Acceptability of Telemedicine and Other Cancer Genetic Counseling Models of Service Delivery in Geographically Remote Settings

This work examined acceptability of cancer genetic counseling models of service delivery among Maine residents at risk for hereditary cancer susceptibility disorders. Pre-counseling, participants ranked characteristics reflecting models of care from most to least important including: mode-of-communication (in-person versus telegenetics), provider level of training (genetic specialty versus some training/experience), delivery format (one-on-one versus group counseling), and location (local versus tertiary service requiring travel). Associations between models of care characteristic rankings and patient characteristics, including rural residence, perceived cancer risk, and perceived risk for a hereditary cancer risk susceptibility disorder were examined. A total of 149/300 (49.7 % response rate) individuals from 11/16 Maine counties responded; 30.8 % were from rural counties; 92.2 % indicated that an important/the most important model of care characteristic is provider professional qualifications. Among other characteristics, 65.1 % ranked one-on-one counseling as important/the most important. In-person and local counseling were ranked the two least important characteristics (51.8 % and 52.1 % important/the most important, respectively). Responses did not vary by patient characteristics with the exception of greater acceptance of group counseling among those at perceived high personal cancer risk. Cancer telegenetic services hold promise for access to expert providers in a one-on-one format for rurally remote clients.     

Report from the National Society of Genetic Counselors Service Delivery Model Task Force: A Proposal to Define Models, Components, and Modes of Referral

The Service Delivery Model Task Force (SDMTF) was appointed in 2009 by the leadership of the National Society of Genetic Counselors (NSGC) with a charge to research and assess the capacity of all existing service delivery models to improve access to genetic counseling services in the context of increasing demand for genetic testing and counseling. In approaching this charge, the SDMTF found that there were varying interpretations of what was meant by "service delivery models" and the group held extensive discussions about current practices to arrive at consensus of proposed definitions for current genetic service delivery models, modes of referral and components of service delivery. The major goal of these proposed definitions is to allow for conversations to begin to address the charge to the committee. We propose that current models of service delivery can be defined by: 1) the methods in which genetic counseling services are delivered (In-person, Telephone, Group and Telegenetics), 2) the way they are accessed by patients (Traditional referral, Tandem, Triage, Rescue and Self-referral) and 3) the variable components that depend upon multiple factors unique to each service setting. This report by the SDMTF provides a starting point whereby standardized terminology can be used in future studies that assess the effectiveness of these described models to overcome barriers to access to genetic counseling services.     

A Comparison of Telephone Genetic Counseling and In-Person Genetic Counseling from the Genetic Counselor’s Perspective

Growing demand for and limited geographic access to genetic counseling services is increasing the need for alternative service delivery models (SDM) like telephone genetic counseling (TGC). Little research has been done on genetic counselors’ perspectives of the practice of TGC. We created an anonymous online survey to assess whether telephone genetic counselors believed the tasks identified in the ABGC (American Board of Genetic Counseling) Practice Analysis were performed similarly or differently in TGC compared to in person genetic counseling (IPGC). If there were differences noted, we sought to determine the nature of the differences and if additional training might be needed to address them. Eighty eight genetic counselors with experience in TGC completed some or all of the survey. Respondents identified differences in 13 (14.8 %) of the 88 tasks studied. The tasks identified as most different in TGC were: “establishing rapport through verbal and nonverbal interactions” (60.2 %; 50/83 respondents identified the task as different), “recognizing factors affecting the counseling interaction” (47.8 %; 32/67), “assessing client/family emotions, support, etc.” (40.1 %; 27/66) and “educating clients about basic genetic concepts” (35.6 %; 26/73). A slight majority (53.8 %; 35/65) felt additional training was needed to communicate information without visual aids and more effectively perform psychosocial assessments. In summary, although a majority of genetic counseling tasks are performed similarly between TGC and IPGC, TGC counselors recognize that specific training in the TGC model may be needed to address the key differences.     

Predictive Genetic Testing and Alternatives to Face to Face Results Disclosure: A Retrospective Review of Patients Preference for Alternative Modes of BRCA 1 and 2 Results Disclosure in the Republic of Ireland

The traditional model of providing cancer predictive testing services is changing. Many genetic centres are now offering a choice to patients in how they receive their results instead of the typical face-to-face disclosure. In view of this shift in practice and the increasing demand on the ROI cancer predictive testing service, a 2 year retrospective study on patient preference in how to receive a Breast Cancer (BRCA) predictive result was carried out. Results showed that 71.7 % of respondents would have liked to have the option of obtaining their results by telephone or by letter. However, when asked about their actual experience of BRCA predictive results disclosure 40.6 % did still value the face-to-face contact, while 44.9 % would still have preferred to receive results by either post or telephone. No significant difference was found between males and females (p?>?0.05) and those who tested negative or positive for the BRCA mutation (p?>?0.05) in wanting a choice in how their results were disclosed. While the majority expressed a wish to have a choice in how to receive their results, it is important not to underestimate the value of a face-to-face encounter in these circumstances.     

