Counseling Appointment Research Articles

Assessing and attending to psychosocial concerns in genetic counseling: Proposing the BATHE method.

The process of identifying and responding to patients' social, emotional, and psychological concerns is a required skill for training and practicing genetic counselors. Patients' health outcomes are improved when genetic counselors attend to these "psychosocial" concerns. Still, the process of eliciting, assessing, and attending to patients' psychosocial concerns in the genetic counseling setting is not well defined in the literature nor is it performed consistently. Tools that do exist are often questionnaire-based, designed for research use, or occur outside of a genetic counseling appointment. Here we describe the complexities of defining "psychosocial assessment" in genetic counseling, its impact on patient outcomes, and summarize existing tools for psychosocial assessment. We identify a need for evidenced-based, verbally-administered psychosocial assessment tools in genetic counseling and explore the value of adapting an existing tool from primary care (the BATHE method) to genetic counseling. The BATHE method is a semi-structured psychosocial assessment tool that can be performed quickly within a patient appointment to gather context, emotional impact, the patient's primary concern, and coping strategies. Through our professional experiences we believe it is a beneficial psychosocial assessment tool as perceived by both patients and genetic counselors. Further work is needed to determine if the BATHE method could fill a gap in how genetic counselors conduct a psychosocial assessment.

Cancer genetic counseling via telegenetics and telephone: A qualitative study exploring the experience of patients and genetic counselors in an Australian cancer genetics context.

The demand for direct-to-patient (DTP) telegenetics (genetics services delivered via videoconferencing) in genetic counseling practice has rapidly increased, particularly since the COVID-19 pandemic. Recent telegenetics literature is mostly quantitative and not in the Australian context. A qualitative interview study was conducted to address this gap. This research investigated the experiences of patients and genetic counselors (GCs), enrolled in a randomized controlled trial, using telegenetics and telephone for cancer genetic counseling appointments. Twenty-eight semi-structured interviews with patients (n = 22) and GCs (n = 6) were conducted following patient randomization to either a telephone or telegenetics genetic counseling appointment. The interviews explored participant's experiences of telegenetics and compared DTP telegenetics with telephone and in-person delivery. Codebook thematic analysis was used to develop topic summaries from the data. Patient and GC participants noted positive experiences of telegenetics; with key benefits reported as reduced travel time, time and cost saving, ease, convenience, efficiency, and comfortability. Technical issues and privacy concerns were highlighted as potential disadvantages of telegenetics. All but one patient felt sufficiently emotionally supported while using telegenetics. Telegenetics has both benefits and limitations; however, generally, this cohort found telegenetics to be a suitable and acceptable mode of delivery for genetic counseling with many advantages over in-person or telephone appointments. Further studies should be conducted to provide evidence for the long-term implementation of telegenetics, regardless of any future COVID-19 pandemic lockdown restrictions.

Uptake of Cancer Genetic Services for Chatbot vs Standard-of-Care Delivery Models: The BRIDGE Randomized Clinical Trial.

Increasing numbers of unaffected individuals could benefit from genetic evaluation for inherited cancer susceptibility. Automated conversational agents (ie, chatbots) are being developed for cancer genetics contexts; however, randomized comparisons with standard of care (SOC) are needed. To examine whether chatbot and SOC approaches are equivalent in completion of pretest cancer genetic services and genetic testing. This equivalence trial (Broadening the Reach, Impact, and Delivery of Genetic Services [BRIDGE] randomized clinical trial) was conducted between August 15, 2020, and August 31, 2023, at 2 US health care systems (University of Utah Health and NYU Langone Health). Participants were aged 25 to 60 years, had had a primary care visit in the previous 3 years, were eligible for cancer genetic evaluation, were English or Spanish speaking, had no prior cancer diagnosis other than nonmelanoma skin cancer, had no prior cancer genetic counseling or testing, and had an electronic patient portal account. Participants were randomized 1:1 at the patient level to the study groups at each site. In the chatbot intervention group, patients were invited in a patient portal outreach message to complete a pretest genetics education chat. In the enhanced SOC control group, patients were invited to complete an SOC pretest appointment with a certified genetic counselor. Primary outcomes were completion of pretest cancer genetic services (ie, pretest genetics education chat or pretest genetic counseling appointment) and completion of genetic testing. Equivalence hypothesis testing was used to compare the study groups. This study included 3073 patients (1554 in the chatbot group and 1519 in the enhanced SOC control group). Their mean (SD) age at outreach was 43.8 (9.9) years, and most (2233 of 3063 [72.9%]) were women. A total of 204 patients (7.3%) were Black, 317 (11.4%) were Latinx, and 2094 (75.0%) were White. The estimated percentage point difference for completion of pretest cancer genetic services between groups was 2.0 (95% CI, -1.1 to 5.0). The estimated percentage point difference for completion of genetic testing was -1.3 (95% CI, -3.7 to 1.1). Analyses suggested equivalence in the primary outcomes. The findings of the BRIDGE equivalence trial support the use of chatbot approaches to offer cancer genetic services. Chatbot tools can be a key component of sustainable and scalable population health management strategies to enhance access to cancer genetic services. ClinicalTrials.gov Identifier: NCT03985852.

