerging referral guidelines should help to refine the genetic spectrum of inherited kidney cancer. This study supports efforts to increase awareness of referral of patients with RCC for genetic counseling particularly among urologic providers.     

Student-Athletes’ Views on <Emphasis Type="Italic">APOE</Emphasis> Genotyping for Increased Risk of Poor Recovery after a Traumatic Brain Injury

Use of apolipoprotein E genotyping to personalize the risk of a poor recovery after traumatic brain injury is complicated by the potential for genetic discrimination and the potential to reveal an increased risk for late onset Alzheimer’s disease. We developed a survey to gauge interest in testing among athletes participating in National Collegiate Athletic Association programs. Eight hundred and forty seven student-athletes were surveyed to determine their interest in genetic testing, their willingness to share the results of testing with parents, coaches and physicians, their concerns about privacy and/or discrimination, and their interest in genetic counseling. Nearly three quarters of respondents expressed some level of interest in testing, with the largest number describing themselves as ‘possibly interested’ (54.9 %, n = 463) and a smaller number describing themselves as ‘very interested’ (18.9 %, n = 159). Most student-athletes said that receiving secondary information about their risk for late-onset Alzheimer’s disease made them more likely to test (50.6 %, n = 426) rather than less likely to test (12.4 %, n = 104). Student-athletes were open to apolipoprotein E genotyping and willing to share test results with their parents, coaches and physicians. They did not anticipate that test results would impact their behavior or ability to play. Testing programs may be welcome but should provide clear information as to risks and benefits.     

Therapeutic Identity among Clinical Psychology Professionals in India

This study explored the therapeutic identity among clinical psychology professionals in India with objectives of assessing therapeutic style, attitudes, orientation, values and its relationship with work experience, age and gender. Out of 79 clinical psychology professionals contacted, 50 gave written informed consent for participation in study. The data obtained from Psycho-Therapeutic Identity Questionnaire (ThIdQ). Cluster analysis of the responses on attitude scales revealed broad themes of therapeutic identity in the form of three cluster profiles: Vague psychodynamic assumptions with high self-doubt and low optimism about change (n = 9); Entangled in their own strong feelings of limitations and doubts as a therapist (n = 16); and Eclectic approach with low self-doubt and high optimism about change(n = 25). A lack of synchrony was seen between assessed and reported therapeutic orientation with overuse of the cognitive behavioural therapy (CBT) orientation. Correlation findings indicated that increased work experience in the field and higher age were associated with low self-doubt and high optimism about change in therapy. Findings on therapeutic identity provide mixed bag of results, positive as well as negative, with equal number of participants on each side.     

High Satisfaction and Low Distress in Breast Cancer Patients One Year after <Emphasis Type="Italic">BRCA</Emphasis>-Mutation Testing without Prior Face-to-Face Genetic Counseling

According to standard practice following referral to clinical genetics, most high risk breast cancer (BC) patients in many countries receive face-to-face genetic counseling prior to BRCA-mutation testing (DNA-intake). We evaluated a novel format by prospective study: replacing the intake consultation with telephone, written and digital information sent home. Face-to-face counseling then followed BRCA-mutation testing (DNA-direct). One year after BRCA-result disclosure, 108 participants returned long-term follow-up questionnaires, of whom 59 (55 %) had previously chosen DNA-direct (intervention) versus DNA-intake (standard practice i.e., control: 45 %). Questionnaires assessed satisfaction and psychological distress. All participants were satisfied and 85 % of DNA-direct participants would choose this procedure again; 10 % would prefer DNA-intake and 5 % were undecided. In repeated measurements ANOVA, general distress (GHQ-12, p?=?0.01) and BC-specific distress (IES-bc, p?=?0.03) were lower in DNA-direct than DNA-intake at all time measurements. Heredity-specific distress (IES-her) did not differ significantly between groups. Multivariate regression analyses showed that choice of procedure did not significantly contribute to either general or heredity-specific distress. BC-specific distress (after BC diagnosis) did contribute to both general and heredity-specific distress. This suggests that higher distress scores reflected BC experience, rather than the type of genetic diagnostic procedure. In conclusion, the large majority of BC patients that used DNA-direct reported high satisfaction without increased distress both in the short term, and 1 year after conclusion of genetic testing.     

