Genetic Research Results Research Articles

Facilitating return of actionable genetic research results from a biobank repository: Participant uptake and utilization of digital interventions

Research participants report interest in receiving genetic research results. How best to return results remains unclear. In this randomized pilot study, we sought to assess the feasibility of returning actionable research results through a two-step process including a patient-centered digital intervention as compared to a genetic counselor (GC) in the Penn Medicine biobank. In Step 1, participants with an actionable result and procedural controls (no actionable result) were invited to digital pre-disclosure education and provided options for opting out of results. In Step 2, those with actionable results who had not opted out were randomized to receive results via a digital disclosure intervention or with a GC. Five participants (2%) opted out of results after Step 1. After both steps, 52/113 (46.0%) of eligible cases received results, 5 (4.4%) actively declined results, 34 (30.1%) passively declined and 22 (19.5%) could not be reached. Receiving results was associated with younger age (p<0.001), completing pre-disclosure education (p<0.001) and being in the GC arm (p=0.06). Being older, female, and of Black race were associated with being unable to reach. Older age and Black race were associated with passively declining. 47% of those who received results did not have personal or family history to suggest the mutation, and 55.1% completed clinical confirmation testing. The use of digital tools may be acceptable to participants and could reduce costs of returning results. Low uptake, disparities in uptake, and barriers to confirmation testing will be important to address to realize the benefit of returning actionable research results.

Potential of Black Rice Mutants (M4) Through Genetic Parameters to Develop Superior Drought-Resistant Varieties

Rice plays an important role in meeting carbohydrate requirement and calorie needs to ensure food security. However, in recent years, rice productivity has decreased due to land conversion and climate change such as El Niño. The productivity of drought-resistant rice can be increased through breeding. Genetic diversity and heritability are important genetic parameters in the plant breeding process. Information about genetic diversity and heritability helps determine genetic progress through selection. This research aims to examine the potential genetic diversity and heritability of several mutant lines (M4) of black rice (G10) in order to develop superior rice varieties that are adaptive to dry land. In this research, we used experimental methods using a Randomized Block Design (RBD), calculating the value of the Genetic Diversity Coefficient (GDC) and heritability between quantitative characters. The results of narrow genetic research were found in the characteristics of the number of productive tillers and weight of 100 grains, while high heritability was found in the characters of plant height, moderate heritability was found in the total number of tillers, panicle length, number of empty grains per panicle, and weight of 100 grains. Overall, this research succeeded in identifying mutant lines (M4) of black rice (G10) which have the potential to be developed into superior varieties, especially for cultivation in dry land.

Parental perspectives regarding the return of genomic research results in neurodevelopmental disorders in South Africa: anticipated impact and preferences.

Few policies and little research exist regarding the disclosure of genomic results to research participants in Africa. As understanding participant preferences would be pivotal to the success of the feedback process, this study set out to address this issue by engaging with enrolled participants from an ongoing genomics research project on neurodevelopmental disorders with the aim to assess the anticipated impact of receiving pertinent results and explore the preferences for feedback in a South African context. Twelve semi-structured interviews were conducted with 17 parents of children participating in the research study. Transcribed interview data and observational notes were analysed using thematic analysis and framework matrices. Participants linked their own meaning to the impact of receiving a pertinent result and perceived the information as useful for reasons other than only clinical utility. These included closure, improved management of their child's condition and information regarding recurrence risks. In terms of preferences for feedback, an in-person result delivery session, conducted by a member of the study team or medical professional familiar with their child was preferred. In addition, participants felt a sense of ownership over their blood or their contribution to the research study, finding meaning even in non-pertinent results. These findings provide insight into the type of discussions that may be valuable in enabling the development of best practices and guidelines for the return of individual genetic research results, in a culturally appropriate manner, within South African communities.

Investigating unexplored cyanobacterium Desmonostoc salinum sp. in mangroves as a novel antioxidant source

Antioxidants are essential in the fight against free radicals which are linked to a number of diseases in humans. Synthetic antioxidants are stable and economical, but they come with health hazards. Mangrove cyanobacteria are being studied for their antioxidant properties in an effort to find natural substitutes. Desmonostoc salinum is isolated from industrial and mangrove sites in the study and antioxidant activity is evaluated. When compared to their industrial counterparts, mangrove isolates show better antioxidant qualities including a greater phenolic content and DPPH radical scavenging activity. Mangrove isolates' ethanolic extracts exhibit 1.42 times greater antioxidant activity than industrial extracts along with a 2.31-fold rise in DPPH scavenging activity. These results highlight the importance of cyanobacteria as a source of antioxidants for the food and pharmaceutical industries. The results of genetic research identify both isolates as Desmonostoc sp., indicating that the different antioxidant levels may be a result of their adaptability to different environments. This study highlights the potential of cyanobacteria as readily extracted, naturally occurring antioxidants that have significant opportunities for both industry and health.