Clinical and Counseling Experiences of Early Adopters of Whole Exome Sequencing

Currently, there are limited data regarding the practice of genetic counseling for whole exome sequencing (WES). Improved understanding of how genetic counselors and other providers are educating, counseling, and communicating results may identify practice trends, and patient or provider needs. Between April 2013 and December 2014, we surveyed providers who ordered WES testing from GeneDx, a CLIA-certified laboratory. Forty-nine respondents completed the survey; 41 % of participants reported board certification in genetic counseling. Pre-test and post-test counseling was completed in all but one case each. Pre-test counseling lasted less than 1 h for 53 % of cases and 1 to 2 h for 43 %. Topics discussed with all patients included consent for testing, and incidental findings; other topics were variable. In contrast to pre-test counseling, 59 % reported post-test counseling lasting 1 to 2 h and 33 % less than an hour; post-testing counseling was significantly longer in cases with a definitive diagnosis than those without (p?=?0.0129). The survey findings indicate some variability regarding the amount of time spent on counseling and the topics discussed during pre-test counseling. Additional exploration, patient and provider educational resources, and potentially more specific guidelines regarding counseling for WES may be warranted.     

Effects of a Genetic Counseling Model on Mothers of Children with Down Syndrome: A Brazilian Pilot Study

Down syndrome occurs in approximately 1:600 live births. Genetic counseling is indicated for these families and may be beneficial for adaptation to the challenges that accompany by this diagnosis. Although the basic counseling goals are similar, there are many models of genetic counseling practiced around the world. The aim of this article is to report the results of a pilot study that evaluated the level of satisfaction with a model of service delivery of genetic counseling practiced in Brazil, the knowledge assimilated about Down syndrome and whether this process resulted in a feeling of well-being and psychological support. Thirty mothers of under 6-month-old children with Down syndrome were interviewed after having two sessions of genetic counseling in a public healthcare service within a period of 30 days. A semi-structured questionnaire was developed by the researchers to collect identification, socioeconomic and demographic data and to assess the client’s satisfaction with the model of genetic counseling. Data were collected using both open and closed questions. The reported level of satisfaction was high. The knowledge assimilated about Down syndrome after only two sessions was considered technically vague by raters in 44 % of cases. Most mothers (96.7 %) reported that genetic counseling was beneficial and provided psychological support. The model was considered satisfactory, but further research is needed to identify ways to improve knowledge retention by this population. These results highlight the utility of referring families for genetic counseling when there is a suspicion of a diagnosis of Down syndrome.     

Career support for migrants: Transformation or adaptation?

The complex interfaces created by migration not only challenge core beliefs about the purpose of career guidance and counseling but also about the precise nature and level of the support required for migrants. However, the issue has had little academic attention. While traditional theories informing the practice of career guidance and counseling implicitly reflect a commitment to social equality, they were developed in relatively homogenous Western capitalist contexts that were strongly individualized, masculine, secular, action and future focused. As career guidance and counseling services in more individualized countries seek to meet the needs of a growing number of clients from more collectivist cultures, the universal relevance of such models is increasingly open to challenge. This article explores three core challenges posed by migration for the theory and practice of career guidance and counseling. The first relates to the very purpose of these types of services for migrants; the second, to the way in which migration requires a realignment of the relationship of theory with practice; and the third relates to the need to redefine service delivery models for this client group. The extent to which notions of “quality” in services are culturally dependent will also be considered, together with the potential for general service improvements being stimulated by the provision of high quality services for migrants.     

A Balancing Act—Telehealth Cancer Genetics and Practitioners’ Experiences of a Triadic Consultation

Telehealth is increasingly used for outreach service in cancer genetic counseling; however what occurs during the consultation and the roles practitioners adopt is largely unknown. Fifteen practitioners participated in semi-structured interviews that explored their roles within telehealth, compared to face-to-face consultations, and the relationship between practitioners during telehealth. As they were not physically present with the patient, most participants felt that telehealth altered the genetic clinician’s role to one of a ‘visiting specialist’. Genetic counselors described undertaking multiple roles during the telehealth process. Two models of interaction were observed. The medical model reduced the interaction to a dyadic consultation by having the genetic counselor off-screen and included minimal clinician meetings and supervision. The triadic co-facilitation model incorporated a high level of information exchange, counselor autonomy and included the counselor onscreen. The co-facilitation model offers a useful framework for telehealth genetic counselling, offering complementary roles between practitioners and efficient service delivery.     