HIV Incidence and Transactional Sex Among Men Who Have Sex With Men in Ningbo, China: Prospective Cohort Study Using a WeChat-Based Platform.

Sexual transmission among men who have sex with men (MSM) has become the major HIV transmission route. However, limited research has been conducted to investigate the association between transactional sex (TS) and HIV incidence in China. This study aims to investigate HIV incidence and distinguish sociodemographic and sexual behavioral risk factors associated with HIV incidence among MSM who engage in TS (MSM-TS) in China. We conducted a prospective cohort study using a WeChat-based platform to evaluate HIV incidence among Chinese MSM, including MSM-TS in Ningbo, recruited from July 2019 until June 2022. At each visit, participants completed a questionnaire and scheduled an appointment for HIV counseling and testing on the WeChat-based platform before undergoing offline HIV tests. HIV incidence density was calculated as the number of HIV seroconversions divided by person-years (PYs) of follow-up, and univariate and multivariate Cox proportional hazards regression was conducted to identify factors associated with HIV incidence. A total of 932 participants contributed 630.9 PYs of follow-up, and 25 HIV seroconversions were observed during the study period, resulting in an estimated HIV incidence of 4.0 (95% CI 2.7-5.8) per 100 PYs. The HIV incidence among MSM-TS was 18.4 (95% CI 8.7-34.7) per 100 PYs, which was significantly higher than the incidence of 3.2 (95% CI 2.1-5.0) per 100 PYs among MSM who do not engage in TS. After adjusting for sociodemographic characteristics, factors associated with HIV acquisition were MSM-TS (adjusted hazard ratio [aHR] 3.93, 95% CI 1.29-11.93), having unprotected sex with men (aHR 10.35, 95% CI 2.25-47.69), and having multiple male sex partners (aHR 3.43, 95% CI 1.22-9.64) in the past 6 months. This study found a high incidence of HIV among MSM-TS in Ningbo, China. The risk factors associated with HIV incidence include TS, having unprotected sex with men, and having multiple male sex partners. These findings emphasize the need for developing targeted interventions and providing comprehensive medical care, HIV testing, and preexposure prophylaxis for MSM, particularly those who engage in TS.

Performance of LFSPRO TP53 germline carrier risk predictions compared to standard genetic counseling practice on prospectively collected probands.

Current clinical guidelines for genetic testing for Li-Fraumeni Syndrome (LFS) have many limitations, primarily the criteria don't consider detailed personal and family history information and may miss many individuals with LFS. A personalized risk assessment tool, LFSPRO, was created to estimate a proband's risk for LFS based on personal and family history information. The purpose of this study is to compare LFSPRO to existing clinical criteria to determine if LFSPRO can outperform these tools. Additionally, we gauged genetic counselors' (GCs) experience using LFSPRO for their patients. Between December 2021 and March 2024, GCs identified patients concerning for LFS based on the patients' personal and family history information. This information was entered into LFSPRO to predict the risk to have a pathogenic/pathogenic (LP/P) germline TP53 variant. Sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) was compared between LFSPRO and Chompret criteria. Select GCs were asked to fill out surveys regarding their experience using LFSPRO following their genetic counseling appointments. LFSPRO's sensitivity and specificity were 0.529 and 0.781 compared to Chompret's respective 0.235 and 0.677. Additionally, LFSPRO had a positive predictive value (PPV) of 0.30 compared to Chompret's 0.114. LFSPRO's risk prediction was concordant with genetic testing results in 75% of probands. Eighty-one percent of GC surveys reported LFSPRO being concordant with the GC's expectations and 75% would feel comfortable sharing the results with patients. LFSPRO showed improved sensitivity and specificity compared to Chompret criteria and GCs report a positive experience with LFSPRO. LFSPRO can be used to increase access to genetic testing for patients at risk for LFS and could help healthcare providers give more direct risk assessments regarding LFS testing and management for patients.

