A Capacity Audit of Medical Geneticists and Genetic Counsellors in South Africa, 2024: A National Crisis.

Community genetic services were introduced in South Africa almost seven decades ago, with medical geneticists and genetic counsellors being formally recognized for the past 30 years. Initial training platforms were established at academic centres countrywide, and posts for relevant healthcare professionals, including medical geneticists and genetic counsellors were created in the public sector. Despite these early advances, the number of these specialists required to address the rising burden of congenital disorders in the country remains far below required targets established by the National Department of Health. The aim of this study was to analyse the retrospective, current and projected number of medical geneticists and genetic counsellors in South Africa. The results indicate the number of practicing medical geneticists (n = 13) and genetic counsellors (n = 28) are currently at 10% and 5% of capacity targets, respectively. There is unequal distribution of these specialists between the public and private healthcare sectors, and geographical maldistribution. An alarming trend of emigration is particularly prevalent among newly qualified genetic counsellors. With the proportion of congenital disorders expected to continue to rise in coming years, together with the increasing proportion of ageing South Africans, it is imperative that health workforce planning addresses the ever-widening gap between the supply, demand and unmet need for these crucial specialists in South Africa.

Raising awareness and education of genetic testing and counseling through fotonovelas among Latina women at risk for hereditary breast and ovarian cancer.

Latinas are less likely to receive genetic counseling and genetic testing (GCT) compared to non-Latina Whites because of systemic and patient-level barriers. We developed and tested fotonovelas to increase awareness of GCT among Latinas at-risk of hereditary breast and ovarian cancer (HBOC). Content for the fotonovelas was drawn from an existing culturally targeted narrative video focused on improving GCT use among Latinas at-risk of HBOC. Using mixed methods, we interviewed cancer patients (n = 10) and their relatives (n = 10) to assess the preliminary efficacy of the fotonovelas through pre-and post-fotonovela items assessing self-rated knowledge of GCT and willingness to discuss cancer with family. Health workers (n = 10) provided feedback on the fotonovela content. McNemar's test was used to examine differences in the proportions of the outcomes pre- and post-fotonovelas. Interviews were transcribed and coded in Dedoose using a consensual qualitative research approach. Reading the fotonovelas increased self-rated knowledge of GCT by 22% (p = 0.16), from 50 to 60% in patients and from 63 to 100% among relatives. Analogously, reading the fotonovela increased willingness to talk about cancer with family by 33% (p = 0.02), from 70 to 100% in patients and from 38 to 75% in relatives. We identified six themes, some centered around the fotonovela's message, feedback, and perceived barriers to GCT. Overall, participants liked the use of fotonovelas to increase GCT awareness and cancer conversations with family. Fotonovelas could potentially be used as educational tools to increase GCT awareness and cancer conversations among Latino families at-risk of HBOC.

Sociodemographic and Clinical Characteristics Associated with Genetic Testing among Cancer Survivors: Evidence from Three Cancer Registries.

INTRODUCTION: Genetic tests, including germline and tumor (somatic) testing, can optimize the clinical care and outcomes for cancer patients and their family members. However, evidence on cancer patients' use of genetic testing and discussions about it with healthcare providers is limited. METHODS: Study participants included cancer survivors aged 18 or older, drawn from the 2021 Health Information and National Trends Survey (HINTS)-Surveillance, Epidemiology, and End Results (SEER) linked database, which comprises three US cancer registries: Iowa, New Mexico, and the Greater Bay Area. Sociodemographic factors (e.g., age, sex, income, education) at the time of the survey and clinical characteristics (e.g., cancer site, stage) at the time of diagnosis were compared based on self-reported genetic testing status and provider discussions, using survey design-adjusted analysis. RESULTS: The weighted study sample comprised 415,978 cancer survivors with a mean age of 70.5 years at the time of the survey. Overall, 17.0% reported having germline testing, 8.5% having tumor testing, and 8.6% discussing tumor testing with their healthcare providers. Higher proportions of germline genetic testing were observed among survivors under age 65 at the time of the survey, females, holding college degrees, and with private insurance coverage compared to their respective counterparts - males, aged 65 or above when surveyed, with lower educational attainment, and with public insurance or uninsured. The proportion of those who reported tumor testing was greater for those diagnosed in recent years (2015-2017 vs. before 2002). Regarding clinical characteristics, survivors with ovarian and breast cancers had a 7.0-36.4% higher prevalence of both testing compared to those with other cancer types lacking germline indication. More cancer survivors diagnosed at distant stages (vs. regional) or between 2015 and 2017 (vs. 2003-2010) reported having provider discussions about tumor testing. CONCLUSION: Findings showed that the highest reports of germline testing were among young female cancer survivors and those with higher education and private insurance. Survivors diagnosed in recent years or with advanced-stage disease were more likely to report discussing tumor testing with providers. Further research is warranted to better understand the barriers and educational needs of cancer patients, caregivers, and providers to optimize genetic testing strategies.

