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.     

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.     

The Integration of Noninvasive Prenatal Screening into the Existing Prenatal Paradigm: a Survey of Current Genetic Counseling Practice

Since its introduction four years ago, noninvasive prenatal screening for fetal aneuploidy (NIPS) has been widely adopted as a screening tool for women at a high risk for fetal aneuploidy. As use expands into the general population, questions arise concerning the integration of NIPS into preexisting screening paradigms. This study aims to examine the use of NIPS in current practice among prenatal counselors, predominantly in the United States, in order to inform strategies for the optimal use of both new and existing screening techniques. We electronically surveyed 208 members of the National Society of Genetic Counselors to ascertain how NIPS is currently being used. Genetic counselors were also queried as to the advantages and disadvantages of offering NIPS to all patients regardless of a priori risk. Results indicate substantial variation in practice regarding which patients are offered NIPS and how counselors have incorporated this technology into existing screening routines. The majority of participants report offering NIPS in conjunction with another method of screening for fetal aneuploidy, indicating that NIPS is being used as an addition rather than as a replacement. These screening methods primarily include nuchal translucency (NT) (45.1 %, n = 78) and first trimester serum screening, with or without an NT (19.7 %, n = 34). Furthermore, the majority report that they would be concerned about losing the clinical value of an NT in a complete transition to NIPS (85.4 %, n = 164). Counselors are evenly split on the merits of expanding the use of NIPS to the general population (con: 55.3 %, n = 105; pro: 44.7 %, n = 85). The lack of consensus suggests that updated practice guidelines might benefit counselors. In addition, respondents emphasized the need to better educate patients and providers about the risks, benefits, and limitations of the test.     

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.     

The Effect of Religious Belief and Forgiveness on Coping with Diabetes

We aimed to investigate the relationship of religious beliefs and forgiveness in diabetic patients with various sociodemographic characteristics, emotional problems and glycaemic control. The study comprises 100 patients diagnosed with type 2 DM. We used a data collection form, the Scale of Forgiveness and Religiosity (SFR), Problem Areas in Diabetes Scale (PAID), Beck Depression Inventory (BDI), State-Trait Anxiety Inventory (STAI) and the Audit of Diabetes-Dependent Quality of Life (ADDQoL). We also recorded blood glucose and HbA1c test results. A statistically significant relationship was determined only between the scores of the STAI-I and the religious belief scales (r = 0.198, p = 0.049). A statistically significant negative relationship was determined between the forgiveness scale points and the BDI (r = 0.326, p = 0.001), the STAI-II (r = 0.308, p = 0.002) and PAID (r = 0.313, p = 0.001) and a positive correlation with ADDQoL (r = 0.284, p = 0.004). To conclude, forgiveness by patient himself or others reduced the emotional problems which were experienced related to diabetes by reducing stress levels and could increase quality of life.     

Factors Associated with Interest in Gene-Panel Testing and Risk Communication Preferences in Women from <Emphasis Type="Italic">BRCA1/2</Emphasis> Negative Families

Scientific advances have allowed the development of multiplex gene-panels to assess many genes simultaneously in women who have tested negative for BRCA1/2. We examined correlates of interest in testing for genes that confer modest and moderate breast cancer risk and risk communication preferences for women from BRCA negative families. Female first-degree relatives of breast cancer patients who tested negative for BRCA1/2 mutations (N = 149) completed a survey assessing multiplex genetic testing interest and risk communication preferences. Interest in testing was high (70 %) and even higher if results could guide risk-reducing behavior changes such as taking medications (79 %). Participants preferred to receive genomic risk communications from a variety of sources including: primary care physicians (83 %), genetic counselors (78 %), printed materials (71 %) and the web (60 %). Factors that were independently associated with testing interest were: perceived lifetime risk of developing cancer (odds ratio (OR) = 1.67: 95 % confidence interval (CI) 1.06–2.65) and high cancer worry (OR = 3.12: CI 1.28–7.60). Findings suggest that women from BRCA1/2 negative families are a unique population and may be primed for behavior change. Findings also provide guidance for clinicians who can help develop genomic risk communications, promote informed decision making and customize behavioral interventions.     

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.     

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.     

Reproductive Endocrinologists’ Utilization of Genetic Counselors for Oncofertility and Preimplantation Genetic Diagnosis (PGD) Treatment of <Emphasis Type="Italic">BRCA1/2</Emphasis> Mutation Carriers

Genetic counselors believe fertility preservation and preimplantation genetic diagnosis (PGD) discussions to be a part of their role when counseling BRCA1/2 mutation-positive patients. This study is the first to explore reproductive endocrinologists’ (REI) practices and attitudes regarding involvement of genetic counselors in the care of BRCA1/2 mutation carriers seeking fertility preservation and PGD. A survey was mailed to 1000 REIs from Reproductive Endocrinology & Infertility (SREI), an American Society for Reproductive Medicine (ASRM) affiliate group. A 14.5 % response rate was achieved; data was analyzed using SPSS software. The majority of participating REIs were found to recommend genetic counseling to cancer patients considering fertility preservation (82 %) and consult with a genetic counselor regarding PGD for hereditary cancer syndromes (92 %). Additionally, REIs consult genetic counselors regarding PGD patient counseling (88 %), genetic testing (78 %), and general genetics questions (66 %). Two areas genetic counselors may further aid REIs are: elicitation of family history, which is useful to determine fertility preservation and PGD intervention timing (32 % of REIs utilize a cancer family history to determine intervention timing); and, interpretation of variants of uncertain significance (VOUS) as cancer panel genetic testing becomes more common (36 % of REIs are unfamiliar with VOUS). Given our findings, the Oncofertility Consortium® created an online resource for genetic counselors focused on fertility preservation education and communication strategies.     