Cultural, demographic, and other non-demographic factors associated with cancer genetic counseling patients' appointment accompaniment preferences in the United States.

Although the presence of companion(s) in a genetic counseling session can positively influence session dynamics, research has found that some patients prefer to attend their appointments alone. To date, no studies have examined patient accompaniment preferences across different cultural groups in the context of genetic counseling. This quantitative study aimed to identify factors associated with individual preferences in accompaniment at cancer genetic counseling appointments in a sample (N = 130) of Hispanic/Latine (n = 29) and non-Hispanic/Latine White (n = 101) participants at a large academic medical institution. Variables examined included demographics, horizontal and vertical collectivism, and Hispanic and American acculturation. A link to an online questionnaire was emailed to patients who met four criteria: (1) identified as either Hispanic/Latine or non-Hispanic/Latine White; (2) had attended a cancer genetic counseling appointment at UCLA Health to discuss genetic testing options between October 2020 and December 2022; (3) were at least 18 years of age at the time of their appointment; and (4) indicated they were comfortable reading in Spanish or English; responses were anonymous. Logistic regression analyses identified four significant variables in the model associated with accompaniment preferences: individuals with at least one parent born outside of the US, those who attended their appointment in-person, and those with a higher horizontal collectivism score were less likely to want to attend their cancer genetic counseling appointment alone, while the converse was true among those with a higher American acculturation score. These findings highlight cultural and demographic factors that are associated with patient accompaniment preferences unrelated to ethnicity, indicating genetic counselors should not make assumptions regarding accompaniment preferences based solely on cultural or racial/ethnic background. Genetic counselors should incorporate this understanding when assessing patients' accompaniment preferences.

Improving feasibility and timeliness of hereditary cancer risk assessment with a brief patient-administered digital tool and rapidly available telehealth genetic counseling.

10614 Background: Multiple guidelines recommend hereditary cancer risk assessment for all adults, yet it rarely is performed. This is largely due to the time-consuming nature of such assessments and difficulty with access to genetic counseling for those at high risk. We designed a care model to address these issues that is suitable for both oncology and non-oncology settings. It includes a brief patient-administered and clinically validated digital hereditary cancer risk assessment tool, followed by immediate online self-scheduling features for telehealth genetic counseling, with appointments available within 48 hours. The digital tool uses a guideline-based algorithm to assess whether genetic testing for hereditary cancer risk is indicated. Here we aim to evaluate the effectiveness and timeliness of this model. Methods: We conducted a retrospective chart review of consecutive patients that engaged with this model from May 2021 to August 2023 at 32 obstetrics and gynecology clinics. We also used nationwide data from the National Society of Genetic Counselor's (NSGC) Professional Status Survey. To assess timeliness of genetic counseling appointments in this care model, we compared the time from scheduling the appointment to the start of the appointment to wait times at health systems for comparable non-urgent cancer genetic counseling appointments, from the NSGC data. Effectiveness was assessed via rates of completion of the tool and scheduling of genetic counseling. Results: 2538 patients (98% female, mean age 37 years, 3.9% with a personal history of cancer) initiated the care model and 95% (2415/2538) completed the risk assessment tool. A quarter (26% (628/2415)) met criteria for germline genetic testing. The median time to complete the tool was 2.7 minutes (IQR 2.9). At the end of the tool, patients could click a button to schedule an appointment with a genetic counselor to discuss hereditary cancer risk and genetic testing. 44% (274/628) booked an appointment. The median time from scheduling to genetic counseling appointment was 2.8 days (IQR 4.9 days), which is shorter than the median wait time for comparable genetic counseling appointments at health systems in the nationwide NSGC dataset (21 days (IQR 53 days); p<< 0.01). Conclusions: The tool completion rate, rate of patients meeting criteria, and uptake of genetic counseling indicate the model is effective. Timeliness was improved by this model, with the digital tool assessing risk in ~3 minutes, compared to previous reports of ~30 minutes for manual hereditary cancer risk assessment. In addition, the timeliness of genetic counseling appointments was markedly better than the current standard of care. These findings suggest that this care model can support physicians in providing timely guideline-recommended hereditary cancer risk assessment to their patients.

