Hypertrophic cardiomyopathy (HCM) is a common hereditary condition affecting approximately 1 in 500 adults. It is characterized by marked clinical heterogeneity with individuals experiencing minimal to no symptoms, while others may have more severe outcomes including heart failure and sudden cardiac death. Genetic testing for HCM is increasingly available due to advances in DNA sequencing technologies and reduced costs. While a diagnosis of HCM is a well-supported indication for genetic testing and genetic counseling, incorporation of genetic services into the clinical setting is often limited outside of expert centers. As genetic counseling and testing have become more accessible and convenient, optimal integration of genomic data into the clinical care of individuals with HCM should be instituted, including delivery via genetic counseling. Drawing on recommendations from recent disease guidelines and systematic evidence reviews, we highlight key recommendations for HCM genetic testing and counseling. This practice resource provides a comprehensive framework to guide healthcare providers in the process of genetic test selection, variant classification, and cascade testing for genetic evaluation of HCM.

Previous studies have examined the perspectives of healthcare providers regarding their role in the transition process of pediatric patients with neurodevelopmental conditions (NDCs), but the perspective of a genetic counselor has yet to be considered. This study explored genetic counselors' current practices and attitudes regarding care for pediatric patients with NDCs as they transition into adult care. Genetic counselors (GCs) currently seeing patients with NDCs were recruited through a cross-sectional online survey. Questions included demographics, current practices with patients aged 0-15 years vs. patients 16-22 years, self-confidence, attitudes, and barriers regarding a genetic counselor's role in medical transition. A total of 51 surveys were included in the analysis. The majority (76.7%) of GCs were interested in playing a role in the transition process. Furthermore, all participants perceived transition planning for pediatric genetic patients with NDCs as somewhat important or important. Most GCs (70.0%) discussed topics of transition with patients over 18 years of age. These results demonstrate GCs' interest in assisting patients and families with the transition of individuals. Incorporating a genetic counselor skill set into transition discussions with patients with NDCs could improve the transition process and help to meet the standards of care called for by the American Academy of Pediatrics.

As indications for hereditary cancer genetic testing (GT) for patients with breast cancer (BC) expand, breast surgery teams offer GT to newly diagnosed patients to inform surgical plans. There is, however, limited data on the experiences of patients undergoing cancer GT by non-genetic providers. This study used in-depth interviews with 21 women recently diagnosed with BC at a large academic health system to capture their experiences. Post-positivist codebook thematic analysis was used to identify major themes from the interviews. Participants reported an overall positive experience of this GT process, stating that they prefer GT at an existing appointment shortly after their diagnosis, even though they described the conversation as brief. Many participants indicated thinking about or desiring GT before the offer was made. Interestingly, most participants did not see surgical decision-making as the main reason for GT and were instead motivated by concern for relatives and to have complete information. Interview data indicated areas for improvement in patient-provider communication, and most participants agreed that additional reference information on GT in the form of written or video materials would be helpful. Offering GT at an initial breast surgery appointment is acceptable and desired by patients with a new BC diagnosis and should be considered as a way to increase access to GT for these patients. However, additional information for patients is needed to close gaps in communication and provide a trustworthy reference following a busy medical appointment.

The purpose of the current study was to assess parent perceptions and experiences of genetic testing, as well as barriers for not undergoing testing in a sample of families of children with hearing loss. A 44-item questionnaire, The Parent Perception of Genetic Testing Questionnaire developed by the research study team was administered. Participants were recruited from a pediatric otolaryngology/audiology practice and social media. A total of 146 parents of children with hearing loss participated. Approximately 47.6% of the children in our sample underwent genetic testing, 44.8% did not, and 7.6% of parents were unsure. For those that did not undergo testing, reasons included: unaware (6.2%), not interested (8.9%), cost (8.9%), time (3.4%), fearful of results (2.7%), and never offered (15.1%). For those that did undergo testing, over half of the parents reported that they did not receive counseling before (55.1%) and 41.7% reported they received counseling after the testing. Furthermore, parents were confused about the results with 18.3% reporting they were Very Confused, 28.3% Somewhat Confused, 20% A Little Confused, and 33.3% Not Confused at All about the variant of uncertain or unknown significance. Notably, less than half of parents (43.4%) remembered what they were told about the mode of inheritance. Overall, our study highlighted the low adoption rate of genetic testing and lack of integration into standard of care for otology/audiology practices. Collaboration between hearing healthcare professionals and geneticists is warranted to determine how to reduce barriers to access while improving pre- and post-counseling.