Resilience to Interpersonal Trauma and Decreased Risk for Psychopathology in an Epidemiologic Sample

Quantitative measures of psychological resilience related to discrete stressors, such as interpersonal (IP) trauma, are lacking. The current study examined whether a novel, quantitative measure of resilience was related to decreased risk for a broad range of lifetime DSM-IV axis I disorders in an epidemiologic sample. Resilience was defined as the residual resulting from the difference between the individual’s predicted and observed PTSD symptom count, based on their cumulative exposure to IP traumatic events. Participants were 6288 adults (59.5% women; M _age  = 46.9, SD = 14.5) from the National Epidemiologic Study on Alcohol and Related Conditions endorsing at least one lifetime IP traumatic event. Logistic regressions were conducted to examine the relationship between resilience and axis I diagnoses, covarying for age, sex, education level, social support, and recent stressful life events. Greater resilience scores were associated with decreased likelihood of major depression (OR = .64, p < .001), generalized anxiety disorder (OR = .65, p < .001), social anxiety disorder (OR = .74, p < .001), panic disorder (OR = .65, p <. 001), and alcohol dependence (OR = .85, p < .001). Discrepancy between expected and observed PTSD symptom severity based on IP trauma load may represent a useful, quantitative measure of resilience.     

Distress Tolerance and Social Support in Adolescence: Predicting Risk for Internalizing and Externalizing Symptoms Following a Natural Disaster

The purpose of the multi-measure, multi-wave, longitudinal study was to examine the interactive relation between behavioral distress tolerance (DT) and perceived social support (PSS) in 352 tornado-exposed adolescents aged 12–17 years (M = 14.44; SD = 1.74). At baseline, adolescents completed a computer-based task for DT, and self-report measures of PSS, depressed mood, posttraumatic stress disorder (PTSD), substance use, and interpersonal conflict. Symptoms also were assessed 4 and 12 months after baseline. Findings showed that lower levels of DT together with lower levels of PSS conferred risk for elevated symptoms of prospective depression (t(262) = ?2.04, p = .04; r_{effect size} = 0.13) and PTSD (t(195) = ?2.08, p = .04; r_{effect size} = 0.15) following a tornado. However, only PSS was significant in substance use t(139) = 2.20, p = .03; r_{effect size=}0.18) and conflict (t(138) = ?4.05, p < .0001; r_{effect size=}0.33) in our sample. Implications regarding adolescent DT, the transdiagnostic nature of PSS, and the clinical applications of our findings in the aftermath of a natural disaster are discussed.     

Mindfulness Among Genetic Counselors Is Associated with Increased Empathy and Work Engagement and Decreased Burnout and Compassion Fatigue

Genetic counselors experience high rates of compassion fatigue and an elevated risk for burnout, both of which can negatively impact patient care and retention in the profession. In other healthcare professions, mindfulness training has been successfully used to address similar negative psychological sequelae and to bolster empathy, which is the foundation of our counseling work. We aimed to assess associations between mindfulness and key professional variables, including burnout, compassion fatigue, work engagement, and empathy. Data were collected via an anonymous, online survey that included validated measures of mindfulness and these key professional variables. The survey was completed by 441 genetic counselors involved in direct patient care. Half of the respondents (50.1%) reported engaging in yoga, meditation, and/or breathing exercises. Mindfulness was positively correlated with work engagement (r?=?0.24, p?<?0.001) and empathy (as measured through four subscales: perspective taking (r?=?0.15, p?=?0.002), empathic concern (r?=?0.11, p?=?0.03), fantasy (r?=???0.11, p?=?0.03) and personal distress (r?=???0.15, p?=?0.001)). Mindfulness was negatively correlated with compassion fatigue (r?=???0.48, p?<?0.001) and burnout (r?=???0.50, p?<?0.001). Given these findings, mindfulness training may be a valuable addition to graduate and continuing education for genetic counselors. The integration of mindfulness into the genetic counseling field will likely improve professional morale and well-being, while promoting workforce retention and bolstering the relational and counseling aspects of our clinical work.     