Access to clinical genetic services: An evaluation of patient referral characteristics and identifying barriers in Michigan.

The utilization of genetics in medical care has enhanced the utility of precision medicine and hence increased the need for clinical genetic services. These services have reduced the costs and expanded the availability of genetic testing, but their use is limited in certain populations. This study explores the access to clinical genetic services for Michigan patients referred to a genetics clinic on the western side of the state. Factors included the travel distance (miles), wait time for appointment (days from the referral date to the date of first appointment), population demographics, and cultural characteristics. A retrospective record review of all aged patients (n = 568) referred to a genetics clinic in 2018 demonstrated that all patients were insured (100%), of which majority were white-non-Hispanic (90.7%), more than half were < 10 years of age at referral (53.3%), and most of them kept their first appointment (93.5%). Our analysis showed that the wait time was associated with referral non-compliance, p < 0.01. Adjusting for all variables, for each additional day in wait time, patients had 1% increased risk of not seeking clinical genetic services (OR = 1.01, 90% CI [1.01, 1.02]). Policies to encourage genetic service utilization and improve equitable access to precision health are needed. An opportunity exists for strategies that broaden and add diverse populations to those receiving genetic services.

Access to genetic evaluation of 1463 individuals with orofacial cleft in Brazil.

OBJECTIVE: The current study delves into the accessibility of genetic evaluations for individuals with orofacial clefts (OC), comparing data between genetics and treatment centers across Brazil. METHODS: This cross-sectional retrospective study analyzed primary data from 1463 OC individuals registered in the Brazilian Database of Craniofacial Anomalies (BDCA) between 2008 and 2018 without age or sex selection. Diagnostic exam results stemming from research projects until 2023 were considered. RESULTS: Of the 1463 individuals with typical OC, 987 were non-syndromic, 462 were syndromic (SOC), 10 presented atypical forms, and three were not specified OC cases. The average age for accessing laboratory diagnosis was 8.5 years among SOC individuals. Notably, more SOC cases were registered in genetics centers than treatment and rehabilitation centers (37.1 % vs. 29 %, p = 0.0015). Those originating from genetics centers accessed diagnosis at an average age of 7.3 years, while those from treatment and rehabilitation centers experienced delays with an average age of 10.7 years (p = 0.0581). CONCLUSIONS: Irrespective of the center of origin, the data highlight delayed diagnosis and challenges in accessing genetic tests for the syndromic group. Given the widespread reliance on the public health system by most of the Brazilian population, disseminating this data can significantly contribute to shaping an informed perspective on healthcare access. These insights can improve public policies tailored to the unique needs of individuals with OC.

جِین(Gene): A Co-Designed Smartphone App for Genetics Education and Empowerment in the Pakistani Community.

In the Pakistani/British Pakistani community in England it is quite common for people to marry close cousin relatives, which can increase the chances of certain genetic problems in their children. Families in these situations often have little knowledge of genetics and encounter difficulties accessing genetic counselling services and culturally appropriate genetics information is needed to support these families. We describe the co-design of a prototype culturally sensitive smart phone app with the British Pakistani community, to improve understanding of genetics and genetic services.

Delivery of a national prenatal exome sequencing service in England: a mixed methods study exploring healthcare professionals' views and experiences.

