Genetic testing and counselling are invaluable tools for preventative and personalised care. Unfortunately, utilisation of these services in South Africa, and continental Africa more broadly, has been limited. South Africa, which suffers from a unique epidemiological state, offers these genetic services, but accessibility is limited, as is education around this topic. Furthermore, coupled with the previous limitations, there is a prevalent distrust of the healthcare system and the stakeholders involved therein. This is largely due to the sociopolitical history of the country, which has resulted in severe economic inequalities and racial marginalisation of majority population groups. To effectively reduce the disease burden that South Africa is currently experiencing, it is necessary to increase the accessibility and uptake of these services, particularly genetic testing. While geographic and financial barriers could be tackled governmentally, other barriers, such as stigma towards genetic testing, Westernised medicine in general, and those that provide it, need to be investigated before investing valuable resources into infrastructure. Understanding these barriers would provide critical insight into the demand for genetic testing and how uptake and motivation could be improved. This narrative review discusses potential barriers to uptake and consumer demand in South Africa, and concludes by tying all identified barriers into an overarching concern regarding stigma (particularly intersectional stigma) related to genetic testing in a South African context. By doing so, we identify several key information gaps that future research could fill.

Assessing family history is an important part of routine family practice. The primary aim of this study was to determine whether patients can complete a take home questionnaire provided by their family physician. 564 eligible patients attached to a family practice in British Columbia were invited to participate in the study. The average age of invitees was 55.59 years old. Among them, 277 were male (49.1%) and 287 were female (50.8%). 89 participants returned a family history questionnaire, 15.78% response rate. The average age of participants was 65.8 and ranged from 22 to 92 years old. 32 participants were male (35.9%) and 57 were female (64.0%). Family history pedigrees were obtained from the questionnaires. Family history and pedigrees inform health care decisions as part of routine care and risk assessment in a family practice setting. Assessing family history in the workflow of a family physician's office will be important to integration of genetics and family medicine in the future. Our study demonstrates the feasibility of family history assessment in family practice.

Autonomy and informed decision making are important aspects for prenatal genetic screening and diagnostics. Midwives’ knowledge and skills are essential to provide adequate information about prenatal testing to expecting parents to enable informed decisions. Information from midwives to parents about prenatal genetic testing has been found to not always be adequate, and parents’ needs not always understood.​ As new methods are introduced, the scope of analysis is widening. In order to achieve informed decision-making, it is important to understand the questions and expectations midwives meet from expecting parents. This study explores the questions and expectations midwives meet from expecting parents regarding prenatal genetic testing, and how uncertainties are perceived and valued. A questionnaire was distributed through a midwife with a national coordinating role, to all midwives in primary maternity care and to the 8 ultrasonography clinics in the Stockholm region, as well as to midwives across Sweden via regional coordination midwives. The responding midwives (N = 71) represented different health care regions in Sweden, working both in primary maternity healthcare and as ultrasonography specialists. Midwives were found to perceive an increased number of questions about noninvasive prenatal testing (NIPT) but a proportion of midwives are not completely confident to answer these questions. Midwives get questions about trisomy 21, other trisomies and sex chromosome abnormalities, but also neuropsychiatric conditions. Methods for invasive, diagnostic testing do not seem to be discussed when accepting offer of initial screening. ​ Midwives are aware of uncertain and secondary findings, but fewer have discussed this with parents. Continuing education and support for midwives is essential – and should put additional focus on developing understanding around established methods like NIPT, but also on more comprehensive genomic test methods such as microarray and massive parallel sequencing techniques as well as challenges around discussing conditions tested for and test results, including uncertain results and secondary findings, with expecting parents.Supplementary informationThe online version contains supplementary material available at 10.1007/s12687-025-00846-8.

Newborn screening (NBS) is a public health initiative (PHI) that identifies newborns with critical health conditions or deafness, allowing for intervention or life-saving treatments. Information regarding NBS education following homebirths is limited. We sought to understand homebirth parents' NBS experiences. Interview participants were recruited from Facebook through a screening questionnaire. An interpretivist paradigm was employed through narrative analysis, deriving themes from the life-experiences of homebirth clients about provision/abnegation from NBS. Five domains were identified after reading transcripts and appreciating common interviewee experiences. Subsequently, interviews were inductively double coded to highlight subthemes classified into each narrative domain. The narrative domains are: Birth Setting, Birth Plan, NBS, Misconceptions, and Education. Birth Setting highlights themes impacting both hospital and homebirth settings. Decisions about subsequent birth setting were influenced frequently by themes classified within narrative domains of Birth Plan and NBS. Finally, client stories highlight a reported desire for greater Education. This need is also apparent due to the presence of Misconceptions regarding NBS. All five narrative domains are interdependent with aspects of each impacting client perceptions and actions within other domains. Misconceptions breed mistrust; fostering greater psychological safety through comprehensive consent discussions- exploring client goals and understanding -may increase trust in PHIs. Consent should focus on the purpose and abilities of NBS; thus, reducing risk perception and enhancing understanding of its benefits in both homebirth and hospital settings. Paired written and oral communication, multidisciplinary care leveraging genetic counselors, and focused continuing medical education for midwives and prenatal providers may further improve NBS.

