Digital genetic counseling services for cascade cardiogenetic testing.

Genetic Counseling and Testing for Pulmonary Arterial Hypertension in the United States

Aim Breast cancer is the most prevalent cancer in South African females, making up 27.1% of all histologically diagnosed cancers in 2020. Although genetic technology and awareness of genetic counselling have improved, genetic counselling services in South Africa remain largely inaccessible. Clinical genetic services are only formally available in four South African provinces and few outreach programmes exist for small towns and cities. Until 2019, genetic counselling services were unavailable in the North West province; however, since then, genetic counsellors from the National Health Laboratory Service and the University of the Witwatersrand have provided genetic counselling services to patients at the Breast Clinic at Potchefstroom Hospital regularly each year. Method The aim of this pilot study was to perform a retrospective file review and report on the implementation and outcomes of the genetic counselling service at the Breast Clinic at Potchefstroom Hospital, from its inception in 2019, until November 2022. Fifty-two patients attended a genetic counselling consultation during that period. Results The majority of patients (83.7%) were diagnosed with an invasive ductal carcinoma, and 57.7% of the patients had a family history of cancer. A total of 62.8% of patients had a histologic grade 3 tumour. A total of 25.5% (12/47) of patients tested positive for a pathogenic variant in BRCA1 or BRCA2. A total of 45 at-risk first-degree relatives were identified who could benefit from predictive testing. Conclusions This study highlights the benefit of offering clinical genetics services through outreach clinics. Being able to offer this service is not only beneficial for the management of the affected individuals, but also for their at-risk relatives. The initiative serves as a positive example of how limited resources can be extended to benefit patients.

Familial communication of results and cascade genetic testing (CGT) can extend the benefits of genetic screening beyond the patient to their at-risk relatives. While an increasing number of health systems are offering genetic screening as an elective clinical service, data are limited about how often results are shared and how often results lead to CGT. From 2018 to 2022, the Sanford Health system offered the Sanford Chip, an elective genomic test that included screening for medically actionable predispositions for disease recommended by the American College of Medical Genetics and Genomics for secondary findings disclosure, to its adult primary care patients. We analyzed patient-reported data about familial sharing of results and CGT among patients who received Sanford Chip results at least 1 year previously. Among the patients identified with medically actionable predispositions, 94.6% (53/56) reported disclosing their result to at least one family member, compared with 46.7% (423/906) of patients with uninformative findings (p < 0.001). Of the patients with actionable predispositions, 52.2% (12/23) with a monogenic disease risk and 12.1% (4/33) with a carrier status reported that their relatives underwent CGT. Results suggest that while the identification of monogenic risk during elective genomic testing motivates CGT in many at-risk relatives, there remain untested at-risk relatives who may benefit from future CGT. Findings identify an area that may benefit from increased genetic counseling and the development of tools and resources to encourage CGT for family members.

BackgroundPeople with inflammatory rheumatological disorders (IRDs) are at high risk of developing multimorbidity, specifically cardiovascular disease (CVD) and mood problems. UK guidelines advocate annual reviews for people with Rheumatoid Arthritis...

Background: Genetic knowledge has expanded significantly over recent decades, resulting in an enhanced comprehension of genetic diseases. The discipline of genetic counseling originated in the United States in 1969 at Sarah Lawrence College in New York and has subsequently achieved global dissemination. Notably, only a limited number of studies have examined the level of awareness regarding genetic counseling and genetic literacy. Genetic counseling is of paramount importance as it facilitates patients’ understanding and acceptance of complex genetic information and diagnostic outcomes, thereby enabling them to effectively manage the personal and familial ramifications. Furthermore, numerous impediments obstruct access to genetic services. A principal barrier is the insufficiency of specialized genetic knowledge among general healthcare practitioners, which undermines their ability to integrate genetic considerations into routine clinical practice. Objective: The objective of this study is to evaluate the perception of genetic knowledge and the level of awareness regarding genetic counseling and related genetic services among physicians and nurses in the North Al Sharqia region of Oman. Methods: This study aims to assess the genetic knowledge and the level of awareness regarding genetic counseling and related genetic services among doctors and nurses in Oman. Data were collected via a structured questionnaire administered in the North Sharqia region, with a total of 160 participants. The analysis of the collected data was performed using the SPSS statistical program. Results: There is a statistically significant association between the department in which participants work and their level of genetic knowledge (p = 0.009, p &lt; 0.01). Previous studies indicate that healthcare professionals in the pediatric department, including both doctors and nurses, tend to possess a higher level of genetic knowledge due to their increased exposure to children with genetic disorders. Additionally, there is a statistically significant association between exposure to genetic counseling and the level of awareness regarding genetic counseling and related services. This finding suggests that healthcare professionals with greater exposure to genetic counseling demonstrate enhanced awareness and understanding of the associated services. Conclusion: Compared to previous studies, there has been a notable improvement in genetic knowledge and the awareness of genetic services and counseling. Nevertheless, further efforts are warranted to elevate these aspects to higher standards. This study underscores the critical importance of genetic counseling and advocates for the broad dissemination of genetic knowledge through media channels, as well as its integration into the training programs for physicians and nurses. Moreover, it is essential to ensure that healthcare professionals are thoroughly informed about the services provided by genetic centers and the range of tests available at local health centers, particularly those pertinent to premarital counseling.