Introduction: In October 2020, rapid prenatal exome sequencing (pES) was introduced into routine National Health Service (NHS) care in England, requiring the coordination of care from specialist genetics, fetal medicine (FM) and laboratory services. This mixed methods study explored the experiences of professionals involved in delivering the pES service during the first 2 years of its delivery in the NHS. Methods: A survey (n = 159) and semi-structured interviews (n = 63) with healthcare professionals, including clinical geneticists, FM specialists, and clinical scientists (interviews only) were used to address: 1) Views on the pES service; 2) Capacity and resources involved in offering pES; 3) Awareness, knowledge, and educational needs; and 4) Ambitions and goals for the future. Results: Overall, professionals were positive about the pES service with 77% rating it as Good or Excellent. A number of benefits were reported, including the increased opportunity for receiving actionable results for parental decision-making, improving equity of access to genomic tests and fostering close relationships between FM and genetics departments. Nonetheless, there was evidence that the shift to offering pES in a clinical setting had brought some challenges, such as additional clinic time, administrative processes, perceived lack of autonomy in decision-making regarding pES eligibility and difficulty engaging with peripheral maternity units. Concerns were also raised about the lack of confidence and gaps in genomics knowledge amongst non-genetics professionals - especially midwives. However, the findings also highlighted value in both FM, obstetric and genetics professionals benefiting from further training with a focus on recognising and managing prenatally diagnosed genetic conditions. Conclusion: Healthcare professionals are enthusiastic about the benefits of pES, and through multi-collaborative working, have developed relationships that have contributed to effective communication across specialisms. Although limitations on resources and variation in knowledge about pES have impacted service delivery, professionals were hopeful that improvements to infrastructure and the upskilling of all professionals involved in the pathway would optimise the benefits of pES for both parents and professionals.

Healthcare Professionals' Learning Needs and Perspectives on Essential Information in Genetic Cancer Care: A Systematic Review.

BACKGROUND: The increased demand for genetic testing and counseling necessitates healthcare professionals (HCPs) to improve their genetic competency through training programs. This systematic review identified HCPs' learning needs and their perspectives on essential information for families with hereditary cancer. METHODS: This review covered studies published from 2013 to 2024 across five databases. Data were analyzed using a content analysis. RESULTS: Thirteen studies involving 332 HCPs were analyzed. Most studies focused on the learning needs of physicians caring for families affected by Hereditary Breast and Ovarian Cancer in North America and Europe. HCPs required training emphasizing practical counseling skills over the basics of genetics. Learning needs varied by profession: physicians needed training in assessing cancer risk and supporting decision-making in risk management; nurses required information on resources and the genetic care system; genetic counselors sought guidance on family communication and planning. Essential information identified for families included risk-reducing strategies, personalized cancer risk assessment, family implications, psychological issues, (cascade) genetic testing, and social concerns. CONCLUSIONS: The findings have implications for the development of training programs for HCPs, emphasizing the need for tailored training based on professions. Future research should explore the needs of HCPs caring for families with diverse hereditary cancers and cultural backgrounds.

Current approach to genetic testing and genetic evaluation referrals for adults with congenital heart disease.

Background: Congenital heart disease (CHD) is the most common congenital anomaly. Up to 33% have an identifiable genetic etiology. Improved medical and surgical management of CHD has translated into longer life expectancy and a rapidly growing population of adults living with CHD. The adult CHD (ACHD) population did not have access during childhood to the genetic technologies available today and therefore have not had a robust genetic evaluation that is currently recommended for infants with CHD. Given this potential benefit; the aims of this study were to determine how ACHD cardiologists offer genetics services to patients and identify the indications that influence decision-making for genetics care. Methods: We performed a descriptive cross-sectional study of ACHD cardiologists. A study-developed questionnaire was distributed via emailed REDCap link. The recruitment email was sent to 104 potential respondents. The survey was open from 06/2022 to 01/2023. Results: Thirty-five cardiologists participated in the study (response rate of 34%). Most cardiologists identified as white (77%) and male (66%). Cardiologists were more likely to refer patients to genetics (91%) than to order testing themselves (57%). Of the testing ordered, chromosomal testing (55%) was ordered more than gene sequencing (14%). Most cardiologists would refer a patient with a conotruncal lesion (interrupted aortic arch) over other indications for a genetics evaluation. There were more reported barriers to ordering genetic testing (66%) compared to referring to genetics for a genetics evaluation (23%). Cardiologists were more confident recognizing features suggestive of a genetic syndrome than ordering the correct test (p = 0.001). Regarding associations between clinical factors and current practices, more years in practice trended towards less referrals and testing. Evaluating a greater number of patients (p = 0.11) and greater confidence recognizing syndromic features (p = 0.12) and ordering the correct test (p = 0.09) were all associated with ordering more testing. Conclusion: Testing for microdeletion syndromes is being offered and completed in the ACHD population, however testing for single-gene disorders associated with CHD is being under-utilized. Developing guidelines for genetic testing in adults with CHD could increase access to genetic services, impact medical management, reduce uncertainty regarding prognosis, and inform recurrence risk estimates.