Confirming a genetic diagnosis of cystic fibrosis (CF) for clinically affected individuals should be more accessible today, with more laboratories offering testing and improved technologies at lower costs. Instead, diagnostic testing for CF has become more complex due to the variety of genetic testing options available for the one known causative gene (CFTR). This article provides an overview of genetic tests currently available for CF in six laboratories in South Africa. Also, it demonstrates the evolution of CF tests used at one private laboratory in the country via a ten-year retrospective study. The findings of this study may serve as a guide for healthcare providers in selecting appropriate testing for CF diagnostic or carrier genetic confirmation. The choice of genetic test and methodology depends on individualised factors such as the ethnic origin of the patient, test availability, advantages and limitations, and cost. The ethnic diversity of South Africa’s populations and probable under-reporting of CF in the country make the diagnosis of this relatively common genetic condition complex. The actual burden of CF in South Africa is unknown, and comprehensive genetic testing, with an ongoing compilation of patient data in the South African CF registry, should assist in addressing the genetic diversity of CF-causing variants.Supplementary InformationThe online version contains supplementary material available at 10.1007/s12687-025-00810-6.

Genomic medicine is becoming essential to clinical everyday practice in many medical fields. At the same time ethical, economic and practical challenges impede the mainstreaming of genomic medicine. Previous studies indicate that physicians without specific qualifications in genetic medicine may lack sufficient knowledge and/or confidence to efficiently practise genomic medicine. This study used a previously validated survey to investigate Swedish non-genetics physicians’ (n = 133) self-assessed knowledge, education needs and preferred mode of working with genomic medicine. Self-assessed knowledge varied widely between knowledge areas, with about 70% having knowledge in basic concepts and disorders/diseases, to about 35% having knowledge about cascade testing or legal implications. A majority reported that having more knowledge within the field of genomic medicine would change their clinical practice. Only 3% of participants preferred to manage genomic medicine patients fully on their own, while 56% preferred to manage such patients in their own practise but with support from regional genetics services or competence in-house. In contrast, 29% preferred to refer patients directly to regional genetics services. A majority desired more or better access to information material aimed at physicians and/or patients. Answering patterns generally corroborate previous findings from other countries. In summary, Swedish non-genetic physicians report sub-optimal levels of knowledge and desire much support in genomic medicine matters. The results have important implications for the interaction between regional genetics services and non-genetics physicians, as well as for the continuous education necessary to further the mainstreaming of genomic medicine.

This article provides a concise overview of the clinical research landscape concerning Rare Diseases in Brazil. Rare Diseases, affecting a small portion of the population, present a substantial public health concern. Estimates suggest that between 7 to 12 million Brazilians may be affected by these conditions. Despite incomplete epidemiological data on Rare Diseases in Brazil, collaborative efforts among various institutions are underway to address this gap. The Brazilian Policy of Comprehensive Care for People with Rare Diseases was launched in 2014 aiming to enhance diagnosis and follow-up care, thereby facilitating recruitment for clinical trials. The approval process for clinical studies in Brazil involves rigorous ethical evaluation by CEPs-Comitês de Ética em Pesquisa (Research Ethics Committees) and CONEP-Comissão Nacional de Ética em Pesquisa (National Commission on Ethics in Research), along with regulatory assessment by Anvisa-Agência Nacional de Vigilância Sanitária (the Brazilian Health Regulatory Agency). While timelines for approval can be lengthy, recent regulatory changes are streamlining the process. Despite challenges, conducting clinical research on Rare Diseases in Brazil offers unique opportunities for large, inclusive and diverse patient populations. The evolving regulatory landscape and collaborative initiatives hold promise for accelerating clinical trial participation and advancing therapeutic options for Rare Diseases, consequently improving patient outcomes and quality of life.