Genetic prion disease – fatal familial insomnia (clinical case)

Background. Fatal familial insomnia is a rare genetically determined neurodegenerative disorder from the group of prion diseases. Its main cause is the autosomal dominant D178N mutation of the PRNP gene, which leads to the synthesis of the pathological prion protein PrP.The aim. Using the example of a clinical case to describe an example of the early onset of fatal familial insomnia in a teenager, a clinical example of its management.Materials and methods. Female patient V., 16 years old, of hyposthenic constitution, undernourished, with negative family history (multiple sclerosis in her paternal grandmother) for the first time consulted a neurologist in Tver for the complaints of superficial sleep, shortened to 4–5 hours, unspecific pain all over the body, periodic numbness in the upper limbs. Six months later, retardation of speech and movements, changes in gait, and intentional tremor occurred; sleep was shortened to 2 hours. In the future, the teenager lost the ability to independently maintain the vertical body position, the ability to walk without assistance, speech was reduced to syllable answers to questions. In order to verify the diagnosis and to carry out differential diagnosis with other neurodegenerative diseases, the girl underwent auxiliary research methods: detection of antibodies to nuclear antigens, magnetic resonance imaging, computer electroencephalography, polyexomal genome sequencing.Results. Based on the anamnesis, complaints, clinical picture and results of genetic research the final diagnosis of fatal familial insomnia was made. Due to the lack of etiological and pathogenetic therapy, the patient was subsequently provided with palliative medical care. The fatal outcome occurred 19 months after the onset of the disease.Conclusions. The presented clinical case reflects the complexity of managing patients with rare genetic diseases, confirms the need for mandatory polyexomal genome sequencing in order to verify the diagnosis, which allows timely palliative care

Parental Perspectives Regarding the Return of Genomic Research Results in Neurodevelopmental Disorders in South Africa: Anticipated Impact and Preferences.

Few policies and little research exist regarding the disclosure of genomic results to research participants in Africa. As understanding participant preferences would be pivotal to the success of the feedback process, this study set out to address this issue by engaging with enrolled participants from an ongoing genomics research project on neurodevelopmental disorders with the aim to assess the anticipated impact of receiving pertinent results and explore the preferences for feedback in a South-African context. Twelve semi-structured interviews were conducted with 17 parents of children participating in the research study. Transcribed interview data and observational notes were analysed using thematic analysis and framework matrices. Participants linked their own meaning to the impact of receiving a pertinent result and perceived the information as useful for reasons other than only clinical utility. These included closure, improved management of their child's condition and information regarding recurrence risks. In terms of preferences for feedback, an in-person result delivery session, conducted by a member of the study team or medical professional familiar with their child was preferred. In addition, participants felt a sense of ownership over their blood or their contribution to the research study, finding meaning even in non-pertinent (secondary findings) or negative results. These findings provide insight into the type of discussions that may be valuable in enabling the development of best practices and guidelines for the return of individual genetic research results, in a culturally appropriate manner, within South-African communities.

Perspectives of researchers, science policy makers and research ethics committee members on the feedback of individual genetic research findings in African genomics research

BackgroundGenetic research can yield information that is unrelated to the study’s objectives but may be of clinical or personal interest to study participants. There is an emerging but controversial responsibility to return some genetic research results, however there is little evidence available about the views of genomic researchers and others on the African continent.MethodsWe conducted a continental survey to solicit perspectives of researchers, science policy makers and research ethics committee members on the feedback of individual genetic research findings in African genomics research.ResultsA total of 110 persons participated in the survey with 51 complete and 59 incomplete surveys received. Data was summarised using descriptive analysis. Overall, our respondents believed that individual genetic research results that are clinically actionable should be returned to study participants apparently because participants have a right to know things about their health, and it might also be a means for research participation to be recognized. Nonetheless, there is a need for development of precise guidance on how to return individual genetic research findings in African genomics research.DiscussionParticipants should receive information that could promote a healthier lifestyle; only clinically actionable findings should be returned, and participants should receive all important information that is directly relevant to their health. Nevertheless, detailed guidelines should inform what ought to be returned. H3Africa guidelines stipulate that it is generally considered good practice for researchers to feedback general study results, but there is no consensus about whether individual genomic study results should also be fed back. The decision on what individual results to feedback, if any, is very challenging and the specific context is important to make an appropriate determination.