Genetic Counseling for Personal Genomic Testing: Optimizing Client Uptake of Post-Test Telephonic Counseling Services

The field of genetic counseling faces a broad challenge: many potential clients may not be aware of the value and benefit of genetic counseling services, and therefore may not utilize those services. Navigenics is a personal genomic testing company that provides telephonic genetic counseling services for multifactorial diseases and pharmacogenetics. When first offered in 2008, utilization of the Navigenics genetic counseling service was less than expected. To explore the basis for under-utilization and potential mechanisms for increasing uptake, Navigenics initiated a quality improvement study, in which three different methods of engaging clients in the uptake of genetic counseling services were assessed over the course of 1 year. Outcomes showed significant differences in uptake rates between methodologies (7.5%, 24.6%, and 60.1%), yielding an 8-fold increase in service utilization when post-test telephonic outreach to all clients was performed. Further, utilization spanned all risk levels based on client results, evidence that not only clients with high-risk results were motivated to engage in the genetic counseling service. This research indicates that implementing strategies to educate clients about genetic counseling can positively impact client engagement and utilization of available services.     

What Young People Want: A Qualitative Study of Adolescents’ Priorities for Engagement Across Psychological Services

This article examined commonalities in adolescents’ priorities for engagement with psychological support in the context of contemporary youth culture in New Zealand. These were explored across a range of different services including a face-to-face hospital-based mental health service, a face-to-face school-based counseling service, a telephone counseling service and a new form of counseling using mobile phone text. Interviews were conducted with 63 young people aged 13–18 who had used at least one of these services. A thematic analysis identified that there were common priorities for participants across the different services including their need to keep control; not to have their parents involved; to have a relationship with a counselor which was more like a friendship than a professional relationship; to talk freely and be listened to; and to have the service be accessible and flexible enough to fit around their lives. Text and telephone counseling were seen to be particularly appropriate for meeting some of these needs. Professionals working with young people should consider offering a suite of options for psychological support, allowing young people to balance their different needs and priorities and thus facilitate their engagement.     

远程心理健康服务：应用、优势及挑战

远程心理服务(Telepsychology)是利用远程通讯技术提供心理服务的新兴心理服务方式, 虽然在COVID-19疫情期间得到了广泛应用, 但仍缺乏相关行业应用规范及专业培训体系。现有的远程心理服务三维模型以应用环境、应用领域、应用方式为服务框架, 结合九个应用领域开展远程心理服务。我们根据已有研究提出了以咨询师、治疗方法、远程技术手段为主要因素、以来访者为中心的远程心理服务应用模型。人工智能在远程心理服务领域的应用主要包括三个方面：机器学习与人工神经网络、自然语言处理与情感分析、虚拟现实与增强现实。目前, 远程心理服务正以蓬勃的态势极速发展：其在提高心理服务督导效率、减少服务成本等方面有着显著优势, 同时在心理服务从业人员对远程心理服务的接受度、来访者的适应性、重视程度方面也面临着挑战。未来远程心理服务可以在监管体系、从业者培训、远程应用技术三个方面进行深入探索。     

Genetic Risk Assessment for Women with Epithelial Ovarian Cancer: Referral Patterns and Outcomes in a University Gynecologic Oncology Clinic

Little is known about genetic service utilization and ovarian cancer. We identified the frequency and outcome of genetic counseling referral, predictors of referral, and referral uptake for ovarian cancer patients. Using pathology reports, we identified all epithelial ovarian cancer patients seen in a university gynecologic oncology clinic (1/04–8/06). Electronic medical records (EMR) were used to document genetic service referral, time from diagnosis-to-referral, point-in-treatment at referral, personal/family cancer history, demographics, and genetic test results. Groups were compared using chi-squared and Fisher’s exact test for categorical variables and t-tests for continuous variables. The study population consisted of 376 women with ovarian cancer, 72 (19 %) of who were referred for genetic counseling/testing, primarily during surveillance. Of those referred, 42 (58 %) had personal or family genetic counseling and 34 (47 %) were ultimately tested or identified due to known family mutation. Family history and prior cancer were associated with referral. Family history, living in a larger community, higher-stage disease, and serous histology were associated with undergoing genetic counseling. Risk assessment identified 20 BRCA1/2 (5.3 %) and 1 HNPCC (0.3 %) mutation carriers. Based on recent estimates that 11.7–16.6 % of women with ovarian cancer are BRCA carriers and 2 % are HNPCC carriers, results suggest under-identification of carriers and under-utilization of genetic services by providers and patients. Interventions to increase medical providers’ referrals, even in a specialized oncology clinic, are necessary and may include innovations in educating these providers using web-based methods. Ease of referral by the introduction of an electronic cancer genetic referral form represents another new direction that may increase genetic risk assessment for high-risk women with ovarian cancer.     

