An Assessment of the Knowledge and Perceptions of Precision Medicine (PM) in the Rwandan Healthcare Setting.

INTRODUCTION: Precision medicine (PM) or personalized medicine is an innovative approach that aims to tailor disease prevention and treatment to consider the differences in people's genes, environments, and lifestyles. Although many efforts have been made to accelerate the universal adoption of PM, several challenges need to be addressed in order to advance PM in Africa. Therefore, our study aimed to establish baseline data on the knowledge and perceptions of the implementation of PM in the Rwandan healthcare setting. METHOD: A descriptive qualitative study was conducted in five hospitals offering diagnostics and oncology services to cancer patients in Rwanda. To understand the existing policies regarding PM implementation in the country, two additional institutions were surveyed: the Ministry of Health (MOH), which creates and sets policies for the overall vision of the health sector, and the Rwanda Biomedical Center (RBC), which coordinates the implementation of health sector policies in the country. The researchers conducted 32 key informant interviews and assessed the functionality of available PM equipment in the 5 selected health facilities. The data were thematically categorized and analyzed. RESULTS: The study revealed that PM is perceived as a complex and expensive program by most health managers and health providers. The most cited challenges to implementing PM included the following: the lack of policies and guidelines; the lack of supportive infrastructures and limited suppliers of required equipment and laboratory consumables; financial constraints; cultural, behavioral, and religious beliefs; and limited trained, motivated, and specialized healthcare providers. Regarding access to health services for cancer treatment, patients with health insurance pay 10% of their medical costs, which is still too expensive for Rwandans. CONCLUSION: The study participants highlighted the importance of PM to enhance healthcare delivery if the identified barriers are addressed. For instance, Rwandan health sector leadership might consider the creation of specialized oncology centers in all or some referral hospitals with all the necessary genomic equipment and trained staff to serve the needs of the country and implement a PM program.

Trends of Molecular Testing for Lung Cancer at the King Faisal Hospital, Kigali: Therapeutic and Survival Implications.

Introduction: Lung cancer is the leading cause of cancer mortality worldwide, both in high and low resource settings. Knowledge has been generated elsewhere regarding molecular subtyping and subsequent targeted therapy development, contributing substantially to patient survival. Little is known on the data around lung cancer and its treatment outcomes in Sub-Saharan Africa. This study describes the experience in lung cancer diagnosis, molecular and biomarker testing, and treatment for advanced cases in a single institution in East Africa, between the years 2019 and 2021. Methods: This was a retrospective observational study evaluating patients with metastatic (stage IV) lung cancer. Data on patient demographics, histologic diagnosis, molecular and biomarker testing, and treatment details and outcomes were collected. Molecular test results were reported as positive if there were biomarkers identified (e.g., EGFR, ALK, programmed death-ligand 1), and patients who had negative test results were reported as negative for biomarkers. Results: A total of 14 patients were diagnosed with having stage IV disease, and all were proposed to undergo molecular testing. For 12 (86%) patients who were able to have molecular testing done, EGFR and programmed death-ligand 1 were the most common with 66.7% (N = 8) of tissues with either finding. For all 14 patients, treatment changes were made for eight patients (57.1%) after being primarily placed on a combination of paclitaxel and carboplatin for an average of six cycles. Changing treatment significantly improved the 2-year overall survival (85% versus 25%, p = 0.0006). Conclusions: Despite being the number one cause of mortality, gains are being made in poor-resource settings to improve the survival of patients with advanced lung cancers. Limitations to this quest remain misdiagnosis and delayed diagnosis and resource constraints for both molecular testing and subsequent treatments.

Diaphyseal giant cell tumor with multiple relapses in a skeletally immature patient: a case report.

Giant cell tumor (GCT) is an aggressive osteolytic lesion mostly affecting the meta-epiphyses of long bones at skeletal maturity. Occurrence of the GCT in diaphysis is a rare entity in adult and exceptionally rare in pediatric population. This is the only third diaphyseal case reported in pediatric population. We report a case of recurrent diaphyseal GCT in a skeletally immature patient of 15-year-old male at the right radius after previous resection with plate and screw fixation. Upon optimal investigations, en-bloc resection of the tumor with radial resection and ulna centralization with wrist arthrodesis was done for a campanacci stage III GCT. The patient had an uneventful recovery without recurrence for 2 years and 2 months following surgery. The main challenge relies on accurate diagnosis due to uncommon location that hinders adequate treatment plan, therefore diagnosis should be solely based on histopathology findings.

Utility of p16INK4a expression for the interpretation of uterine cervical biopsies in Kenya.