Home and Spread of Indo-European Tribes in the Light of Name Research

Today, large parts of Europe are populated by speakers of Indo-European languages. People have long wondered where they came from, where their original home was. Archeology has long been trusted to provide a solution to the problem. This has now been abandoned. Today there is a great deal of trust in the results of genetic research, which can certainly contribute to important findings. However, one should not forget an important aspect: when one looks for the speakers of Indo-European languages, one is not looking for specific material finds (devices, weapons, etc.) or for the carriers of certain genetic peculiarities, but for the speakers of languages. Their homeland and distribution can only be determined using linguistic methods. The languages alone are crucial. And at this point a scientific discipline that is based on languages comes into view: it is place name research. Place and river names are firmly anchored in the original region. They often pass on their names to changing populations and are therefore undoubtedly the most important witnesses to the history of peoples and languages. And another scientific discipline must be included: agricultural science, because early settlements were based on good and productive soils that enabled continuous settlement. With the help of geographical names and the distribution of Europe&amp;apos;s good soils, the study determines the original settlements of the Slavs on the northern slope of the Carpathians, the Germanic tribes north of the Harz and those of the Celts on the western edge of the Carpathians. River names that can be assigned to Old European, i.e. Indo-European, hydronymy also show that old ones come from almost all settlement areas. There is evidence of connections to the Baltics and the Baltic languages. The Baltics are therefore the center of Indo-European names and there is no reason not to consider them as the starting area and home of Indo-European expansions. A homeland outside of Old European hydronymy, be it in southern Russia or in Asia Minor or in the Caucasus, as is often assumed today, especially on the basis of genetic studies, is excluded.

Genetic analysis of multiple burials from the medieval churchyard from the St. Peters church of old Cölln/Berlin

This article presents the genetic research results of selected multiple burials from one of the oldest medieval cemeteries in Berlin. Extensive excavations since 2007 have uncovered 3,121 graves containing 3,778 individuals at the former St. Peters churchyard in the city centre of the German capital Berlin. The use of the area as a cemetery started around 1150 and ended in 1717. The parish belonged to the medieval city of Cölln one of the two founding cores of Berlin. Among the found graves was a noticeably high amount (12%) of multiple burials. Eight selected grave complexes, which contained in total 17 individuals, were chosen that indicated some kind of relationship based on the arrangement of the bodies. Our main focus was to investigate the role of biological kinship in these medieval burial customs. Additionally we provide data about the genetic ancestry of all individuals as well as phenotyping predictions.

Speech disorders in genetically determined forms of epilepsy in children. Clinical observations

BACKGROUND: Speech disorders in children are one of the pressing problems of child neurology. In recent years, much attention has been paid to studying the genetic aspects of the development of speech disorders in children with epilepsy. Speech function in childhood is vulnerable, and its violation has a number of significant consequences. Specialists from different disciplines focus on specific aspects of speech disorders. Speech therapists consider speech disorders based on linguistic criteria, psychologists evaluate the psychological characteristics of children with speech disorders. The rapid development of genetic research, the availability of many molecular genetic tests, especially such a method as next generation sequencing, allowed us to pay more attention to the study of genetic aspects of the development of speech disorders in children with epilepsy.&#x0D; AIM: to present options for speech disorders in genetically determined forms of epilepsy in children based on clinical examples.&#x0D; RESULTS: The article analyzes 3 clinical cases of epilepsy in children, combined with speech pathology (2 boys and 1 girl aged 2 to 5 years). The data of anamnesis of life and disease, neurological examination with assessment of speech function, results of genetic research, electroencephalographic examination and magnetic resonance imaging are presented.&#x0D; CONCLUSION: All patients are united by a combination of speech disorders, epileptic seizures, and the presence of genetic pathologies that are responsible for speech function. These clinical observations demonstrate the need for a comprehensive, multidisciplinary approach both at the stage of early diagnosis of speech impairment in children with epileptic seizures and at the stage of further treatment of such patients.

What are Jews: interrogating genetic studies and the reification of race.

