The clinical utility of polygenic risk scores in genomic medicine practices: a systematic review.

Genomic medicine aims to improve health using the individual genomic data of people to inform care. While clinical utility of genomic medicine in many monogenic, Mendelian disorders is amply demonstrated, clinical utility is less evident in polygenic traits, e.g., coronary artery disease or breast cancer. Polygenic risk scores (PRS) are subsets of individual genotypes designed to capture heritability of common traits, and hence to allow the stratification of risk of the trait in a population. We systematically reviewed the PubMed database for unequivocal evidence of clinical utility of polygenic risk scores, using stringent inclusion and exclusion criteria. While we identified studies demonstrating clinical validity in conditions where medical intervention based on a PRS is likely to benefit patient outcome, we did not identify a single study demonstrating unequivocally such a benefit, i.e. clinical utility. We conclude that while the routine use of PRSs hold great promise, translational research is still needed before they should enter mainstream clinical practice.

Nigerian parents' perspectives on genetic testing in their children with genetic eye diseases.

The decision for genetic testing in children is usually taken by their parents or caregivers, and may be influenced by sociocultural and ethical concerns. This study evaluateds the perspectives of Nigerian parents towards genetic testing of their children with genetic eye diseases parental willingness for genetic testing in their children, and its determinants, in a hospital setting in Nigeria. This cross-sectional, hospital-based study was conducted at the Eye clinic, University College Hospital, Ibadan. The participants were 42 parents of children with genetic eye diseases purposively recruited from April to July 2021. The main variables of interest were overall willingness to test, and willingness to test given ten different scenarios. Summary statistics were performed, and determinants of willingness to test (parental sociodemographic and children's clinical characteristics) were assessed using Fischer's exact test. All the participants expressed willingness to test when presented with six of the ten scenarios.However, slightly fewer (83-95%) proportions were willing to test for the other four scenarios (out-of-pocket payment, if test will reveal a systemic association, if test may confirm a diagnosis with no current treatment, and prenatal testing). Willingness to test was not significantly associated with the determinants tested. Thirty-nine (93%) would join a support group, 38 (91%) would inform a family member at risk, and 28 (67%) would be unwilling to have more children if there wais a risk to future offspring. This study demonstrated a high degree of parental willingness for genetic testing of their children. This is important evidence that can guide policy and planning of ophthalmic genetics services.

Burden and clinical profile of genetic eye diseases in children in Nigeria: a descriptive cross-sectional study.

Introduction: ophthalmic genetics is rapidly evolving globally but is still nascent in much of sub-Saharan Africa, with gaps in knowledge about the burden in the region. This study evaluated the burden and manifestations of genetic eye diseases in children in Ibadan, Nigeria. Methods: this was a hospital-based cross-sectional study in which new and follow-up paediatric eye clinic patients were recruited consecutively at the University College Hospital, Ibadan. Children with genetic eye diseases had comprehensive ocular and systemic examinations, and their pedigrees were charted to determine the probable modes of inheritance. The main outcome variables were the proportion of study participants with genetic eye diseases, the probable modes of inheritance, and the clinical diagnoses. Summary statistics were performed using means and standard deviations for numerical variables and proportions for categorical variables. Results: fifty-two (12%) of 444 children had genetic eye diseases, and their mean (SD) age was 88.8 ± 50.4 months. Thirteen different phenotypic diagnoses were made following the evaluation of the 52 children, including primary congenital glaucoma (13, 25%) and familial non-syndromic cataracts (8, 15%). The probable modes of inheritance were derived from the pedigree charts, and 30 (58%) conditions were presumed to be sporadic. Conclusion: this study demonstrated a significant burden and a wide range of paediatric genetic eye diseases in this tertiary referral centre in Nigeria. This information provides invaluable evidence for planning ophthalmic genetic services.

Indications for surgery amongst new patients presenting to the paediatric ophthalmology unit of the University College Hospital, Ibadan.