Iceland—Genetic Counseling Services

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

Outplacement services for displaced employees: attitudes of human resource managers based on differences in internal and external delivery

The results from a survey of 238 human resources executives from organizations that offer outplacement counseling (OPC) internally and 168 that offer it externally suggest that internal OPC delivery is inferior to external OPC delivery. The author found that most internal OPC organizations did not offer the 13 traditional OPC services, even when they were viewed as important. However, both groups had deficiencies in measuring their OPC relative to gender, age, and effectiveness. Internal OPC organizations rated the quality of their OPC service as 4.77 on a scale of 10, whereas external OPC organizations rated their services as 7.96.     

The Children’s Attention-Deficit Hyperactivity Disorder Telemental Health Treatment Study: Caregiver Outcomes

The Children’s Attention-deficit Hyperactivity Disorder (ADHD) Telemental Health Treatment Study (CATTS) tested the hypotheses that children and caregivers who received guideline-based treatment delivered through a hybrid telehealth service delivery model would experience greater improvements in outcomes than children and caregivers receiving treatment via a comparison delivery model. Here, we present caregiver outcomes. 88 primary care providers (PCPs) in seven geographically underserved communities referred 223 children (ages 5.5 ? 12.9 years) to the randomized controlled trial. Over 22 weeks, children randomized to the CATTS service delivery model received six sessions of telepsychiatry and six sessions of caregiver behavior management training provided in person by community therapists who were trained and supervised remotely. Children randomized to the comparison Augmented Primary Care (APC) service model received management in primary care augmented by a single telepsychiatry consultation. Caregiver outcomes included changes in distress, as measured by the Patient Health Questionnaire (PHQ-9), Parenting Stress Index (PSI), Caregiver Strain Questionnaire (CSQ) and Family Empowerment Scale (FES). Caregivers completed five assessments. Multilevel mixed effects regression modeling tested for differences between the two service delivery models in caregiver outcomes from baseline to 25 weeks. Compared to caregivers of children in the APC model, caregivers of children in the CATTS service model showed statistically significantly greater improvements on the PHQ-9 (β?=?-1.41, 95 % CI?=?[?2.74, ?0.08], p?<?.05), PSI (β?=??4.59, 95 % CI?=?[?7.87, ? 1.31], p?<?.001), CSQ (β?=??5.41, 95 % CI?=?[? 8.58, ?2.24], p?<?.001) and FES (β?=?6.69, 95 % CI?=?[2.32, 11.06], p?<?.01). Improvement in child ADHD symptoms mediated improved caregiver scores on the PSI and CSQ. Improvement in child ODD behaviors mediated caregiver CSQ scores. The CATTS trial supports the effectiveness of a hybrid telehealth service delivery model for reducing distress in caregivers of children with ADHD and suggests a mechanism through which the service model affected caregiver distress.     

Development and Evaluation of a Telephone Communication Protocol for the Delivery of Personalized Melanoma Genomic Risk to the General Population

Communicating personalized genomic risk results for common diseases to the general population as a form of tailored prevention is novel and may require alternative genetic counseling service delivery models. We describe the development and evaluation of a communication protocol for disclosing melanoma genomic risk information to the asymptomatic general population and assess participants’ satisfaction and acceptability. Participants (n?=?117) were aged 22–69 years, living in New South Wales, Australia and unselected for family history. They provided a saliva sample and had genomic testing for melanoma for low to moderate penetrant melanoma susceptibility variants in 21 genes. Participants could choose to receive their results from a genetic counselor via telephone, followed by a mailed booklet or to receive their risk result via mailed booklet only with a follow-up call for those at high risk. A follow-up questionnaire was completed by 85% of participants 3-months later. Most participants (80%) elected to receive their result via telephone. Participants were highly satisfied with the delivery of results (mean 3.4 out of 4, standard deviation 0.5), and this did not differ by delivery mode, risk category, age or sex. On follow-up, 75% accurately recalled their risk category, 6% indicated a preference for a different delivery mode, either electronic or face-to-face. The process of disclosing genomic risk results to the general population over the telephone with accompanying written material was feasible and acceptable, and may be useful for communicating polygenic risk for common diseases in the context of increasing demands for genomic testing.     