Scientific studies on the genetic proximity of Jews undertake to shed light on "who or what Jews really are". However, various scientists and scholars have warned that such studies reify racial thinking. This essay delineates and contextualizes the debate held between various geneticists and social scientists on the danger of reification within the Jewish context. This is mainly a debate about the impact of (traditional, religious, and Zionist) narratives on scientific research as well as on the ethical responsibility of scientists. The paper claims that such genetic studies test Jewish religious narratives against genetic research results and do not necessarily enforce old notions of distinctiveness.

Uptake of Genetic Research Results and Patient-Reported Outcomes With Return of Results Incorporating Web-Based Predisclosure Education.

We developed a web-based education intervention as an alternative to predisclosure education with a genetic counselor (GC) to reduce participant burden and provider costs with return of genetic research results. Women at three sites who participated in 11 gene discovery research studies were contacted to consider receiving cancer genetic research results. Participants could complete predisclosure education through web education or with a GC. Outcomes included uptake of research results, factors associated with uptake, and patient-reported outcomes. Of 819 participants, 178 actively (21.7%) and 167 passively (20.4%) declined return of results; 474 (57.9%) were enrolled. Most (60.3%) received results although this was lower than the 70% uptake we hypothesized. Passive and active decliners were more likely to be Black, to have less education, and to have not received phone follow-up after the invitation letter. Most participants selected web education (88.5%) as an alternative to speaking with a GC, but some did not complete or receive results. Knowledge increased significantly from baseline to other time points with no significant differences between those who received web versus GC education. There were no significant increases in distress between web and GC education. Interest in web-based predisclosure education for return of genetic research results was high although it did not increase uptake of results. We found no negative patient-reported outcomes with web education, suggesting that it is a viable alternative delivery model for reducing burdens and costs of returning genetic research results. Attention to attrition and lower uptake of results among Black participants and those with less formal education are important areas for future research.

Migratory, Genetic and Phenetic Response Potential of Forest Tree Populations Facing Climate Change

Forest trees are especially vulnerable to climatic oscillations due to their long lifespan. Out of the possible mechanisms of acclimation and adaptation, natural selection and migration will play a subordinate role because of the relatively high speed of expected changes. Phenotypic plasticity retains on the other hand primary importance. Analysis of common garden experiments and of health monitoring data indicate that response across the distribution area will be differentiated. The lowlatitude, low elevation periphery is especially threatened, while growth in the northern part of ranges will accelerate (in case moisture conditions will remain favourable). Comparing the velocity of predicted changes and the constraints of the buffering mechanisms of species for adaptation, it is obvious that human interference will be essential for the maintenance of ecosystem stability. Forest genetic and ecology research results have to be synthesised to better elucidate the requirements of stability and response of forest ecosystems under predicted climatic conditions.

Predicting the tolerability of inhalation therapy as a stage of a personalized approach in the treatment of children with cystic fibrosis

Background. Considering the features of basic therapy for chronic inflammatory bronchopulmonary process in cystic fibrosis (CF), which includes almost daily inhalation of pharmacological drugs (mucolytics, hypertonic saline (HS), antibiotics), evaluation of their tolerability is relevant in practice. The purpose of the study is to create a prognostic scale convenient for use in practical medicine, which would predict development of bronchial hyperreactivity syndrome in children with CF, based on clinical and anamnestic data, the results of molecular genetic research and inhalation tests with increasing concentrations of HS to prescribe personalized treatment. Materials and methods. The results of clinical and anamnestic, microbiological, biochemical, molecular and genetic studies and inhalation tests with increasing concentrations of HS were analyzed in 40 children with CF. The creation of the predictive algorithm was based on the application of correlation analysis, receiver operating characteristic analysis, binary logistic regression, Wald and Kullback method. Results. Two prognostic models have been created that can be used at different stages of providing medical care. Model 1 was built for the ambulatory stage of providing medical care to patients with CF, considering clinical and anamnestic data, molecular genetic predictors, as well as clinical symptoms during inhalation tests with increasing concentrations of HS. This model also can be used in young children who cannot perform spirometry to assess their external breathing function. For the highly specialized medical care, model 2 was created, which considers indicators of spirometric data of inhalation tests with increasing concentrations of HS and the level of exhaled nitric oxide. Conclusions. The developed models make it possible to calculate with high probability the risk of developing bronchial hyperreactivity to perform a personalized selection of HS and choose preventive brocholytic therapy as needed.