In 2019, the Medical University of Innsbruck introduced the first Genetic and Genomic Counseling master's program in the German-speaking countries. A major challenge of this process was the absence of practicing Genetic Counselors (GC) in these countries, leading to a lack of experience with GCs in medical genetic services and the absence of a legal framework for the profession. Consequently, student placements within the program commenced with neither the students nor their supervising consultants having any previous experience of collaborative teamwork between clinical geneticists and GCs. To share insights from the initial implementation phase, supervising consultants from the seven student placement institutes were invited to participate in semi-structured interviews guided by open-ended questions. From these interviews, three models of interprofessional teamwork between GCs and clinical geneticists emerged: (1) the alternating or tandem model, (2) qualified preliminary and follow-up patient interviews, and (3) the provision of genetic (counseling) services without genetic counseling in the legal sense. In addition, the interviewees provided recommendations for addressing legal concerns and for the effective establishment of appropriate compensation structures for GCs within the German-speaking countries. Clinical geneticists taking part in the study estimated that the integration of GCs could potentially enhance their counseling capacity by as much as 50%. Importantly, they did not foresee any reduction in counseling quality caused by the inclusion of GCs. This study provides evidence that the GC profession can provide additional skills to human genetic services and positively impact both patient support and overall capacity of genetic services also in the German-speaking countries.

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.

There are minimal guidelines regarding the disclosure of XXY, otherwise called Klinefelter syndrome, in healthcare or within the family. The increased use of cell-free DNA (cfDNA) to screen for fetal aneuploidy and sex chromosomes bolsters the importance of providing genetic counselors, other healthcare professionals (HCPs), and parents with XXY-led disclosure information. The aim of this qualitative study was to discern the preferences of adults of XXY in the disclosure of XXY status across the lifespan to best inform the clinical and social aspects of their care. Fifteen semi-structured interviews were conducted with adults with XXY to gain their perspective on healthcare and support needs, the impact their care has had on their perception and acceptance of XXY, as well as their disclosure preferences across age groups. Interviews were coded and analyzed using reflexive thematic analysis through a social constructivist lens, from which four themes were generated: (1) lack of support within the healthcare system affects quality of care; (2) stigma and shame impacts XXY individuals' decisions to disclose information to others; (3) communication of XXY genetic results to children should be thoughtful and age-appropriate; and (4) attention to psychosocial needs is integral to comprehensive care. Novel findings of this study, which include the detrimental impacts of negative disclosure experiences on relationships with HCPs and self-identity, underscore specific clinical and social support needs for individuals with XXY. This study highlights the need for specialized support across one's lifespan, particularly within interdisciplinary clinics staffed by HCPs knowledgeable about the overall health of individuals with XXY. Participants stress the importance of empathetic delivery of XXY status and discussions on sex and gender to mitigate shame and stigma. Advocating for ongoing support services, including referrals to specialists and mental health resources, participants also endorse a personalized approach to childhood disclosure by parents, or in collaboration with HCPs, aiming to preserve trust, empower the child, and consider their maturity level. This study emphasizes the importance of providing tailored support to individuals with XXY, prioritizing informed decision-making, emotional well-being, and holistic care.