Irrational Beliefs and Attention Bias Towards Symptoms-Related Stimuli in Maintaining Gastrointestinal Symptoms: Results from a Pilot Study

Recent etiopathogenic theories of gastrointestinal conditions state that information processing biases can be a possible major factor involved in the aetiology and maintenance of these conditions. This exploratory study investigated the role of attention biases (AB) towards symptoms-related cues in gastrointestinal patients with respect to symptom maintenance, simultaneously taking into consideration the role of irrational beliefs. We included 32 patients diagnosed with gastrointestinal conditions. Patients completed a battery of psychological tests and an experimental task aimed to measure the preferential attention processing of linguistic stimuli related to gastrointestinal symptoms when they compete for attention resources with neutral stimuli. AB was positively related to irrational beliefs [r(31) = .376, p = .037] and analgesics use [r(32) = .518, p = .002], but not to self-report gastrointestinal symptoms [r(30) = ?.165, p = .382]. Irrational beliefs correlated with pain catastrophizing [r(31) = .373, p = .039], but not to gastrointestinal symptoms, pain intensity, visceral sensitivity or negative emotions; however, pain catastrophizing correlated with all of these. Taken together, our results suggest that core irrational beliefs action as general vulnerability factors that trigger specific implicit and explicit cognitive mechanisms (i.e., AB, pain catastrophizing) involved in the onset and maintenance of symptoms. Future experimental studies should test the robustness of these results in larger samples and aim to further advance our understanding of how cognitive factors interact and potentiate each other in generating and maintaining debilitating suffering.     

Next Generation Sequencing in the Clinic: a Patterns of Care Study in a Retrospective Cohort of Subjects Referred to a Genetic Medicine Clinic for Suspected Lynch Syndrome

Next generation sequencing (NGS) gene panels are increasingly used in medical genetics clinics for the evaluation of common inherited cancer syndromes, but the clinical efficacy of these tests, and the factors driving clinical providers to order them are unclear. We conducted a patterns-of-care study to compare patients evaluated with NGS gene panels with a reference group. We abstracted demographic, socioeconomic, and clinical information in a retrospective cohort of patients referred to a large medical genetics clinic for evaluation of inherited colorectal cancer and polyposis syndromes. Patients tested with NGS gene panels were more likely to be insured compared to the reference group (85.3 % vs. 69.2 %, p = 0.0068),less likely to have prior tumor tissue testing (29.4 % vs. 54.3 %, p = 0.0004), and less likely to have an abnormal tumor tissue test result (46.7 % vs. 74.5 %, p = 0.01). No significant differences were found between groups in age, gender, race, employment status, personal history of colorectal cancer, or proportion of patients fulfilling Lynch syndrome clinical criteria. Patients with NGS testing were less likely to have a pathogenic/likely pathogenic variant detected (13.7 % vs. 31.9 %, p = 0.002). Patients referred for NGS testing to evaluate inherited colorectal cancer/polyposis risk appear to undergo tumor tissue testing less frequently than non-NGS testing patients. Further studies are needed to assess the most effective and cost-effective approach to genomic diagnosis in this patient population.     

A Daily Process Approach to Depict Satisfaction with Life during the Menopausal Transition: Physical (In)activity,Symptoms, and Neuroticism

The main objectives of the present study were (1) to examine the between- and within-person association of physical (in)activity and satisfaction with life (SWL), and (2) to identify relevant top-down and bottom-up influences associated with daily well-being in menopausal women using a daily process approach. As part of a 21-day diary study, community-dwelling middle-aged women (N = 103; age range 40–60 years) wore an accelerometer for the objective assessment of physical activity and completed daily Internet surveys at the end of their day. Multilevel analyses indicated the between-person effects of physical activity on SWL were negligent but that on days when a woman was more physically active than her usual, she reported greater SWL (B = 12.01, p < .05). Sedentary behavior did not demonstrate a between- or within-person association with SWL. Women also experienced reduced SWL on days when greater symptom burden was reported (B = ?2.47, p < .05). Neuroticism also emerged as a top-down personality trait with a negative relation to SWL (B = ?1.47, p < .05). Higher levels of neuroticism predicted reduced daily life satisfaction particularly on days characterized by heightened symptom burden (B = ?0.26, p < .05). In this sample of midlife women, daily physical activity had a positive influence on SWL, whereas daily symptom burden and the personality trait of neuroticism had detrimental consequences on a woman’s daily well-being.     

Stress-Related Growth in Japanese Adolescents Experiencing High School Entrance Examinations

High school entrance examinations and preparation for them have become a highly stressful experience for many Japanese adolescents. This study examined the relationship between stress-related growth (SRG) and distress resulting from these exams from the perspective of positive meaning-making. Ninth graders (N = 183, 87 females, aged 14–15 years) of a public school in Tokyo participated in the study by responding to a questionnaire survey. Results indicated that meaning-making was positively correlated with SRG (r = .58, p < .001), whereas it was negatively correlated with distress (r = ?.20, p = .006). Moreover, SRG was negatively correlated with distress (r = ?.34, p < .001). Mediation analysis demonstrated that SRG positively mediates the relationship between meaning-making and distress, while distress negatively mediates the relationship between meaning-making and SRG. These results have implications for understanding the causal relationships between SRG and distress, from the perspective of positive meaning-making regarding high school entrance examinations in Japan.