Introduction: Genetic knowledge has expanded significantly over recent decades, resulting in an enhanced comprehension of genetic diseases. The discipline of genetic counseling originated in the United States in 1969 at Sarah Lawrence College in New York and has subsequently achieved global dissemination. Notably, only a limited number of studies have examined the level of awareness regarding genetic counseling and genetic literacy. Genetic counseling is of paramount importance as it facilitates patients’ understanding and acceptance of complex genetic information and diagnostic outcomes, thereby enabling them to effectively manage the personal and familial ramifications. Furthermore, numerous impediments obstruct access to genetic services. A principal barrier is the insufficiency of specialized genetic knowledge among general healthcare practitioners, which undermines their ability to integrate genetic considerations into routine clinical practice. Objective: The objective of this study is to evaluate the perception of genetic knowledge and the level of awareness regarding genetic counseling and related genetic services among physicians and nurses in the North Al Sharqia region of Oman. Methods: This study aims to assess the genetic knowledge and the level of awareness regarding genetic counseling and related genetic services among doctors and nurses in Oman. Data were collected via a structured questionnaire administered in the North Sharqia region, with a total of 160 participants. The analysis of the collected data was performed using the SPSS statistical program. Results: There is a statistically significant association between the department in which participants work and their level of genetic knowledge (p = 0.009, p &lt; 0.01). Previous studies indicate that healthcare professionals in the pediatric department, including both doctors and nurses, tend to possess a higher level of genetic knowledge due to their increased exposure to children with genetic disorders. Additionally, there is a statistically significant association between exposure to genetic counseling and the level of awareness regarding genetic counseling and related services. This finding suggests that healthcare professionals with greater exposure to genetic counseling demonstrate enhanced awareness and understanding of the associated services. Conclusion: Compared to previous studies, there has been a notable improvement in genetic knowledge and the awareness of genetic services and counseling. Nevertheless, further efforts are warranted to elevate these aspects to higher standards. This study underscores the critical importance of genetic counseling and advocates for the broad dissemination of genetic knowledge through media channels, as well as its integration into the training programs for physicians and nurses. Moreover, it is essential to ensure that healthcare professionals are thoroughly informed about the services provided by genetic centers and the range of tests available at local health centers, particularly those pertinent to premarital counseling.

ACT-ON: Assisted cascade testing via outreach and navigation - Real-world experience with clinician-facilitated cascade testing.

BackgroundIn hereditary breast and ovarian cancer (HBOC), family communication of genetic test results is essential for cascade genetic screening, that is, identifying and testing blood relatives of known mutation carriers to determine whether they also carry the pathogenic variant, and to propose preventive and clinical management options. However, up to 50% of blood relatives are unaware of relevant genetic information, suggesting that potential benefits of genetic testing are not communicated effectively within family networks. Technology can facilitate communication and genetic education within HBOC families.ObjectiveThe aims of this study are to develop the K-CASCADE (Korean–Cancer Predisposition Cascade Genetic Testing) cohort in Korea by expanding an infrastructure developed by the CASCADE (Cancer Predisposition Cascade Genetic Testing) Consortium in Switzerland; develop a digital health intervention to support the communication of cancer predisposition for Swiss and Korean HBOC families, based on linguistic and cultural adaptation of the Family Gene Toolkit; evaluate its efficacy on primary (family communication of genetic results and cascade testing) and secondary (psychological distress, genetic literacy, active coping, and decision making) outcomes; and explore its translatability using the reach, effectiveness, adoption, implementation, and maintenance framework.MethodsThe digital health intervention will be available in French, German, Italian, Korean, and English and can be accessed via the web, mobile phone, or tablet (ie, device-agnostic). K-CASCADE cohort of Korean HBOC mutation carriers and relatives will be based on the CASCADE infrastructure. Narrative data collected through individual interviews or mini focus groups from 20 to 24 HBOC family members per linguistic region and 6-10 health care providers involved in genetic services will identify the local cultures and context, and inform the content of the tailored messages. The efficacy of the digital health intervention against a comparison website will be assessed in a randomized trial with 104 HBOC mutation carriers (52 in each study arm). The translatability of the digital health intervention will be assessed using survey data collected from HBOC families and health care providers.ResultsFunding was received in October 2019. It is projected that data collection will be completed by January 2023 and results will be published in fall 2023.ConclusionsThis study addresses the continuum of translational research, from developing an international research infrastructure and adapting an existing digital health intervention to testing its efficacy in a randomized controlled trial and exploring its translatability using an established framework. Adapting existing interventions, rather than developing new ones, takes advantage of previous valid experiences without duplicating efforts. Culturally sensitive web-based interventions that enhance family communication and understanding of genetic cancer risk are timely. This collaboration creates a research infrastructure between Switzerland and Korea that can be scaled up to cover other hereditary cancer syndromes.Trial RegistrationClinicalTrials.gov NCT04214210; https://clinicaltrials.gov/ct2/show/NCT04214210 and CRiS KCT0005643; https://cris.nih.go.kr/cris/International Registered Report Identifier (IRRID)PRR1-10.2196/26264