Predictive genetic testing for Huntington's disease: Exploring participant experiences of uncertainty and ambivalence between clinic appointments.

Ambivalence and uncertainty are key themes throughout the psychology of healthcare literature. This is especially so for individuals at risk of Huntington's disease (HD) deliberating the decision to undergo genetic testing because there is currently no treatment that modifies disease progression. A better understanding of the experience of making a decision about genetic prediction will help practitioners support and guide individuals through this process. Our aim was to capture participants' experiences of uncertainty and ambivalence in between their genetic counseling appointments. We explored these issues through the experiences of nine participants who were referred for predictive HD testing at four regional genetics services in England and Wales. Data consisted of recordings of clinic consultations, diaries, and an in-depth interview conducted at the end of the testing process. Data were analyzed thematically. Four themes were identified representing four possible futures, each future dependent on the decision to undergo testing and the result of that test. Our results showed that participants, as well as attending more to a future that represents their current situation of not having undergone predictive testing, also attended more to a distant future where a positive predictive result is received and symptoms have started. Participants attended less to the two futures that were more immediate once testing was undertaken (a future where a positive result is received and symptoms have not started and a future where a negative result is received). The use of diaries gave us a unique insight into these participants' experiences of ambivalence and uncertainty, psychological distress, and the emotional burden experienced. These findings help inform discussions within the clinic appointment as well as encourage researchers to consider diary use as a method of exploring what happens for individuals outside of clinical encounters.

Abstract PO1-09-03: Clinical Impact of Multigene Panel Testing in Patients with a Personal or Family History of Breast or Ovarian Cancer Previously Negative for BRCA1/2 Genes

Abstract Rapid developments in cancer genetics and hereditary cancer risk assessments have enabled the identification of individuals at elevated risk for hereditary malignancies to guide enhanced cancer screening and prevention efforts. Multigene panel testing has emerged as the standard approach as emphasized in the National Comprehensive Cancer Network (NCCN) guidelines. The purpose of this study was to investigate the frequency of other pathogenic mutations identified through multigene panel testing in individuals who previously tested negative for germline BRCA1/2 and assess the clinical impact of panel testing. Patients either previously diagnosed with breast cancer or with a family history of breast or ovarian cancer that had also been seen by Oncology Genetics at a single institution and tested negative for BRCA1/2 genes but had not undergone prior multigene panel testing were invited via a letter to return for an additional genetic counseling visit to discuss multigene panel testing. Patients were also able to opt-in to a survey component of the study and received an email to fill out the Multidimensional Impact of Cancer Risk Assessment (MICRA) and Cancer Worry Scale (CWS). Surveys were completed prior to the initial genetic counseling appointment and repeated after discussion of the multigene panel test results. A total 24 women met with a genetic counselor of which 22 (92%) had a personal history of breast cancer, 1 (4%) had a family history of breast cancer, and 1 (4%) had a family history of ovarian cancer. The mean age was 52.6 years (range, 42-68) and 100% of women were Caucasian. Of the 24 women, 17 (71%) completed multigene panel testing. Of the women that underwent testing, 7 (41%) had negative results, 6 (35%) had variants of unknown significance (VUS), and 4 (24%) had a pathogenic mutation identified in another gene (CDKN2A, CHEK2, and CFTR). There was no significant change in MICRA or CWS scores after multigene panel results were reviewed in the 9 patients that completed both pre- and post-genetic testing surveys. The mean/median summary MICRA scores pre- and post-counselling were 30 (SD 12.4), median 26 (min 18, max 56), and 21.2 (SD 15.4), median 21 (min 3, max 43), respectively (p=0.19, Wilcoxon signed ranks test). The mean/median summary CWS scores pre- and post-counselling were 14.3 (SD 5), median 15 (min 7, max 24), and 13.6 (SD 2.59), median 14 (min 10, max 17), respectively (p=0.53, Wilcoxon signed ranks test). Of the 4 patients with newly identified pathogenic mutations, 2 started new screening protocols and 1 underwent a prophylactic mastectomy. In conclusion, multigene panel testing identified pathogenic mutations in a subset of individuals who previously tested negative for BRCA1/2 genes leading to changes in clinical management. The completion of multigene panel testing did not lead to a significant increase in MICRA or CWS scores. Key limitations of this study include a small sample size and an all Caucasian population. Citation Format: Devon Miller, Stephanie Pritzl, Angela Tess, Jessica Gooding, Lisa Barroilhet, Lori Dubenske, Kari Wisinski. Clinical Impact of Multigene Panel Testing in Patients with a Personal or Family History of Breast or Ovarian Cancer Previously Negative for BRCA1/2 Genes [abstract]. In: Proceedings of the 2023 San Antonio Breast Cancer Symposium; 2023 Dec 5-9; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2024;84(9 Suppl):Abstract nr PO1-09-03.