Genetic testing for breast cancer susceptibility genes (BRCA1/2) plays a pivotal role in risk assessment and preventive interventions. However, individuals' awareness, knowledge, and attitudes toward genetic testing can vary across different societies. This study focuses on understanding Turkish women's knowledge, perceptions, and attitudes toward BRCA1/2 testing, considering demographic factors and awareness. In this cross-sectional study, 301 Turkish participants, including breast/ovarian cancer patients and their first-degree relatives, were surveyed. Information on sociodemographics, cancer history, awareness, knowledge, and perceptions was collected. The study aimed to assess knowledge levels about breast cancer inheritance and BRCA1/2 testing, describe perspectives about testing in women with a family history of breast or ovarian cancer, and determine associations between knowledge, personal factors, anxiety, and genetic testing perspectives. Results showed a wide range in correct responses (31.6%-96.7%) for knowledge items. No significant relationship between knowledge levels and positive perception was observed. However, participants answering a specific question incorrectly showed higher negative perceptions. While most participants recognized the benefits of genetic testing, concerns centered around passing the genes to future generations. Participants who were younger, more educated, had higher income, were employed, at an earlier disease stage, and were social media users demonstrated more positive attitudes. Negative perceptions were higher among younger patients, physicians, and healthcare professionals. Interestingly, anxiety in cancer patients did not correlate with either positive or negative perceptions. In conclusion, this study identifies participant-related factors influencing perceptions of hereditary genetic tests. Understanding these factors and addressing associated issues can enhance the utilization of genetic testing and promote preventive oncology applications.

The conflation of race and genetic ancestry can have harmful consequences. Biological conceptualizations of race have long been used to justify inequities and distract from social structures that afford opportunities to some that are unjustly denied to others. Despite recent efforts within the scientific community to distinguish between the sociopolitical constructs of race and ethnicity and the biological constructs of genetic ancestry and genetic similarity, their conflation continues to influence genomic research and its translation into clinical care. One overlooked aspect of this problematic conflation is the extent to which discrete monoracial and monoethnic categorization systems persist and perpetuate unequal benefit-sharing in the clinical translation of genomic technologies. In genetic service delivery, reliance on discrete racial and ethnic categories undermines the clinical translation of genomic technologies for large segments of the global population. For multiracial and multiethnic individuals, who have complex identities that defy discrete categorization systems, the potential benefits of genomic discoveries are especially elusive. Scholars have recently begun to call for the inclusion of multiracial, multiethnic, and admixed individuals in race, ethnicity, and ancestry frameworks in genetics and genomics. However, little work has been done to explore and address the unique challenges and opportunities posed by multiracial/multiethnic individuals in genetic counseling specifically. We discuss how conceptualizing diversity along discrete racial and ethnic lines perpetuates inequitable patient care and limits efforts to increase inclusion and belonging within genetic counseling. Moreover, we argue that ongoing efforts to mitigate racial inequity must actively challenge the paradigm of monoracial and monoethnic categories to accomplish their goal.

Genetic counseling is an important component of pediatric cardiac care. The financial costs and benefits of this care have yet to be defined in the literature. Downstream revenue (DSR) analysis can be used to assess the economic impact of genetic counselors (GCs) at their institution beyond the initial patient contact. Previous literature has reported DSR generated by oncology GCs, but there is no published DSR data from a cardiac GC setting. This study measured the DSR generated at a private hospital following a cardiac GC appointment. A chart review identified patients seen by a cardiac GC between 2018 and 2022. The study population included patients and their pediatric relatives who had not previously seen a cardiologist. Patients were included if they were affected with or at-risk for long QT syndrome, hypertrophic cardiomyopathy, dilated cardiomyopathy, or familial thoracic aortic aneurysm at the time of the GC visit. We recorded the frequency of common cardiac services and calculated the reimbursement for all cardiology services for 1 year following the initial GC appointment. The cohort included 121 participants from 61 families. Most individuals were at-risk for (n = 114, 94.3%) rather than affected by an inherited cardiac condition and presented for screening. The total DSR was $247,592.27, with an annual median of $1819.50 per patient (IQR $0, $3761.33). Revenue was similar among individuals who had undergone genetic testing and those who had not. Among participants, 72 (59.5%) had subsequent cardiology services. Most frequently, a patient who presented for subsequent care had an EKG, an echocardiogram, and a cardiology appointment. While the economic contributions of GC services do not speak to the broader value of GC involvement in patient care, they are important metrics for sustainability. This study outlines an approach to evaluating DSR and establishes a baseline understanding of DSR related to cardiac GC services.