Exploring Public Knowledge, Attitudes, and Barriers to Using Genetic Services in Damanhur City and Beni-Suef City, Egypt: A Cross-Sectional Study.

BACKGROUND: Advancements in genetic disorder management mark a transformative era in healthcare. This study aimed to assess knowledge, attitudes, and barriers to using genetic services among the Egyptian population. METHODS: A cross-sectional study was used to achieve the aim of the study. A convenient sample was used to involve 385 residents of Damanhur City and Beni-Suef City to represent Upper and Lower Egypt. A validated questionnaire covering socio-demographic details, genetic knowledge, attitudes, and perceived barriers to using genetic services was used. RESULTS: Regarding genetic knowledge, 70.9% of the participants reported an unsatisfactory level of knowledge about genetics. Furthermore, 67.6% expressed a negative attitude toward genetic services. Concerns about whether the test result is positive were the most common obstacle, cited by 64.94% of participants, followed by cost, which 60.78% of people found to be a major barrier. Significant associations emerge between socio-demographic factors and awareness levels. CONCLUSION: The findings illuminate significant gaps in knowledge and attitude levels where less than a third of the participants had a satisfactory level of knowledge and about one-third had a positive attitude regarding genetic testing. Barriers such as concerns about treatment strategies, financial constraints, and conflict with personal beliefs emerge as critical obstacles. The identified associations between socio-demographic factors and awareness levels underscore the need for targeted interventions tailored to specific demographic groups. RECOMMENDATIONS: This study recommends developing and implementing culturally sensitive awareness campaigns about genetics tailored to the specific demographic characteristics of the Egyptian population.

Genetics providers' perspectives on the use of digital tools in clinical practice.

PURPOSE: Digital tools are increasingly incorporated into genetics practice to address challenges with the current model of care. Yet, genetics providers' perspectives on digital tool use are not well characterized. METHODS: Genetics providers across Canada were recruited. Semistructured interviews were conducted to ascertain their perspectives on digital tool use and the clinical practice factors that might inform digital tool integration. A qualitative interpretive description approach was used for analysis. RESULTS: Thirty-three genetics providers across 5 provinces were interviewed. Participants had favorable attitudes toward digital tool use. They were open to using digital tools in the pretest phase of the genetic testing pathway and for some posttest tasks or in a hybrid model of care. Participants expressed that digital tools could enhance efficiency and allow providers to spend more time practicing at the top of scope. Providers also described the need for careful consideration of the potential impact of digitalization on the clinician-patient dynamic, access to and equity of care, and unintended digital burden on providers. CONCLUSION: Genetics providers considered digital tools to represent a viable solution for improving access, efficiency, and quality of care in genetics practice. Successful use of digital tools in practice will require careful consideration of their potential unintended impacts.

Navigating the Genetic Frontier for the Integration of Genetic Services into African Healthcare Systems: A scoping review.

Background: The integration of genetic services into African healthcare systems is a multifaceted endeavor marked by both obstacles and prospects. This study aims to furnish evidence-based recommendations for policymakers and healthcare entities to facilitate the effective assimilation of genetic services within African healthcare systems. Methods: Employing a scoping review methodology, we scrutinized peer-reviewed studies spanning from 2003 to 2023, sourced from PubMed, Scopus, and Africa-wide databases. Our analysis drew upon eight pertinent research studies conducted between 2016 and 2023, encompassing diverse genetic topics across six African nations, namely Cameroon, Kenya, Nigeria, Rwanda, South Africa, and Tanzania. Results: The reviewed studies underscored numerous challenges hindering the implementation of genetic services in African healthcare systems. These obstacles encompassed deficiencies in disease awareness and education, impediments to genetic testing, resource scarcities, ethical quandaries, and issues related to follow-up and retention. Nevertheless, the authors also identified opportunities and strategies conducive to successful integration, emphasizing proactive measures such as community engagement, advocacy, and the fostering of supportive networks. Conclusion: The integration of genetic services in Africa holds promise for enhancing healthcare outcomes but also poses challenges and opportunities for healthcare and biotechnology enterprises. To address gaps in disease awareness, we advocate for healthcare providers to invest in educational initiatives, forge partnerships with local institutions, and leverage digital platforms. Furthermore, we urge businesses to innovate and devise cost-effective genetic testing models while establishing online forums to promote dialogue and contribute positively to African healthcare.