Development of Online Counseling Appointment System for Guidance Office of the Office of Student Affairs and Services at Cavite State University-Main

Every guidance counselor finds remote appointments an important tool for managing appointments since it allows them to establish a list of available time slots, see student information, and make appointments without ever leaving their office. This online counseling appointment application provides students with media-related mental health activities and stress-coping skills that are relevant to the university’s counseling services. Specifically, it has the following features: (a) provides information to the students related to some guidance on how to cope with stress; (b) generates reports to be used by a guidance counselor in providing insight they need to effectively counsel so many students; and (c) helps the guidance counselor extend their counseling service to the student. The descriptive research approach was used with JavaScript as the scripting programming language and MySQL as the database. The prototyping software approach was also used, allowing the researcher to come up with additional ideas rapidly, improve on them quickly, and show users the feature and overall design concept before implementation. The evaluation findings show that the system was "excellent" in both evaluations using modified ISO 9126 software product quality standards, showing that the developed application met all of the required requirements of the software quality test from respondents. The mean and standard deviation were used to tabulate, analyze, and statistically treat the results. Overall, the results and feedback indicate a good impact on the needs of guidance counselors.

Uptake rate of carrier screening among consanguineous couples.

To quantify the uptake rates of Carrier Screening (CS) in consanguineous couples and compare this rate to that of non-consanguineous couples. We performed a matched case control study of 82 consanguineous couples seen at Rutgers-Robert Wood Johnson Medical school who were offered carrier screening between January 1, 2012 and October 10, 2022. We then matched each consanguineous female patient to a non-consanguineous female control patient who was also offered CS at the time of their genetic counseling appointment. A 2×2 contingency table analysis was used to compare rates of acceptance and declination between the consanguineous and non-consanguineous groups. The overall acceptance rate among consanguineous couples was 82.9%, whereas the overall acceptance rate among non-consanguineous couples was 56.1%. After statistical analysis, consanguineous couples were significantly more likely to accept CS as compared to non-consanguineous couples (OR=3.801, 95% CI; p<0.0001). We also report the carrier couple rates and individual carrier statistics between these two groups. This study supports the idea that consanguineous couples are more likely to pursue CS and have a higher carrier couple yield.

The majority of parents of children undergoing genetic testing report preference for earlier genetic counseling appointments.

In the Indiana University Health (IUH) Medical Genetics clinic, certified genetic counselors disclose genetic test results to patients by telephone. The wait-time between a result call-out and a follow-up appointment can vary from weeks to months depending on the medical geneticist's availability. Understanding the experiences that families face during these waiting periods can inform the field regarding what clinical improvements can be made to enhance patients' experiences. Our study explored three topics: the effects of wait-times on parents or patients between a result disclosure and medical genetics follow-up appointment, their anxiety levels during those wait-times, and suggestions for improving parents' and patients' experiences with genetics clinics. Patients or parents who were over 18 years old, who received an initial result call-out between May 2020 and September 2022 prior to a medical genetics follow-up appointment, and who had a diagnostic or a variant of uncertain significance (VUS) genetic test result were recruited for study participation. Individuals were surveyed on their diagnosis, wait-time following result disclosure, feelings during the wait-time, and preferences for result disclosures. The results showed that length of wait-time after a result call-out was not associated with increased anxiety; however, a background in genetics and support group involvement were associated with increased anxiety. The majority of respondents reported that if a genetic counseling-only appointment could occur closer to the time of results call-out, they would prefer to have a genetic counseling-only appointment with a second appointment for medical management with a geneticist later (58.1%). Based on these results, medical genetics clinics should consider implementing genetic counseling-only appointments to reduce wait-times for follow-up appointments.