In Korea, genetic counseling services began with the opening of genetic clinics in the early 1990s; in recent years, demand for these services has increased. However, genetic counseling is not an officially recognized healthcare service under the Korean national health insurance system; further, its certification is not recognized as a medical qualification. To clarify the role and significance of genetic counselors, this study examined their field experiences. To this end, we conducted focus group interviews with 11 certified genetic counselors, six advanced practice nurses, and four regular nurses. The interviews were transcribed verbatim and examined using thematic analysis. We found that even though Korea did not recognize their roles, the participants met their responsibilities and primary duties. In addition, they faced challenges during counseling due to a lack of formal education in genetics and genomics. Moreover, they encountered dilemmas related to the legal and ethical aspects of decision support for family testing or prenatal diagnosis due to the complexity of rare genetic disorders. However, they attempted to acquire the specialized knowledge needed to support patients with rare genetic disorders and their families, gradually developing practical experience and specialized knowledge. Therefore, it is necessary to develop manuals, establish systems, and improve working environments to provide high-quality and specialized genetic counseling. Additionally, there is a need for national support, such as establishing set wages for genetic counselors, developing a national qualification certification system, and securing dedicated personnel.

As awareness of the value of genetic counseling services increases, there has been greater recognition of the need to diversify service delivery into different languages. Studies within genetic counseling and related fields have identified complications that can arise from language nonconcordance between provider and patient. A strategy to mitigate language barriers is prioritizing the development of a multilingual workforce of genetic counselors (GCs) who can communicate with patients in their preferred language. This exploratory study assessed the experiences of multilingual GCs who have practiced in a clinical role with the aim to identify relevant challenges and differences when counseling in their nondominant language. Statistical analysis was performed to identify differences in session tasks and emotions experienced when counseling in one's nondominant language versus their dominant language. Data analysis identified an increase in reported difficulty level for most clinical tasks while using a nondominant language, most notably for difficulty with psychosocial counseling, disclosing results, and administrative tasks. Participants were also surveyed on employer support and resources provided. Overall, results suggest that multilingual GCs may benefit from greater support in certain areas within clinical roles to enhance their ability to provide patient care in their nondominant language.

The purpose of this study was to assess the additional contribution of karyotyping compared with genome-wide non-invasive prenatal testing (NIPT) for pregnancies at intermediate risk for trisomy 21 (T21), calculated using the maternal serum screening without major structural anomalies detected through sonography. Karyotype results of all pregnancies undergoing invasive prenatal diagnostic testing between January 2013 and March 2022 were obtained from a large hospital-based laboratory. Pregnancies with no major structural anomalies on ultrasound (including soft markers) and an intermediate risk for T21 on maternal serum screening were included in this study. The additional contribution of karyotyping for abnormal karyotype results was calculated after excluding results that could theoretically be identified with genome-wide NIPT. Among the 511 pregnancies analyzed, 13 (2.54%) were found to have abnormal karyotype results, 9 (1.76%) of which could theoretically have been detected with genome-wide NIPT. Within the cohort, 6/263 (2.28%) of women aged 35 years and older, and 3/248 (1.20%) of women younger than 35 years had results that could have been detected with genome-wide NIPT. After excluding results detectable using genome-wide NIPT, the additional contribution of karyotyping was found as 4/502 (0.79%) for the entire cohort, 2/257 (0.77%) for women aged 35 years and older, 2/245 (0.81%) for women younger than 35 years. Of the 511 examined pregnancies at intermediate risk for T21 by maternal serum screening, genome-wide NIPT would have failed to detect 4 of 13 abnormal karyotype results. The findings hold importance in guiding couples' informed decision-making processes regarding their choice of genetic screening and diagnostic testing in case of intermediate risk for T21.

Genomic sequencing has been proposed as a strategy to expand newborn screening. Perspectives on genomic newborn screening from parents of diverse racial, ethnic, and socioeconomic backgrounds are needed to shape equitable implementation of this modality. We conducted 20 semi-structured interviews (15 English, 5 Spanish) and seven focus groups (4 English, 3 Spanish) with parents from diverse backgrounds to assess their perspectives regarding which disorders and variants might be screened, data privacy, and barriers to pursuing specialized care. Parents felt that genomic newborn screening would provide them with improved understanding of their children's health and had the potential to yield health and personal benefits. Themes that became evident included: interest in childhood and family health risks, the value of emotional preparation and personal planning, understanding of uncertain and low-risk results, concerns regarding data privacy, and concerns about support following the receipt of a positive newborn screening result. The expected benefits and concerns expressed by parents of diverse backgrounds regarding genomic newborn screening should guide future policy decisions. Their preferences should be considered prior to the implementation of large-scale genomic newborn screening programs.