The Birth Defects/Congenital Malformations Register of the Victorian Department of Human Services contains detailed, confidential information on over 2,000 babies born with a birth defect each year in Victoria, Australia, representing approximately 3% of the annual number of births. For 1991 and 1993, the type of anomaly was categorised as warranting a high, moderate, or low need of referral for genetic counselling, depending on risk of recurrence and possible genetic cause. The Victorian Clinical Genetics Service at the Murdoch Institute, Melbourne, offers free, centralised genetic counselling services for the entire state. A comparison of case records between the two agencies has shown little difference in overall use of genetic counselling between 1991 (17%) and 1993 (16%). Rate of uptake in the "high need" category improved only slightly during that period, from 40% in 1991 to 43% in 1993. Utilization of genetic counselling services did not vary disproportionately with mother's country of birth, but was higher for older mothers. As was expected, rates were highest when a baby was born at the only hospital that provides on-site genetic counselling services. Even where a statewide genetic counselling service is in place, it is disappointing that over half of those judged at high need for genetic counselling are not making use of this service. This study will provide baseline information to which future studies can be compared. Using the same study methodology, it will be possible to examine whether the uptake rate increases in accordance with increased genetic services.

Background : Although cystic fibrosis (CF) is a common genetic condition, genetic counselling services appear to be underutilised by affected families. The aim of this study was to determine the uptake of genetic counselling and mutation testing for CF by relatives of affected individuals, and the impact of introducing hospital-based genetic counselling services. Method : The files of 153 families seen for genetic counselling for CF by staff of the Division of Human Genetics, School of Pathology, University of the Witwatersrand, and the National Health Laboratory Service (NHLS) in Johannesburg, were retrospectively reviewed from 1990 to 2006, the year when hospital-based genetic counselling services were introduced. Results : Parents of CF probands were the largest single group (35%) of counsellees. Most individuals (66%) attended genetic counselling to gather information. Most had been referred by medical specialists (56%). Only 10% of referrals originated from general practitioners. On average, from 1990-2005, six families received genetic counselling annually, whereas in 2006, 58 families were seen. In 140 unrelated families, 1 991 relatives with carrier risks of . 25% were identified. Only 11% of these relatives underwent mutation testing, and eight per cent received genetic counselling through our division over the review period. Conclusion : Overall, referrals of family members (of affected CF individuals) to genetic counselling, by general practitioners, are poor. Uptake of genetic counselling services is greater when such services are integrated into hospital-based CF management clinics, than when offered elsewhere. The low uptake of mutation testing and genetic counselling by at-risk relatives is a concern, since these relatives are at high risk of having affected children, if their partners are CF carriers. Education of affected individuals, their close relatives, and medical practitioners, should be prioritised. This will ensure referral to genetic counselling for discussion about the risks of and available testing for CF, and other genetic conditions.

Despite its clinical value, cascade genetic testing (CGT) in hereditary cancer syndromes remains underutilized for a number of reasons, including ineffective family communication of genetic risk information. Therefore, alternative strategies are being explored to improve CGT uptake rates; one such strategy is direct contact with at-risk relatives by healthcare professionals with proband consent. It is unclear how Italian laws and regulations pertaining to CGT-including the EU General Data Protection Regulation (GDPR)-should be understood and implemented in the context of such alternative strategies. The authors constructed a hypothetical case about CGT, reviewed laws and regulations on informed consent, privacy, and the right not to know, and analyzed how those laws and regulations might apply to different communicative strategies relevant to the case and aimed at supporting CGT. A constitutionally consistent reading of Italian law and of the GDPR, an integral part of the Italian privacy framework, suggests that multiple communicative approaches may be legally permissible in Italy to support the CGT process. This includes direct contact by healthcare professionals with proband consent, provided certain conditions are met. Understanding the effectiveness of such approaches in improving CGT uptake will require further research efforts.