Contradictions in the Regulation of the Provision of Legal Aid in the Indonesia Criminal Procedure Code

The regulation of the provision of legal aid in Indonesia for criminal cases that are threatened with the death penalty or the threat of a penalty of fifteen years or more or for those who are incapable who are threatened with a sentence of five years or more who must be accompanied by legal counsel is contradictory to the explanation of the article which states that it adjusts the development and availability of legal counsel in certain areas. The type of research used in this study is normative juridical research. Furthermore, the research approach in this study uses a statute approach. This research is descriptive, which makes a systematic depiction, in this case the regulation of the provision of legal aid in the Criminal Procedure Code along with the contradictions between the explanations of the articles. The author concludes, first, the arrangement for the provision of legal assistance by legal counsel is a clear provision and must be carried out by every apparatus involved in criminal cases that have been determined to be accompanied by legal counsel. Second, the explanation of the article explaining the obligation to provide legal aid should be replaced with the sentence "quite clear" or "the appointment of the legal counsel is adjusted to the domicile in the jurisdiction of the nearest District Court, or within the jurisdiction of the High Court concerned.

Protocol to evaluate sequential electronic health record-based strategies to increase genetic testing for breast and ovarian cancer risk across diverse patient populations in gynecology practices

BackgroundGermline genetic testing is recommended by the National Comprehensive Cancer Network (NCCN) for individuals including, but not limited to, those with a personal history of ovarian cancer, young-onset (< 50 years) breast cancer, and a family history of ovarian cancer or male breast cancer. Genetic testing is underused overall, and rates are consistently lower among Black and Hispanic populations. Behavioral economics-informed implementation strategies, or nudges, directed towards patients and clinicians may increase the use of this evidence-based clinical practice.MethodsPatients meeting eligibility for germline genetic testing for breast and ovarian cancer will be identified using electronic phenotyping algorithms. A pragmatic cohort study will test three sequential strategies to promote genetic testing, two directed at patients and one directed at clinicians, deployed in the electronic health record (EHR) for patients in OB-GYN clinics across a diverse academic medical center. We will use rapid cycle approaches informed by relevant clinician and patient experiences, health equity, and behavioral economics to optimize and de-risk our strategies and methods before trial initiation. Step 1 will send patients messages through the health system patient portal. For non-responders, step 2 will reach out to patients via text message. For non-responders, Step 3 will contact patients’ clinicians using a novel “pend and send” tool in the EHR. The primary implementation outcome is engagement with germline genetic testing for breast and ovarian cancer predisposition, defined as a scheduled genetic counseling appointment. Patient data collected through the EHR (e.g., race/ethnicity, geocoded address) will be examined as moderators of the impact of the strategies.DiscussionThis study will be one of the first to sequentially examine the effects of patient- and clinician-directed strategies informed by behavioral economics on engagement with breast and ovarian cancer genetic testing. The pragmatic and sequential design will facilitate a large and diverse patient sample, allow for the assessment of incremental gains from different implementation strategies, and permit the assessment of moderators of strategy effectiveness. The findings may help determine the impact of low-cost, highly transportable implementation strategies that can be integrated into healthcare systems to improve the use of genomic medicine.Trial registrationClinicalTrials.gov. NCT05721326. Registered February 10, 2023. https://www.clinicaltrials.gov/study/NCT05721326

Preventing Gestational Diabetes with a Healthy Gut Diet: Protocol for a Pilot, Feasibility Randomized Controlled Trial

Around 14% of pregnancies globally are affected by gestational diabetes mellitus (GDM), making it one of the most common disorders experienced by women in pregnancy. While dietary, physical activity and supplement interventions have been implemented to prevent GDM, with varying levels of success, altering the gut microbiota through diet is a promising strategy for prevention. Several studies have demonstrated that women with GDM likely have a different gut microbiota to pregnant women without GDM, demonstrating that the gut microbiota may play a part in glycemic control and the development of GDM. To date, there have been no randomized controlled trials using diet to alter the gut microbiota in pregnancy with the aim of preventing GDM. Here, we present the study protocol for a single-blind randomized controlled trial which aims to determine the effectiveness of the Healthy Gut Diet on reducing the diagnosis of GDM in pregnant women with one or more risk factors. Consenting women will be randomized into either the Healthy Gut Diet intervention group or the usual care (control) group after 11 weeks gestation. The women in the intervention group will receive three telehealth counseling appointments with an Accredited Practicing Dietitian with the aim of educating and empowering these women to build a healthy gut microbiota through their diet. The intervention was co-designed with women who have lived experience of GDM and incorporates published behavior change techniques. The control group will receive the usual care and will also be shown a brief (3 min) video on general healthy eating in pregnancy. The primary outcome is the diagnosis of GDM at any stage of the pregnancy. Secondary outcomes include changes to gut microbiota composition and diversity; gestational weight gain; maternal and infant outcomes; management of GDM (where relevant); dietary quality and intake; physical activity; and depression scoring. We aim to recruit 120 women over 16 months. Recruitment commenced in January 2023. The trial has been registered with the Australian New Zealand Clinical Trials Registry (ACTRN12622001285741).