INTRODUCTION: histologic interpretation of hematoxylin and eosin-stained cervical biopsies is subject to substantial discordance among pathologists. Immunohistochemical staining for p16INK4a can reduce inter-observer disagreement. We did a cross-sectional study to evaluate the utility of p16INK4a staining in the assessment of cervical biopsies in Nairobi, Kenya. METHODS: hematoxylin and eosin-stained sections from 91 colposcopic biopsies diagnosed as negative for dysplasia or as cervical intraepithelial neoplasia (CIN) grade 1-3 from 2011-2013 in Nairobi, Kenya, were reviewed and immunostained for p16INK4a. Agreement in interpretation of cervical biopsies was compared between primary and consensus review results. RESULTS: on primary evaluation, 16 cases were negative for squamous dysplasia; 23 were CIN 1; 37 CIN 2; and 15 CIN 3. On consensus review, 32 cases were negative for dysplasia; 19 were CIN 1; 16 CIN 2 and 24 CIN 3. Agreement was moderate between primary and consensus histology review results for the diagnosis of low-grade versus high-grade squamous intraepithelial lesions (Kappa = 0.568). None of the cases negative for dysplasia were positive for p16INK4a expression, but in primary and consensus review results, 17% and 5% cases of CIN 1; 49% and 69% of CIN 2, and 80% and 96% of CIN 3 were p16INK4a positive, respectively. CONCLUSION: there was significant variability in the interpretation of cervical biopsies on hematoxylin and eosin between primary and consensus review assessments. 75% of CIN 1 cases that were upgraded to CIN 2 during consensus review expressed p16INK4a. These findings demonstrate the role of p16INK4a in increasing diagnostic accuracy and as a marker of high-grade CIN 2/3.

Pathology Characteristics of Lymphomas in Rwanda: A Retrospective Study.

BACKGROUND: Lymphomas have been a global challenge for many decades and despite measures for prevention and management, the incidence continues to increase. There are two main categories, which are Non-Hodgkin's Lymphomas and Hodgkin's Lymphomas and most common etiologies are environmental, genetic alteration, radiation and some viruses. OBJECTIVE: To describe pathology characteristics of lymphomas in Rwanda based on Hematoxylin and Eosin stained glass slides and immuno histo chemistry, and classify them according to clinical aggressiveness. PATIENTS AND METHODS: We conducted a retrospective observational and descriptive study from January 2013 to December 2019. Lymphoma cases were retrieved together with relevant clinical and pathological information, and reviewed by independent pathologists. Histological diagnosis was classified according to the 2008 World Health Organization system in order to assign clinical aggressiveness of the lymphoma. RESULTS: Three hundred and six lymphoma cases were enrolled. Males contributed to 57% of all reviewed case, and slightly over 50% were young aged ≤35 years. Approximately 191 (62%) of cases were nodal lymphomas. Approximately one fifth (18%) of lymphoma cases were HIV positive. Most 213(70%) cases were Non-Hodgkin's Lymphomas of aggressive forms 164(77%). Among 164 cases of aggressive Non-Hodgkin's Lymphomas, diffuse large B cell lymphoma was the leading subtype 91(55.5%), followed by solid lymphoblastic lymphoma 32(19.5%) and Burkitt lymphoma 17(10.4%). Among all Hodgkin lymphoma cases, 90(97%) were classical Hodgkin lymphomaof nodular sclerosis subtype. Hodgkin lymphoma patients were younger compared to Non-Hodgkin's Lymphomas patients (mean age of 24.78±16.3 years versus 38.6±22. 5years, p=.000). CONCLUSION: Substantial proportion of Lymphomapatients in Rwanda were also HIV positive. Interestingly, Non-Hodgkin's Lymphomas in Rwanda are predominated by the most aggressive forms, and these mostly affect a younger population. Optimal characterisation of such cases, using advanced methods, is recommended.

Highly successful treatment outcome of multidrug-resistant and genetic diversity of multidrug-resistant Mycobacterium tuberculosis strains in Rwanda.

OBJECTIVE: To determine prevalent MDR-TB genotypes and describe treatment outcome and bacteriology conversion in MDR-TB patients. METHODS: Review of laboratory records of 173 MDR-TB patients from all over Rwanda who initiated treatment under programmatic management of MDR-TB (PMDT) between 2014 and 2015. Fifty available archived isolates were genotyped by mycobacterial interspersed repetitive units - variable number of tandem repeats (MIRU-VNTR) genotyping. RESULT: Of the 170 patients whose outcome was known, 114 (66.3%) were cured and 36 (21%) completed the treatment, giving a successful outcome (cured and completed) of 150 (87.3%) patients. Of 20 MDR-TB patients with unfavourable treatment outcome, 18 died, one failed and one defaulted/stopped treatment. Of the 18 patients who died, 11 (61%) were HIV-coinfected. The treatment outcome was successful for 93.9% among HIV negative and 81.8% among HIV-coinfected patients (P = 0.02). Sputum smear conversion occurred in 3, 46, 57 and 78 patients before 2, 3, 4 and 6 months, respectively, with median time of sputum smear and culture conversion at 3 months. The 44 MDR-TB isolates with MIRU-VNTR result, showed high genetic diversity with low clustering rate (9.09%) and Uganda II being the most prevalent sub-family lineage detected in 68.2% of isolates. Beijing family was the least common genotype detected (2.3%, 1 isolate). CONCLUSION: The high success rates for MDR-TB treatment achieved in Rwanda were comparable to outcomes observed in resource-rich settings with HIV being an independent risk factor for poor treatment outcome. High genetic diversity and low clustering rate reported here suggest that reactivation of previous disease plays an important role in the transmission of MDR-TB in Rwanda.