The ENGAGE study: a 3-arm randomized hybrid type 1 effectiveness and implementation study of an in-home, collaborative PCP model of remote telegenetic services to increase uptake of cancer genetic services in childhood cancer survivors.

BACKGROUND: Germline cancer genetic testing has become a standard evidence-based practice, with established risk reduction and screening guidelines for genetic carriers. Access to genetic services is limited in many places, which leaves many genetic carriers unidentified and at risk for late diagnosis of cancers and poor outcomes. This poses a problem for childhood cancer survivors, as this is a population with an increased risk for subsequent malignant neoplasms (SMN) due to cancer therapy or inherited cancer predisposition. The ENGaging and Activating cancer survivors in Genetic services (ENGAGE) study evaluates the effectiveness of an in-home, collaborative PCP model of remote telegenetic services to increase uptake of cancer genetic testing in childhood cancer survivors compared to usual care options for genetic testing. METHODS: The ENGAGE study is a 3-arm randomized hybrid type 1 effectiveness and implementation study within the Childhood Cancer Survivor Study population which tests a clinical intervention while gathering information on its delivery during the effectiveness trial and its potential for future implementation among 360 participants. Participants are randomized into three arms. Those randomized to Arm A receive genetic services via videoconferencing, those in Arm B receive these services by phone, and those randomized to Arm C will receive usual care services. DISCUSSION: With many barriers to accessing genetic services, innovative delivery models are needed to address this gap and increase uptake of genetic services. The ENGAGE study evaluates the effectiveness of an adapted model of remote delivery of genetic services to increase the uptake of recommended genetic testing in childhood cancer survivors. This study assesses the uptake in remote genetic services and identify barriers to uptake to inform future recommendations and a theoretically-informed process evaluation which can inform modifications to enhance dissemination beyond this study population and to realize the benefits of precision medicine. TRIAL REGISTRATION: This protocol was registered at clinicaltrials.gov (NCT04455698) on July 2, 2020.

Medical students' self-perceived knowledge and clinical comfort with genetics in Pakistan.

Pakistan has a high rate of genetic disorders and neonatal mortality concurrent with noted lack of genetic counselors and geneticists. To meet the needs of the patient population, the responsibility of providing clinical genetic services falls on general and specialty physicians. However, their education regarding these essential services is not standardized in medical school curricula nor has it ever been evaluated. The purpose of this work is to describe the self-perceived knowledge, clinical comfort, and perspectives of Pakistani medical students toward their medical genetics' education. A web-based survey was distributed electronically to medical schools around the country. The survey comprised of four sections: (1) participant demographics, (2) self-perceived medical genetics knowledge, (3) level of comfort in applying genetic knowledge and skills, and (4) attitudes toward medical genetics education. Descriptive statistics and a one-way analysis of variance were used for data analysis. Medical students in years 3, 4, and 5 (n = 473) from 25 medical schools participated in this research representing medical education in four Pakistani provinces. Most medical students reported "minimal" to "basic" knowledge of genetic testing methodology (64.7%), cancer genetics (64.9%), prenatal genetic testing (63.02%), and treatment strategies for genetic disease (72.9%). A plurality of students (37%) reported they were uncomfortable with interpreting and communicating genetic test results to patients. Medical students also expressed dissatisfaction with their medical genetics (40%) and genetic counselors training (42%). The self-perceived knowledge and clinical comfort with genetics among Pakistani medical students was limited, especially regarding genetic testing. A significant portion (74.5%) expressed desire for additional genetics education during medical school to aid in their role as future physicians. It is important for physicians-in-training to have a solid understanding of genetic concepts, technologies, and genetic counseling to best support their patients. As endorsed by the participating medical students, this study supports inclusion of more robust genetics' education into Pakistan's medical school curricula.

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.

Perceived barriers, recommendations, and resources for multistate licensure in the United States: A mixed-methods study of laboratory genetic counselors.