This randomized controlled trial compares outcomes of telephone versus in-person genetic counseling service models in underserved, bilingual patient populations referred for cancer genetic counseling. Between 2022 and 2023, a two-arm (telephone vs. in-person genetic counseling) prospective, randomized controlled study with 201 participants was conducted at two county hospital cancer genetics clinics. Primary outcomes included comparison of pre- and post-genetic counseling genetics knowledge (Multi-dimensional Model of Informed Choice, MMIC), genetic counseling visit satisfaction (Genetic Counseling Satisfaction Scale, GCSS), and genetic counseling visit completion rates. Secondary outcomes included comparison of genetic testing attitudes and informed choice (MMIC), genetic counseling-specific empowerment (Genomic Outcomes Scale, GOS), and genetic testing completion and cancellation/failure rates, using linear regression models (significance ≤0.05). There were no statistically significant differences between arms in pre/post-genetic counseling MMIC knowledge and attitude, GOS or GCSS scores or genetic counseling completion. While more participants in the telephone versus in-person arm made an informed choice about testing (52.5% v. 39.0%, p = 0.0552), test completion was lower (74% v. 100%, p < 0.05) for this group. Genetic counseling completion rates and MMIC knowledge and attitude, GOS, and GCSS scores suggest telephone genetic counseling is comparable to in-person genetic counseling for underserved populations. Higher informed choice scores and significantly lower testing completion rates for telephone visits require further study.

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.

Some genetic counselors (GCs) may find theories, models, and frameworks (TMFs) useful in clinical skills selection and when reflecting on or evaluating genetic counseling practice. This paper aims to demonstrate how TMFs can be used to postulate how different skills may impact patients'/clients' decisions, behaviors, and outcomes and consider how multiple TMFs can inform the use of various skills or strategies to achieve different goals. Additionally, we provide examples of TMFs that may help GCs in nonclinical aspects of their work, such as implementing and evaluating new interventions or service delivery models. To guide the selection of appropriate TMFs, we provide a set of questions to consider and include examples of skills and approaches that align with different TMFs. While TMFs provide a structured approach and valuable guidance that may help advance genetic counseling practice, they have certain limitations. Additional research is necessary to determine the effectiveness of using TMFs to guide clinical practice and improve patient/client outcomes.

Huntington's disease (HD) is a neurodegenerative disease with autosomal dominant inheritance, and no radical cure for HD has been established. Qualitative studies are necessary to investigate the psychological state of individuals who underwent predictive testing for HD, because the psychosocial impact on noncarriers remains unclarified in Japan. Herein, we elucidated the psychosocial impact on the noncarriers for HD and the role of genetic counseling for predictive testing and follow-up after testing by examining their experiences with predictive testing. We conducted semi-structured interviews with eight individuals participating in this study. Interview data were transcribed verbatim and evaluated according to thematic analysis. As a result, 4 themes were generated from 21 categories of 46 codes: (1) Diversity of perceptions concerning the test results, (2) Views on life as a noncarrier, (3) Changes in feelings toward and relationships with family members, and (4) Sharing information within the family. After receiving the negative results, the noncarriers felt not only relief but also surprise, doubt, relief from tension, and regret. It was shown that noncarriers felt survivor's guilt toward many unspecified individuals, which was not only a sense of guilt but also a sense of mission or responsibility. Additionally, they conducted altruistic behavior as members of their family and society, that may be related to the Japanese collectivism. Some participants were concerned about sharing information with their siblings. Noncarriers for HD can experience complex psychological states, and Japanese people who prefer high-context communication may find it difficult to express their feelings and thoughts. It is important to understand their true feelings before and after the predictive genetic testing, reconsider the impact of being a noncarrier and whether it is a burden for them from both subjective and objective perspectives, and conduct long-term follow-up as needed.