Intervention Induced Changes in Perceptions of Parenting and Risk Opportunities Among Rural African American

A randomized prevention trial was conducted contrasting families who took part in the Strong African American Families Program (SAAF), a preventive intervention for rural African American parents and their 11-year-olds, with control families. The trial, which included 671 families, indicated that intervention-induced changes occurred in intervention-targeted parenting and youth behavior, as well as youth initiation of alcohol use and sexual activity. Four waves of data collected were obtained at pretest, 3-month post-test, 29 month long-term follow up; and 65 month long-term follow up. Three data points were selected and analyzed in the current study: pretest, post-test, and 65 month long-term follow up to capture the sustainability of SAAF during three critical developmental stages—middle childhood, early adolescence, and late adolescence. Intervention-induced changes in parenting mediated the effect of intervention-group influences on changes in the onset and escalation of alcohol use and sexual activity over 65 months through its positive influence on youths’ perceptions and internalization of parental norms and resistance to engaging in risk opportunities. These findings highlight the potential for family-based prevention programs to enhance positive developmental outcomes to reduce HIV-related risk behaviors among rural African American youth.     

The Views of Pakistani Doctors Regarding Genetic Counseling Services – Is there a Future?

Pakistan is a densely populated country in South Asia with a high burden of genetic disease. A dearth of medical genetic services exists and master’s level trained genetic counselors (GCs) are currently not a part of the healthcare system. This study is the first to determine the views of Pakistani medical doctors (MDs) towards genetic counseling services in Pakistan, including what manner a master’s level genetic counselor might be incorporated into the healthcare system. Fifty-one MDs practicing in the city of Karachi completed a self-administered survey of twenty questions. Of the 49 respondents who answered a specific question, 100 % (49/49) felt that they would refer at least some, if not all, of their relevant patients to a genetic’s clinic if one existed in Karachi. Overall, the respondents showed a positive attitude towards the provision of genetic counseling services as a part of the healthcare system of Pakistan. Some of the proposed roles identified specifically for GCs included: explaining how Down syndrome occurs (66.1 %), discussing genes associated with breast cancer (77.4 %), and explaining the inheritance pattern of β-thalassemia (65.5 %). In contrast, the review of medical and family history and discussion of medical procedures such as ultrasound and amniocentesis were typically seen as the role of a physician. A majority of the respondents (98 %) were in favor of premarital carrier screening for thalassemia and would refer patients to a GC to describe the importance of carrier screening (84.3 %) and to help explain carrier screening results (94.1 %). Many respondents selected GCs as the ideal provider of education and support for people with inherited conditions (43.8 %), followed by specialist MDs (26 %) and general physicians (22.9 %). Considering the high burden of genetic disease in the country, we encourage the development of genetic counseling services in Pakistan.     

The Relationship Between Religious Service Attendance and Coronary Heart Disease and Related Risk Factors in Saskatchewan, Canada

Research suggests that attending religious services could provide small yet important protective benefits against coronary heart disease (CHD) and CHD risk factors (e.g., diabetes, hypertension). The extent to which these benefits apply to Canada deserves study because approximately one-third of adult Canadians attend religious services at least monthly. Therefore, the objective of this study is to examine the association between frequency of religious service attendance and prevalence of (1) CHD, (2) diabetes, and (3) hypertension in Canada. We used the Saskatchewan sample (n = 5,442) of the Canadian Community Health Survey (CCHS-4.1) and built multivariable logistic regression models to evaluate associations between religious service attendance and self-reported CHD, diabetes, and hypertension. After controlling for demographic, socioeconomic and health behavior variables, the association between religious service attendance and prevalence of CHD was not significant (OR = 0.82; 95 % CI 0.61–1.11). However, persons who attended religious services more than once a week exhibited lower prevalence odds of diabetes (OR = 0.60; 95 % CI 0.45–0.80) and hypertension (OR = 0.82; 95 % CI 0.68–0.99) compared to persons who attended less than once a year. The findings of this study are the first to suggest religious service attendance may be associated with a lower prevalence of CHD risk factors in Canada.