An analysis of the impact of annual cancer genetic testing guideline updates on a past patient population.

Germline genetic testing for cancer predisposition genes has become an essential component of cancer treatment and risk reduction. The National Comprehensive Cancer Network (NCCN) releases annual genetic testing guidelines that identify characteristics of patients that could be affected by a hereditary cancer syndrome. These guidelines have broadened over time and the implications for past patients of cancer genetics clinics are not well understood. This study is a retrospective chart review aimed at determining the percentage and characteristics of past patients that meet updated NCCN guidelines (Breast, Ovarian, and Pancreas [BOP] v1.2022 and Colorectal [CRC] v1.2021), patients that attended a follow-up appointment, and patients who went on to receive genetic testing. Clinical data and characteristics were compared between the study population as a whole and the cohort of patients that met updated NCCN guidelines BOP v1.2022 and CRC v1.2021. The study population consisted of 280 patients with 76 (27.1%) patients meeting updated NCCN guidelines BOP v1.2022 and CRC v1.2021. The year of initial cancer genetic counseling appointment was statistically significant (p = 0.023) with patients more likely to meet NCCN guidelines BOP v1.2022 and CRC v1.2021 with earlier initial cancer genetic counseling appointments. In the cohort that met updated NCCN guidelines BOP v1.2022 and CRC v1.2021, the most common reason was a change in the NCCN guidelines (BOP or CRC) (54/76, 71.1%) with triple-negative breast cancer diagnosed at any age being the most impactful guideline change (19/54, 35.2%). Twenty-one patients attended a follow-up appointment (7.5%) and of those that received genetic testing (17/21, 81%) most received negative results (13/17, 61.9%), with one pathogenic, low penetrance result (1/17, 5.9%, CHEK2 p.I157T). Provider-initiated follow-up was attributed to most follow-up appointments (16/21, 76.2%) implying patients do not tend to follow-up on their own. Education to non-genetics providers as well as targeted implementation of follow-up protocols possibly managed by genetic counseling assistants and utilizing electronic medical record (EMR) patient messaging could lead to improved patient follow-up.

Evaluating interventions to increase the uptake of NCCN genetic counseling recommendations.

10599 Background: Genetic counseling for hereditary breast cancer remains underutilized despite increased access. The lack of identification and/or referral of high-risk women for genetic counseling is the major contributor to the poor uptake. A cancer risk assessment program (CRA) utilizing NCCN guidelines was implemented in our breast imaging department to identify women at increased risk for breast cancer. We analyzed the impact of informing all women who get a screening mammogram of their genetic mutation risk and the effect of nurse navigation on increasing the subsequent uptake of genetic counseling. Methods: To assess the effectiveness of these interventions, data from July 2021 to January 2022 was extracted from the EMR and grouped into cohorts based on nurse navigation contact and the completion of genetic counseling. A chi-squared analysis was performed to determine the significance of the results. Results: A total of 22,915 patients participated in the CRA program during the study period. 2,671 (11.7%) patients qualified for genetic counseling based on NCCN guidelines. 414 (15.5%) of these patients completed a genetic counseling appointment. 298 of these patients received genetic testing (72%) and 18 (4.3%) had a pathogenic mutation found. The nurse navigator was able to reach 1,288 (48%) of the 2,671 patients (Cohort A). Of these patients, 324 (25.2%) completed genetic counseling appointments compared to 90 of the 1,383 (6.5%) patients who were not contacted by the nurse navigator (Cohort B). Statistical analysis determined there was a significant difference in uptake of genetic counseling between Cohort A and Cohort B (p&lt;.0001). Conclusions: The implementation of the CRA program at the breast imaging center uncovered many patients who qualified for genetic counseling and testing based on NCCN guidelines. Genetic counseling uptake is significantly increased in patients who are reached by a Nurse Navigator. These interventions allowed for the discovery of unsuspected deleterious genetic mutations which require more aggressive screening to allow for the early detection of breast cancer and better overall prognosis. [Table: see text]