A Positive Psychology Intervention for Patients with an Acute Coronary Syndrome: Treatment Development and Proof-of-Concept Trial

Positive psychological constructs are associated with superior outcomes in cardiac patients, but there has been minimal study of positive psychology (PP) interventions in this population. Our objective was to describe the intervention development and pilot testing of an 8-week phone-based PP intervention for patients following an acute coronary syndrome (ACS). Initial intervention development and single-arm proof-of-concept trial, plus comparison of the PP intervention to a subsequently-recruited treatment as usual (TAU) cohort. PP development utilized existing literature, expert input, and qualitative interview data in ACS patients. In the proof-of-concept trial, the primary outcomes were feasibility and acceptability, measured by rates of exercise completion and participant ratings of exercise ease/utility. Secondary outcomes were pre-post changes in psychological outcomes and TAU comparisons, measured using effect sizes (Cohen’s d). The PP intervention and treatment manual were successfully created. In the proof-of-concept trial, 17/23 PP participants (74 %) completed at least 5 of 8 exercises. Participants rated the ease (M = 7.4/10; SD = 2.1) and utility (M = 8.1/10, SD = 1.6) of PP exercises highly. There were moderate pre-post improvements (ds = .46–.69) in positive affect, anxiety, and depression, but minimal effects on dispositional optimism (d = .08). Compared to TAU participants (n = 22), PP participants demonstrated greater improvements in positive affect, anxiety, and depression (ds = . 47–.71), but not optimism. A PP intervention was feasible, well-accepted, and associated with improvements in most psychological measures among cardiac patients. These results provide support for a larger trial focusing on behavioral outcomes.     

Clinical Utility of Expanded Carrier Screening: Reproductive Behaviors of At-Risk Couples

Expanded carrier screening (ECS) analyzes dozens or hundreds of recessive genes to determine reproductive risk. Data on the clinical utility of screening conditions beyond professional guidelines are scarce. Individuals underwent ECS for up to 110 genes. Five-hundred thirty-seven at-risk couples (ARC), those in which both partners carry the same recessive disease, were invited to participate in a retrospective IRB-approved survey of their reproductive decision making after receiving ECS results. Sixty-four eligible ARC completed the survey. Of 45 respondents screened preconceptionally, 62% (n = 28) planned IVF with PGD or prenatal diagnosis (PNDx) in future pregnancies. Twenty-nine percent (n = 13) were not planning to alter reproductive decisions. The remaining 9% (n = 4) of responses were unclear. Of 19 pregnant respondents, 42% (n = 8) elected PNDx, 11% (n = 2) planned amniocentesis but miscarried, and 47% (n = 9) considered the condition insufficiently severe to warrant invasive testing. Of the 8 pregnancies that underwent PNDx, 5 were unaffected and 3 were affected. Two of 3 affected pregnancies were terminated. Disease severity was found to have significant association (p = 0.000145) with changes in decision making, whereas guideline status of diseases, controlled for severity, was not (p = 0.284). Most ARC altered reproductive planning, demonstrating the clinical utility of ECS. Severity of conditions factored into decision making.     

Let’s be healthy together: Relational motivation for physical health is more effective for women

Four studies examined the role of relationally-autonomous reasons in health behavior (RARHs) and how gender moderates their association with health outcomes. Study 1 (n = 160) involved the development of a measure of RARHs. The results of a factor analysis distinguished RARHs from other types of health reasons. In Study 2, participants (n = 284) completed a survey assessing their relational reasons prior to taking assessments of their body composition and fitness level. In Study 3, participants (n = 577) completed an online survey assessing RARHs, self-construal and health behaviors. The results of Studies 2 and 3 showed that RARHs positively predicted healthy outcomes for females only. In Study 4, participants (n = 72) were asked to complete an online survey, attend an orientation session, keep track of their exercise and nutrition over the course of a week, and attend a follow-up session. The results revealed that having an exercise partner was positively associated with RARHs, and that this in turn predicted reported effort and progress outcomes at the follow-up session for females only. Implications for theories of motivation and gender differences are discussed.     

Counselees’ Expressed Level of Understanding of the Risk Estimate and Surveillance Recommendation are Not Associated with Breast Cancer Surveillance Adherence

We studied counselees’ expressed understanding of the risk estimate and surveillance recommendation in the final consultation for breast cancer genetic counseling in relation with their risk perception, worry and cancer surveillance adherence 1 year post-counseling. Consecutive counselees were included from 2008 to 2010. Counselees with an indication for diagnostic DNA-testing for themselves or a breast cancer affected relative were requested to complete online questionnaires before and after counseling and one year after counseling (N?=?152–124). Self-reported surveillance was compared to surveillance recommendations. Consultations were videotaped. Counselees’ reactions to the risks and recommendations were coded. Statements about the risk perception and surveillance intentions of breast cancer unaffected counselees were transcribed. Associations with outcomes were explored. Almost all breast cancer unaffected counselees (>90 %) reacted to their risk estimate with an utterance indicating understanding and this reaction was not significantly associated with their post-visit risk perception alignment. Over one-third (38.6 %) overestimated their risk post-counseling. Few counselees (5.8 %) expressed surveillance intentions. One year after counseling, about three-quarters (74.0 %) of the breast cancer unaffected counselees had adhered to the surveillance recommendation. Almost one-quarter (23.3 %) had performed more mammograms/MRI scans than recommended, which was associated with prior mammography uptake (n?=?47; X ² ?=?5.2; p?=?.02). Counselees’ post-counseling overestimation of their risk, high levels of worry and high surveillance uptake were not reflected in their reactions to the counselor’s information during the final visit.     

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.