Preimplantation genetic testing for structural rearrangements (PGT-SR) is an important reproductive option for carriers of balanced reciprocal translocations. However, financial barriers may limit access, highlighting the need for decision support that considers patients' values and socioeconomic circumstances alongside genetic risks. A man in his early thirties was diagnosed with a balanced reciprocal translocation during evaluation for severe oligozoospermia. Genetic counseling addressed genetic risks, the benefits and limitations of PGT-SR, prenatal testing options, anticipated treatment outcomes, and financial burdens. Through shared decision-making (SDM), the couple weighed reducing genetic risks against maintaining their ability to continue treatment. Despite concerns about genetic risks, they prioritized avoiding treatment discontinuation due to financial burdens and chose intracytoplasmic sperm injection covered by public health insurance without PGT-SR. Additional counseling was provided after repeated unsuccessful single embryo transfers. After considering the risks of twin pregnancy and the limit on the number of embryo transfers covered by insurance, the couple chose double embryo transfer. Following conception, they declined invasive prenatal diagnosis because of concerns about procedure-related miscarriage and chose noninvasive prenatal testing (NIPT), understanding that it could not assess chromosomal imbalances arising from the paternal translocation. NIPT results were negative for trisomies 21, 18, and 13. Dichorionic diamniotic twins were delivered at 35 weeks of gestation. Postnatal chromosomal testing was not performed at the couple's request. Neither infant had any apparent congenital anomalies on physical examination at birth. The decision-making process was retrospectively examined using Elwyn et al.'s three-talk model. Although the effectiveness of SDM cannot be assessed from a single case, this report illustrates how genetic counseling linked medical information with the couple's priorities and provided ongoing support for decisions as treatment and pregnancy progressed under financial constraints.
As genomic technologies become increasingly integrated into healthcare worldwide, the demand for culturally and linguistically competent genetic counselors is rapidly expanding. In many regions, however, demand for these professionals far exceeds the availability of local training programs. Traditional solutions, reliance on non-local expatriate professionals or sending trainees abroad, are often costly, logistically complex, and poorly aligned with local sociocultural contexts. In the Sultanate of Oman, where high rates of consanguinity contribute to a disproportionately elevated burden of genetic and congenital disorders, the need for a locally trained workforce is particularly urgent. This descriptive professional issue report critically reflects on a transnational training model developed through a partnership among Sultan Qaboos University Hospital (SQUH), Sultan Qaboos Comprehensive Cancer Care and Research Center (SQCCCRC) in the Sultanate of Oman, and the University of Cape Town (UCT) in South Africa to address these structural gaps. The model, conceptualized as a "Split-Funnel Model," integrates international academic training with sustained, supervised in-country clinical practice. Trainees completed intensive academic blocks and clinical training at UCT while delivering clinical care in Oman, an arrangement intended to support the development of clinical expertise and culturally grounded practice. A central feature of this model is "system code-switching," defined as the adaptation of Western-derived counseling frameworks to culturally responsive, collectivist, and family-centered healthcare contexts. During the model's operation, Oman's genetic counseling workforce and service capacity expanded from a single non-Omani-led clinic to three national centers staffed by five qualified Omani genetic counselors; however, the descriptive design does not establish that the training model caused this growth. This experience suggests that a distributed transnational approach may be feasible and potentially valuable for developing a culturally competent genetic counseling workforce without established local academic infrastructure. Even though the report is based on retrospective programmatic observations of five trainees within one partnership, it does not establish the model's effectiveness, scalability, or transferability. However, the model may still offer practical guidance for countries seeking to build a locally embedded genetic counseling workforce before establishing an independent domestic training program.