First results of maintenance of register in electronic form in pediatric patients with hypertrophic cardiomyopathy

Background. The problem of managing children with hypertrophic cardiomyopathy (HCM) remains relevant due to the high risk of sudden cardiac death (SCD). Registers of patients with HCM contribute to a better understanding of the course of the disease and its outcomes.Objective. To study the structure of CMP with a hypertrophic phenotype, as well as to identify clinical, molecular and genetic features of the course of HCM and outcome in children based on anamnestic, clinical and instrumental data from an electronic database.Design and method/ Currently, the database includes complete information on 80 children from 0 to 18 years of age inclusive with a hypertrophic phenotype of CMP. The study was performed on the basis of the Department of Pediatric Cardiology and Medical Rehabilitation of the V.A. Almazov” of the Ministry of Health of Russia. The database contains the history of the disease and family history, the results of clinical and laboratory-instrumental examination, the results of molecular genetic research. The register is dynamically updated.Results. The mean age of onset of HCM was 1.75 [0.02; 10.00] years. There were more boys than girls — 54 (67.5 %). The main complaints were decreased exercise tolerance in 35 (43.8 %) children and shortness of breath in 30 (37.5%) children. All children had signs of heart failure (HF): 53 (66.3 %) had signs of functional class 2 HF, 26 (32.5 %) — functional class 1 and 1 (1.2 %) — functional class 3. Ventricular arrhythmias were recorded in 23 (29 %) children, unstable ventricular tachycardia in 2 (2.5 %) children. Myocardial fibrosis of the left ventricle according to the results of MRI of the heart was found in 60.7 %. A lethal outcome was registered in 5 % (n = 4) of cases on average at 241 ± 117 days of life. All the deceased had phenocopies of HCM.Conclusion. Maintaining an electronic database of patients with HCM will allow a better understanding of the influence of factors, including genetic ones, on the course, outcomes, and prognosis of the disease in the pediatric population.

Patent Regulation in the Field of Genome: Trends, Problems, Prospects

The paper examines the situation that has developed in recent years in the field of patenting the results of genomic and genetic research and manipulation, the main trends and possible ways of developing relations and regulation in this area. This includes the role of Russia and the BRICS countries in the future world order, where genetic and genomic technologies and the fruits of their application will (and partly are already) one of the most important values. The author analyzes the existing and possible forms of securing rights to these values for copyright holders, and accounts the difference between genetics and genomics (and the gradual erosion of this difference with the appearance of «designer genes»). The author concludes that now there is no sufficiently developed, reasonable and workable alternative to the existing system of protection of the rights to the achievements of genetics and genomics while maintaining the expediency of searching for such an alternative. The existing system provides unreasonably many advantages to individual corporations and states that have managed to secure the largest possible amount of rights to the achievements of genetics and genomics. The paper analyzes some international acts designed to ensure a fair distribution of benefits between the owners of advanced technologies and the «suppliers» of the original genetic material. These have so far been undeservedly ignored in our country, but are gaining new significance in the course of the ongoing «genomic revolution» based on the mass application of the CRISPR-Cas genomic editing method. Possible directions for coordinated actions of the BRICS countries on patent cooperation in relation to the results of genomic and genetic research and manipulation are proposed. As one of the conclusions, it is indicated that the use of BRICS as a platform for building a better future for all mankind, and not only for patent holders, fully corresponds to the role and prospects of BRICS in the modern international system, stated in the Concept of the Participation of the Russian Federation in the BRICS association.

Prospects for biobanking in reproductive health: genetic aspects

Currently, one of the most promising areas of medicine is the development and implementation of new biomedical technologies in the field of human reproduction with the involvement of resources of biobanks and biocollections as well as modern genetic technologies. In this review, we considered the key dimensions of personalized medicine, such as biobanking and genomic medicine. We illustrated crucial aspects in the organization of human bioresource collections and the difficulties arising in the interaction of specialists in the field of biobanking. Problems in obtaining informed consent and collecting personal data are described. Furthermore, the need for creating and developing complex information systems for storing, processing, and analyzing data, creating genetic databases is emphasized. Foreign experience in consolidation of biobank data and the results of genomic studies is summarized. We also describe D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology’s experience in creating collections of human biomaterials (today it contains more than 60,000 samples, including samples of blood and its derivatives (plasma, serum, whole blood), urine samples, placental tissue, cell cultures, DNA, RNA, and others) and in quality management. The main results of genetic research are provided. Experience in these studies served as the basis for the creation of Biobank “Genofond” and the unique scientific facility “Human Reproductive Health”. The principle of creation of the collection, its purpose, and objectives for future research in the genetics of reproduction are described.