With genetic counselor licensure now available in 32 states, the number of laboratory genetic counselors (LGCs) who are required to be licensed in multiple states has risen substantially. Although previous studies have documented the complexity of the multistate licensing (MSL) process, there has been little research on the experiences of LGCs applying for and maintaining licensure. The purpose of this study was to identify perceived barriers, recommendations, and resources for LGCs pursuing MSL. A 15-item mixed-methods, anonymous questionnaire was used to survey genetic counselors currently or formerly employed by genetic testing laboratories. Responses were analyzed with a combination of descriptive statistics and inductive thematic analysis. Of the 150 eligible participants who completed the survey, the majority worked at a commercial, non-academic laboratory (84%, n = 126), had 1-4 years of laboratory genetic counseling experience (54%, n = 81), held non-patient-facing roles (65%, n = 97), and were required by their employer to hold licensure in at least one state (73%, n = 110). Most participants (86%, n = 129) felt there were barriers to MSL for LGCs, with three emergent themes: (1) resource burden, (2) complexity, and (3) legislative ambiguity. Participants described the current MSL process as tedious, cumbersome, confusing, overwhelming, and redundant. Several shared that the current licensing system undermines the intent to improve the status of the profession and actually negatively impacts patient care. Recommendations to improve MSL included overall process enhancements, like transitioning to online systems and a single central information repository for licensees, increased professional advocacy, and investing in collaborative pathways to licensure such as interstate compacts. Participants found national genetic counseling organizations, state-based genetic counseling organizations, and genetic counseling colleagues to be the most helpful resources for understanding licensure law and where to apply for licensure.

Genetic services survey-experience of people with rare diseases and their families accessing genetic services in the Irish Republic.

Irish Health Service objectives state that patients with rare diseases should have timely access to genomic diagnostics with appropriate pre and post-test counselling. However, waiting times for clinical genetics outpatient appointments, during the study period, were up to two years as staffing levels remain low. A targeted public online survey was conducted in January 2022 to capture the experiences of Rare Disease families trying to access genetic testing and clinical genetic clinics in the Irish Republic. Irish patients experience significant waiting times to access clinical genetic services and self-report anxiety and stress, related to delayed access to diagnosis, clarity around recurrence risk and follow-up management. This negatively impacts personal decisions around family planning, education and employment and has a significant impact on family members seeking clarity on their own risk. Mainstream genetic testing activity is significant. Families report concern over the competency of health care professionals arranging and delivering genetic results and delays in accessing clinical genetics expertise to take them through the clinical implications. Timely access to clinical genetics expertise is important to ensure families with rare diseases have an appropriate understanding of the medical and reproductive implications of a genetic diagnosis and access to relevant care pathways. A national framework to develop competency in genomic literacy for health-care professionals including a national genetic test directory may be beneficial. Clinical genetics teams require ongoing support and investment to ensure the delivery of a safe and effective service for Irish families with rare diseases.

Workforce Implications of Increased Referrals to Hereditary Cancer Services in Canada: A Scenario-Based Analysis.

Over the last decade, utilization of clinical genetics services has grown rapidly, putting increasing pressure on the workforce available to deliver genetic healthcare. To highlight the policy challenges facing Canadian health systems, a needs-based workforce requirements model was developed to determine the number of Canadian patients in 2030 for whom an assessment of hereditary cancer risk would be indicated according to current standards and the numbers of genetic counsellors, clinical geneticists and other physicians with expertise in genetics needed to provide care under a diverse set of scenarios. Our model projects that by 2030, a total of 90 specialist physicians and 326 genetic counsellors (1.7-fold and 1.6-fold increases from 2020, respectively) will be required to provide Canadians with indicated hereditary cancer services if current growth trends and care models remain unchanged. However, if the expansion in eligibility for hereditary cancer assessment accelerates, the need for healthcare providers with expertise in genetics would increase dramatically unless alternative care models are widely adopted. Increasing capacity through service delivery innovation, as well as mainstreaming of cancer genetics care, will be critical to Canadian health systems' ability to meet this challenge.

A Genetic Counselor's Reflections on Lessons Learned, Challenges, and Successes Experienced during a One-Year Pilot Integration in a Primary Care Clinic.

This practice-related insight article describes the experience of a genetic counselor being integrated into a multidisciplinary primary care clinic that provides care for a predominantly marginalized patient population in Victoria, British Columbia, Canada. Reflections on the lessons learned, including challenges and successes during this 1-year pilot integration are shared by the genetic counselor in the context of exploring the potential value a genetic counselor can provide while embedded in a primary care clinic. The relationship between clinical genetic counseling practice and a culturally safe and trauma-informed approach in primary care is explored, and additional steps are described that can be taken to facilitate more equitable and inclusive access to genetic counseling services for underserved and vulnerable patient populations.