The perceived personal control (PPC) questionnaire serves as an instrument to assess the concept of PPC, which refers to a person's perception of their ability to achieve positive outcomes while avoiding the negative effects of a given situation. Developed and used as a patient-reported outcome measure (PROM) in genetic counseling, the PPC questionnaire has been translated and validated in several languages, but not in French. The aim of this study was to cross-culturally adapt and validate a French version of the PPC questionnaire to evaluate genetic counseling services for hereditary breast and ovarian cancer (HBOC). After the translation into French, cognitive interviews were conducted with nine participants who had attended genetic counseling for HBOC to examine the adequacy of this French version and to verify participants' understanding of the questionnaire items. Cognitive interview data suggested that slight modifications should be made to four of the nine items and that it would be beneficial to add a short introduction to ensure that participants' interpretation corresponded to the intended meaning. Psychometric validation was then conducted with 99 participants who had also attended genetic counseling for HBOC. Counselees completed the questionnaire before and after their genetic consultation. The acceptability of the questionnaire was demonstrated by the presence of few missing items. The original three-factor solution was not confirmed by our exploratory factor analysis, suggesting that the questionnaire should be used as a one-dimensional instrument. The internal consistency of the questionnaire was high, with Cronbach's alpha of 0.89 before genetic counseling and 0.88 after. The significant increase in PPC scores before and after genetic counseling supports the responsiveness of the questionnaire. Convergent validity was confirmed by positive association with counselees' satisfaction with genetic counseling. These properties suggest the French PPC questionnaire is a valuable instrument for use as a PROM in genetic counseling research.

Pakistan with a population of approximately 200 million people faces a significant burden of genetic disorders. Higher preference for consanguinity (73%) is one of the significant reasons. Despite being a hub for rare genetic disorders, the country lacks professionally trained genetic counselors due to the absence of postgraduate degree programs or diplomas in genetic counseling. This shortage of specialized personnel results in inadequate and limited genetic counseling practices nationwide. This study aimed to highlight the urgent need for genetic counseling in Pakistan, focusing on the gaps within both society and the healthcare infrastructure. A survey-based study involving n = 101 participants was conducted to assess the demand for genetic counseling among medical professionals in Lahore, Pakistan. The study targeted five categories of medical specialists-gynecologists, oncologists, psychiatrists, pediatricians, and ultrasonologists-working in both private and public healthcare settings in Lahore. The survey included a questionnaire covering demographic information, 10 general questions, and a case study with follow-up questions. The survey was conducted both online and through in-person visits. Our findings reveal a significant lack of awareness among healthcare providers, with 91.1% of respondents unaware of any genetic counseling services or genetic counselors in Lahore. The research underscores the crucial role of genetic counselors, with the vast majority (99%) of specialists expressing an urgent need for their presence in Pakistan's healthcare system. This study highlights that only qualified genetic counselors can effectively address genetic issues. Furthermore, it advocates for the introduction of specialized professional training programs to address this pressing need in the country.

In Norway, genetic testing is permitted from the age of 16, and females identified with pathogenic variants in the BRCA1 or BRCA2 genes (BRCA PVs) can manage their cancer risk through screening programs and/or by undergoing risk-reducing surgery from the age of 25 years'. This qualitative study aimed to explore and describe how women under the age of 25 years' experience the genetic counseling and testing process for BRCA PVs and living with an increased cancer risk. Semi-structured individual interviews were conducted with five women with BRCA PVs. Thematic cross-case data analysis with systematic text condensation was used. Three main themes were identified: (1) experience with genetic counseling and testing, (2) impact of pathogenic variants on participants' future, and (3) social and psychological support needs. Women perceive genetic counseling as a source of information and care. The decision for genetic testing was made autonomously, both in line with and conflicting with the parents' wishes. Living with genetic risk adds a layer of worry and pressure regarding future decisions. Many experienced loneliness owing to a lack of contact with other young women with BRCA PVs. The results of this study indicate the need for better support after genetic testing, such as the need for educational support groups specially designed for these young women and a meeting place with their peers. Genetic counselors need to emphasize the opportunity for follow-up counseling and give assistance to choose suitable psychologists.