BackgroundThe ue of digital health interventions (DHIs) for the management of cardiometabolic diseases has increased but may exacerbate existing health inequalities. Healthcare professionals (HCPs) play a vital role in recommending...

The present study examined caregivers' utilization of and experience with genetic counseling services for their children diagnosed with autism spectrum disorder (ASD). We surveyed 1063 caregivers from the Simons Foundation Powering Autism Research for Knowledge (SPARK). A logistic regression analysis was conducted in SPSS 29.0 to examine the factors associated with caregivers' utilization of genetic counseling for ASD. Caregivers' self-reported experience with the counseling services they received were analyzed using NVivo 14.0. Only 7.4% of the caregivers reported having received the genetic counseling services from genetic counselors, and most of the caregivers had limited awareness of genetic counseling services and knowledge of genetic testing. Caregivers' utilization of genetic counseling services was associated with several factors, including whether they had pursued genetic testing, the caregivers' awareness of genetic counseling services, their knowledge of genetic testing, and the presence of co-occurring intellectual disabilities. These findings underscore the critical role of improving awareness and access to genetic counseling services for families of children with ASD. Additionally, there is a critical need to support caregivers with clear, accessible information about genetic services for ASD. Healthcare providers - particularly pediatricians, developmental specialists, and genetic professionals are encouraged to take a more proactive role in initiating conversations with families about genetic counseling and testing, helping families make informed decisions. Enhancing communication and support around genetic services can better prepare caregivers to navigate the complexities of genetic testing.

To determine how US newborn dried bloodspot screening (NDBS) programs obtain patient-level data on clinical genetic counseling services offered to families of newborns identified through newborn NDBS and the extent to which newborns and their families receive these services. These data should serve to inform programs and lead to improved NDBS follow-up services. Collaborations were established with three state NDBS programs that reported systematically tracking genetic counseling services to newborns and their families identified through NDBS. A study protocol and data abstraction form were developed and IRB approvals obtained. Data from three state NDBS programs on a total of 151 patients indicated that genetic services are documented systematically only by metabolic clinics, most often by genetic counselors. Data from 69 endocrinology patients indicated infrequent referrals for genetic services; as expected higher for congenital adrenal hyperplasia than congenital hypothyroidism. Endocrinology patients were often counseled by physicians. While systematic tracking of genetic counseling services may be desirable for quality assurance of NDBS follow-up services, current systems do not appear conducive to this practice. Clinical records are not typically shared with NDBS programs and tracking of follow-up clinical genetic services has not been generally defined as a NDBS program responsibility. Rather, tracking of clinical services, while recognized as useful data, has been viewed by NDBS programs as a research project. The associated IRB requirements for patient-related research may pose an additional challenge. National guidance for NDBS programs that define quality genetic service indicators and monitoring responsibilities are needed. US experiences in this regard may provide information that can assist developing programs in avoiding tracking issues.

Despite increased awareness and availability of genetic testing for hereditary breast and ovarian cancer (HBOC) syndrome for over 20years, there is still significant underuse of cascade genetic testing among at-risk relatives. This scoping review synthesized evidence regarding psychosocial barriers and facilitators of family communication and/or uptake of cascade genetic testing in relatives from HBOC families. Search terms included 'hereditary breast and ovarian cancer' and 'cascade genetic testing' for studies published from 2012-2022. Through searching common databases, and manual search of references, 480 studies were identified after excluding duplications. Each article was reviewed by two researchers independently and 20 studies were included in the final analysis. CASP, RoBANS 2.0, RoB 2.0, and MMAT were used to assess the quality of included studies. A convergent data synthesis method was used to integrate evidence from quantitative and narrative data into categories and subcategories.Evidence points to 3 categories and 12 subcategories of psychosocial barriers and facilitators for cascade testing: (1) facilitators (belief in health protection and prevention; family closeness; decisional empowerment; family support, sense of responsibility; self-efficacy; supportive health professionals); (2) bidirectional concepts (information; perception of genetic/cancer consequences; negative emotions and attitude); and (3) barriers (negative reactions from family and negative family dynamics). Healthcare providers need to systematically evaluate these psychosocial factors, strengthen facilitators and alleviate barriers to promote informed decision-making for communication of genetic test results and uptake of genetic testing. Bidirectional factors merit special consideration and tailored approaches, as they can potentially have a positive or negative influence on family communication and uptake of genetic testing.