Pedigree analysis of the Lipizzan horse populations from Bosnia and Herzegovina and Serbia: Structure, inbreeding and genetic variability

The aim of this study was to evaluate population parameters and to describe the genetic variability in the Lipizzan horse populations from stud farms in Bosnia and Herzegovina (BH) and Serbia (SRB), reported for the first time in the literature. Pedigree data were collected from the national studbooks. Pedigree data for 2 521 horses were used in the analysis, for a reference population covering live animals in the current population. The average generation interval was 10.78 ± 0.36 (BH) and 12.12 ± 0.59 (SRB) years. The equivalent complete generations ranged from 5.49 (BH) to 14.86 (SRB). The average inbreeding values were 3.96 (BH) and 2.12 (SRB), whereas the average relatedness values were 9.24 (BH) and 4.13 (SRB). Values for f&lt;sub&gt;e&lt;/sub&gt;, f&lt;sub&gt;a&lt;/sub&gt;, f&lt;sub&gt;g&lt;/sub&gt;&lt;sub&gt; &lt;/sub&gt;and the f&lt;sub&gt;e&lt;/sub&gt;/f&lt;sub&gt;a&lt;/sub&gt;&lt;sub&gt; &lt;/sub&gt;ratio were 21, 12, 6.031 and 1.75 in BH Lipizzan horses, and 79, 20, 9.766 and 3.95 in SRB Lipizzan horses. The number of ancestors explaining 50% of genetic diversity in the BH and SRB reference populations was five and eight, respectively. The effective population sizes obtained from regression on the birth dates were 43.67 (BH) and 211.78 (SRB). The investigated genetic variability parameters were higher in the SRB Lipizzan population than in the BH population. The results of pedigree and genetic structure research indicate the need for a comprehensive approach to monitoring to improve future breeding and genetic diversity in the BH and SRB Lipizzan populations.

Мarker-assisted selection of ukrainian local chicken breeds. overview of research results

The article presents a complex system of using of different types of molecular genetic markers in marker-assisted selection of Ukrainian local chicken breeds of egg and combined productivity. The main stages of selection work with different chicken breeds of Ukrainian selection are given considering the results of genetic variability research and analysis of productivity parameters of chicken with different genotypes by a number of DNA-markers. According to the results of the research, prospective marker systems identified by the set of quantitative trait loci, allelic variants of which are associated with productivity indicators. The formulas of perspective genotypes according to the complex of quantitative trait loci for chickens of Birkivska Barvista line A, Poltava clay line 14 and Rhode Island Red line 38 are given. For chicken breeds of combined productivity, the formulas of the desired genotypes formed on the egg or meat direction.

Whole Exome Sequencing in South Africa: Stakeholder Views on Return of Individual Research Results and Incidental Findings.

The use of whole exome sequencing (WES) in medical research is increasing in South Africa (SA), raising important questions about whether and which individual genetic research results, particularly incidental findings, should be returned to patients. Whilst some commentaries and opinions related to the topic have been published in SA, there is no qualitative data on the views of professional stakeholders on this topic. Seventeen participants including clinicians, genomics researchers, and genetic counsellors (GCs) were recruited from the Western Cape in SA. Semi-structured interviews were conducted, and the transcripts analysed using the framework approach for data analysis. Current roadblocks for the clinical adoption of WES in SA include a lack of standardised guidelines; complexities relating to variant interpretation due to lack of functional studies and underrepresentation of people of African ancestry in the reference genome, population and variant databases; lack of resources and skilled personnel for variant confirmation and follow-up. Suggestions to overcome these barriers include obtaining funding and buy-in from the private and public sectors and medical insurance companies; the generation of a locally relevant reference genome; training of health professionals in the field of genomics and bioinformatics; and multidisciplinary collaboration. Participants emphasised the importance of upscaling the accessibility to and training of GCs, as well as upskilling of clinicians and genetic nurses for return of genetic data in collaboration with GCs and medical geneticists. Future research could focus on exploring the development of stakeholder partnerships for increased access to trained specialists as well as community engagement and education, alongside the development of guidelines for result disclosure.