OBJECTIF: Déterminer les génotypes prévalents de la TB-MDR et décrire les résultats du traitement et la conversion bactériologique chez les patients atteints de TB-MDR. MÉTHODES: Analyse des dossiers de laboratoire de 173 patients atteints de TB-MDR de l'ensemble du Rwanda qui ont débuté un traitement sous prise en charge programmatique de la TB-MDR (PMDT) entre 2014 et 2015. Cinquante isolats archivés disponibles ont été génotypés pour les unités répétitives intercalées de mycobactéries - nombre variable de tandems répétés (MIRU-VNTR). RÉSULTAT: Sur les 170 patients dont l'issue était connue, 114 (66,3%) étaient guéris et 36 (21%) avaient terminé le traitement, ce qui donne un résultat positif (guéri et complété) de 150 patients (87,3%). Sur 20 patients atteints de TB-MDR dont l'issue du traitement était défavorable, 18 sont décédés, un a eu un échec et le dernier a abandonné/arrêté le traitement. Sur les 18 patients décédés, 11 (61%) étaient coinfectés par le VIH. Le résultat du traitement a été positif pour 93,9% des personnes VIH négatives et 81,8% pour ceux coinfectées par le VIH (p = 0,02). La conversion des frottis d'expectoration est survenue chez 3, 46, 57 et 78 patients respectivement à 2, 3, 4 et 6 mois, avec une durée médiane entre le frottis d'expectoration et la conversion de culture de 3 mois. Les 44 isolats de TB-MDR avec un résultat MIRU-VNTR ont montré une diversité génétique élevée avec un faible taux de regroupement (9,09%) et la sous-famille de la lignée Ouganda II étant la plus prévalente détectée dans 68,2% des isolats. La famille Beijing était le génotype le moins fréquemment détecté (2,3%, 1 isolat). CONCLUSION: Les taux de succès élevés du traitement de la TB-MDR obtenus au Rwanda étaient comparables aux résultats observés dans les régions riches en ressources, le VIH étant un facteur de risque indépendant d'un mauvais résultat du traitement. La diversité génétique élevée et le faible taux de regroupement rapportés ici suggèrent que la réactivation d'une maladie antérieure joue un rôle important dans la transmission de la TB-MDR au Rwanda.

Incidence, root causes, and outcomes of surgical site infections in a tertiary care hospital in Rwanda: a prospective observational cohort study.

BACKGROUND: Surgical Site Infections (SSI) are the most reported health acquired infection and common surgical complication in both developed and developing countries. In developing countries such as Rwanda, there is a paucity of published reports on the pattern of SSI, therefore this study aimed at assessing the incidence, risk factors and the antibiotic profile of pathogens responsible of SSI. METHODS: This prospective study included 294 patients admitted between October 10, 2017 and February 12, 2018 to the surgical department of the University Teaching Hospital of Kigali. Patients data were collected using a structured and pretested questionnaire in English version. Regular follow-up was maintained until at least 30 days postoperatively. Samples were collected from suspected wounds and identified using different bacteria culture media. Data were analyzed using Statistical Package for the Social Sciences (SPSS) software word version 20.0. P-value < 0.05 was considered statistically significant. RESULTS: The overall incidence of SSI was 10.9%. The associated risk factors were found to be an increased age, ASA class, wound classification, skills and experience of the surgeon, longer duration of surgery (> 2 h), prolonged duration of hospital stay, blood transfusion and emergency surgery. The most common pathogens isolated were Klebsiella ssp (55%), followed by Escherichia coli (15%) and Proteus ssp (12%), Acinectobacter (9%), Staphylococcus aureus (6%) and coagulase-negative staphylococci (3%).The pathogens revealed different levels of antibiotic resistance; amoxy-clavilinic acid (98.8%), gentamicin (92.6%), ciprofloxacin (78.1%) and ceftriaxone (53.3%). On the other hand, Amikacin and imipinem were the only two most effective antibiotics for all isolated pathogens with 100% sensitivity. CONCLUSION: SSI incidence rate was revealed to be within acceptable international ranges. However, multi drug resistance was seen in half of the isolates leaving clinicians with few choices of drugs for the treatment of patients with SSI. Periodic surveillance of bacteria and antibiotic susceptibility coupled with the implementation of strict protocol for antibiotic administration and operative room regulations are important to minimize the burden of SSI with resistant bacteria pathogens.