The UK genetic counselor profession has evolved to be adaptive to meet developing education and training needs in response to scientific and clinical genomics advancements. Training has moved from a 2-year master of science (MSc) program in 1992 to two 3-year training programs currently. One MSc is delivered in a hybrid model incorporating a clinical placement. The other, the Scientific Training Programme (STP), integrates an academic MSc with work-based training within a Genomics Medicine Service in England. Both enable a pathway to professional registration either via the Academy of Healthcare Science (AHCS) registration, supported by the Genetic Counsellor Registration Advisory Board (GCRAB), or the Health and Care Professionals Council (HCPC). Evolution of education and training in the United Kingdom is being driven by multiple factors, including technological advancement, changes in the genetic counselor profession, government and health policy priorities, evolution of professional regulation, workforce demands and training capacity, and learners' preferences. The profession has responded to these drivers by ensuring training programs' curricula remain up to date and flexible for rapid changes; they consider the introduction of new training routes, such as apprenticeships, and implementing new delivery methods to support consistent training via the online Genomic Training Academy (GTAC) learning platform. This reflective perspective on the evolution of genetic counselor training and education is written by key stakeholders from the Association of Genetic Nurses and Counsellors' education and training sub-group (GCET), whose role is to horizon scan for potential developments that will impact the profession to ensure a rapid response to future changes.
ABSTRACT Genetic testing is integral to diagnosing rare diseases, yet it frequently yields Variants of Uncertain Significance (VUS), leaving families without definitive diagnoses. The psychosocial impact of this diagnostic ambiguity remains understudied, particularly in non‐Western populations. We conducted a qualitative study using semi‐structured interviews with the parents of 21 children with undiagnosed diseases who underwent genetic testing and received VUS results at two tertiary centers in Türkiye. Interviews were conducted in Turkish, transcribed, and translated into English. We analyzed the corpus using Reflexive Thematic Analysis, situated within a contextualist paradigm and informed by descriptive phenomenology. Our analysis revealed an exhausting medical journey in which genetic testing is approached hopefully as a critical turning point, but where prolonged waiting and eventual uncertainty often exacerbate feelings of isolation and emotional overwhelm. We identified a thematic structure comprising three domains. The first, Turning Point, addresses genetic testing in the context of families' diagnostic journey and the cognitive and emotional experience of seeking a diagnosis. The second, Support Ecosystem, centers on those whom families rely upon as they navigate genetic testing. The third, Navigating into a Liminal Future, addresses families' attitudes toward an uncertain future shaped by the genetic testing journey. Building on this thematic structure, we propose the Chronic Diagnostic Liminality (CDL) framework, integrating uncertainty‐in‐illness, chronic liminality, and ambiguous‐loss theory, as an exploratory account of how families come to adapt to, rather than resolve, enduring diagnostic ambiguity. Receiving a VUS result is a complex psychosocial stressor that further burdens families of a chronically ill child without a clear diagnosis. Genetics clinics could integrate these findings to help families bolster their inner sources of strength, manage expectations, and face diagnostic ambiguity with better support.
ABSTRACT Approximately 10% of individuals have a rare disease, many of which are genetic. These patients often see primary care physicians (PCPs) and could be referred for genetic assessment. Literature describes barriers to discussing genetics in primary‐care, including PCP knowledge gaps. Genetic counselors (GCs) may address those gaps. To understand the proportion of patients with a potential monogenic condition in Mayo Clinic Florida Family Medicine, a GC reviewed the electronic medical record (EMR) and placed a prompt noting an “indicator,” for possible genetics referrals on PCP schedules. Post‐visit documentation was reviewed for PCP response. Descriptive statistics and Mann–Whitney U tests were performed. Thirteen PCPs participated, with 262 patients reviewed over 10 months. Eighty patients (30.5%) had an indicator, most commonly for a personal or family history of cancer (73.8%). Sixty‐six (82.5%) patients with an indicator had a subsequent PCP visit and 42 (63.6%) lacked documentation acknowledging the indicator. Of the remaining 24 (36.4%), 11 (45.8%) were referred to genetics and 7 (29.2%) declined further evaluation. Overall, 4.2% (11) of the reviewed population had a genetics referral, which represents 16.7% of patients with an indicator who saw their PCP. The GC spent more time reviewing charts with indicators than charts without indicators (median [IQR], 10 [6–10] vs. 5 [4–8] minutes; Mann–Whitney U = 3859.5; p < 0.001). This study revealed patients who could benefit from genetic evaluation present in primary‐care, but even with GC assistance to identify these patients via EMR review, many times PCPs do not document the potential genetic concern. A passive GC role may be insufficient, as fewer than half of indicators were acknowledged and only 16.7% resulted in referral. More active strategies, such as GC counseling within the primary‐care clinic, and interventions addressing educational, structural, or time‐based barriers, should be explored.