Cognitive information processing: synergizing theory, research and practice

ABSTRACT Cognitive information processing theory was born in response to a realisation the traditional method of individual, one hour counselling appointments prevented many college students from receiving needed support for their career decision making. Frustrated by this lack of access to career services, researchers, theorists and practitioners came together to create and provide the differentiated service delivery model. Thirty years and over 250 empirically-based articles later, CIP theory continues to synergistically inform research and practice across various venues, locations and populations. In this article, the authors, consisting of a team of CIP theorists, researchers and practitioners share practical examples, challenges, strategies to address those challenges, and recommendation on building a community of practice to address the praxis among these important elements.

Mode of delivery preference in prenatal genetic counseling between English- and Spanish-speaking patients at two US medical institutions.

Although Hispanic individuals are at an increased risk for various genetic conditions, they have lower uptake of genetic counseling and genetic testing. Virtual appointments have many advantages that may help Spanish-speaking patients access genetic services more readily. Despite these benefits, there are limitations that may make them less attractive options for these individuals. This study aimed to determine if satisfaction with genetic counseling or mode of delivery preference differs between English- and Spanish-speaking individuals who have had a virtual prenatal genetic counseling session. Participants were recruited from prenatal genetic counseling clinics at Indiana University Health and Eskenazi Hospital. A REDCap survey was sent to all eligible participants. Survey questions included mode of delivery preference for future genetic counseling sessions (virtual versus in-person), the validated Genetic Counseling Satisfaction Scale, and questions inquiring about the importance of various factors affecting mode of delivery preference. Spanish-speaking individuals preferred future visits to be in-person, while English-speaking individuals preferred future visits to be virtual (Fisher's exact p = 0.003). Several factors were associated with these preferences, including waiting time, ability to leave/take off work for an appointment, length of session, childcare arrangements, and people attending the appointment (all p < 0.05). Both language groups reported similar mean satisfaction with the genetic counseling provided during their previous virtual appointments (p = 0.51). This study found that certain aspects of virtual genetic counseling appointments make them less appealing to Spanish-speaking individuals. Making virtual genetic counseling appointments more appealing while continuing to offer in-person appointments may help Spanish-speaking individuals receive necessary genetics services. Continued research into disparities and barriers to telemedicine for Spanish-speaking patients is necessary to increase access to this service delivery model for genetic counseling.

Entrustment decision-making in genetic counseling supervision: Exploring supervisor and student perspectives to enhance training practices.

Entrustment decisions are an essential part of genetic counseling supervision and have the potential to influence a student's progression toward autonomy. However, there is often uncertainty among supervisors regarding how and when to make these decisions and very few studies have examined the impact of these decisions on students. This study utilized a mixed methods approach including surveys of genetic counseling supervisors (n = 76) and students (n = 86) as well as qualitative interviews with genetic counseling supervisors (n = 20) and students (n = 20) that explored factors that influence the entrustment decisions of genetic counseling supervisors and their effect on genetic counseling students. Genetic counseling supervisors and students were recruited from various organizations across the United States and Canada and represented a range of geographic regions, hospital systems, and genetic counseling programs. A hybrid process of deductive and inductive coding and thematic analysis was used to evaluate and interpret transcripts from the supervisor and student interviews. All participants identified advantages of increased autonomy during training. However, many supervisors reported low entrustment, seldom allowing students to complete unsupervised sessions or supervised cases without interruption. Entrustment decisions were heavily influenced by student ability and confidence, as well as patient feedback. Students emphasized the negative impact of decreased entrustment on their confidence and described clear benefits to increased autonomy before, during, and after the genetic counseling appointment. Supervisors identified various barriers to entrustment pertaining to the student, clinical setting, and the patient, whereas students more often emphasized barriers pertaining to themselves. Our results highlight a tension between the clear advantages of increased entrustment and autonomy and various barriers to the provision of these opportunities. Additionally, our data suggest several ways to enhance the supervisor-student relationship and promote additional learning opportunities to support student-centered supervision.