OBJECTIVE: The objective of the study was to determine the proportion of children requiring ocular surgery amongst new patients presenting to the Paediatric Ophthalmology Unit of the University College Hospital, Ibadan, over a 2-year period, to enhance planning and improve the efficiency of service delivery. METHODS: The study was a retrospective review of records of all new patients aged 0-16 years who presented to the Paediatric Ophthalmology Unit of the University College Hospital, Ibadan, over a 2-year period (May 2015-April 2017). Information on age and gender, clinical diagnosis and indications for surgery and type of surgery scheduled were retrieved from the diagnosis register of the unit, and a descriptive analysis was performed. RESULTS: Of the 1240 children who presented to the clinic within the study period, 142 (11.5%) needed surgical interventions. Their ages ranged from 1 month to 16 years, with a mean age of 6.4 ± 4.7 years. Seventy-nine (55.6%) of these were males. The most common indications for surgery were cataract and cataract-related indications (n = 122, 85.9%), followed by glaucoma and strabismus. Other less common indications for surgery were nasolacrimal duct obstruction and epibulbar dermoid. CONCLUSION: Paediatric cataract, the leading cause of childhood blindness in this environment, presents the greatest surgical burden in our unit. It should, therefore, be a major focus of personnel training and equipment procurement for paediatric ophthalmology services in our environment.

Eye Care Practices, Knowledge, and Attitude of Glaucoma Patients at Community Eye Outreach Screening in Nigeria.

Background: Community eye outreach (CEO) screening is an important model which has been widely employed to detect eye conditions such as cataract and glaucoma in high-risk groups. There is a dearth of data on the eye care practices of glaucoma patients identified using this model in South West Nigeria. Objectives: The aim of this article is to assess the eye care practices, knowledge, and attitudes of glaucoma patients/suspects identified at CEO screenings in Nigeria. Design of the Study: This was a mixed method study with quantitative and qualitative approaches. Setting in Which the Study Took Place: The study was carried out at 24 outreach screening centres in communities in Oyo and Osun states. Materials and Methods: The quantitative component of this study was a cross-sectional survey of patients with suspected glaucoma identified at routine CEO in South West Nigeria. Surveys were administered by trained personnel and gathered information on knowledge and attitudes towards glaucoma. The qualitative component consisted of structured interviews with providers to assess their knowledge and perspectives of glaucoma patients' attitudes and behaviours. Results: A total of 1881 patients were screened at 24 outreach screenings in South West Nigeria, among which 120 glaucoma cases/suspects were identified. Fifty-six (46.7%) of the glaucoma patients were aware of glaucoma, but only 39 (32.5%) patients could answer at least one knowledge question correctly. Predictors of awareness of glaucoma were minimum of secondary school education [adjusted odds ratio (OR) 8.76; 95% confidence interval (CI) 3.18-24.13] and having had an eye check-up in the past (adjusted OR 5.87; 95% CI 1.92 - 17.92). Patients said cost and 'not knowing the disease was serious' were reasons for not following up at the main hospital. Health workers interviewed said that cost and poor knowledge were the main reasons glaucoma patients frequently attended free outreach screening events rather than seeking definitive care. Conclusion: Although CEO screenings improve access to eye care, provision of appropriate health education programs and strengthening of the health insurance scheme are needed to improve its impact in glaucoma care.

Awareness and knowledge about glaucoma and proportion of people with glaucoma in an urban outreach programme in Southeast Nigeria.

AIM: The aim of this study was to determine the level of awareness and knowledge of glaucoma and the proportion of people with glaucoma among participants of a 1-day urban eye outreach programme. METHODS: The study was a cross-sectional survey. Data, collected by means of a structured questionnaire, included participants' demographic details, and awareness, knowledge and ocular status as regards glaucoma. Publicity for the outreach was created through the mass media (radio stations and television), churches, handbills, posters and different hospital staff. Data analysis was by Statistical Package for Social SciencesV.20.0. Associations between participants' demographic and other details were tested using Pearson's χ2 test, and a p value of <0.05 was considered significant. RESULTS: Four hundred and seventy-eight (93.2%) of the 513 people in attendance were eligible and consented to participate. Awareness, knowledge and proportion of people with glaucoma in the study population were 65.5%, 36.8% and 14.5%, respectively. Awareness was significantly associated with attainment of some formal education, awareness of a positive family history, and having had an eye check prior to the outreach. The mass media was the most common information source. Good knowledge level was significantly associated with higher educational attainment and occupation, whereas proportion of people with glaucoma was significantly associated with increasing age. CONCLUSION: Improving awareness with suitable content for the target population through effective means such as the mass media may be a veritable first step in combating blindness from glaucoma.