Identifying proteomic risk factors for cancer using prospective and exome analyses of 1463 circulating proteins and risk of 19 cancers in the UK Biobank.

The availability of protein measurements and whole exome sequence data in the UK Biobank enables investigation of potential observational and genetic protein-cancer risk associations. We investigated associations of 1463 plasma proteins with incidence of 19 cancers and 9 cancer subsites in UK Biobank participants (average 12 years follow-up). Emerging protein-cancer associations were further explored using two genetic approaches, cis-pQTL and exome-wide protein genetic scores (exGS). We identify 618 protein-cancer associations, of which 107 persist for cases diagnosed more than seven years after blood draw, 29 of 618 were associated in genetic analyses, and four had support from long time-to-diagnosis ( > 7 years) and both cis-pQTL and exGS analyses: CD74 and TNFRSF1B with NHL, ADAM8 with leukemia, and SFTPA2 with lung cancer. We present multiple blood protein-cancer risk associations, including many detectable more than seven years before cancer diagnosis and that had concordant evidence from genetic analyses, suggesting a possible role in cancer development.

Perceptions of Nigerian medical students regarding their preparedness for precision medicine: a cross-sectional survey in Lagos, Nigeria.

BACKGROUND: Advances in precision medicine in Nigeria suggest improving genomics education and competency among healthcare practitioners to facilitate clinical translation. Due to the scarcity of research in this area, this study aimed to assess Nigerian medical students' perceptions about their preparedness to integrate precision medicine into their future clinical practice. METHODS: This was an institution-based cross-sectional study of medicine and surgery students in their clinical years attending the two fully accredited colleges of medicine in Lagos, Nigeria, between April and October 2022 using an adapted tool administered via Google Forms. The survey assessed their awareness, perceptions about knowledge, ability, and attitudes toward precision medicine, ethical concerns, and perceptions about their education in precision medicine. Multivariate linear regression models were used to assess factors associated with students' perceptions of their knowledge, ability, and attitudes. RESULTS: A total of 300 students completed the questionnaires with a response rate of 40%. Awareness of genomic medicine terminology was high (92.0%). Responses to knowledge and ability questions revealed notable gaps, however, respondents had positive attitude scores overall. Higher medical school year was independently associated with lower knowledge (ptrend = 0.003) and ability (ptrend = 0.005) scores, and knowledge score was independently associated with a higher ability score (ß: 0.76 95%CI: 0.67, 0.84; p < 0.001). Attitude scores significantly increased with increasing medical school year (ptrend = 0.04). The respondents mostly indicated concerns about government and corporate bodies' misuse of genomic data (35.7%) and the widening of socioeconomic disparities (34.0%). Although 65.0% of the respondents thought it important to learn about precision medicine, only 11.3% felt that their education had adequately prepared them for precision medicine, knew who to ask questions regarding genomic testing (10.7%), and felt their professors had encouraged the use of precision medicine (10.3%). CONCLUSION: Despite high awareness of precision medicine terminology and overall positive attitudes, our findings highlight gaps in knowledge and ability to integrate genomics into the care of patients and a need to improve precision medicine education among Nigerian medical students.

Health-Related Quality of Life Among Patients With Sickle Cell Disease in an Adult Hematology Clinic in a Tertiary Hospital in Lagos, Nigeria.

Background Sickle cell disease (SCD) is a genetic disease of public health concern. Improved quality healthcare has increased the life expectancy of these patients; however, they also face an increased frequency of vaso-occlusive crises and other SCD complications. These complications affect their quality of life, an area of care, which healthcare providers often overlook. We sought to determine the health-related quality of life among patients living with sickle cell disease in Lagos, Nigeria.  Materials and methods We conducted a cross-sectional study of 198 patients with sickle cell disease who attended the adult sickle cell clinic at a tertiary hospital in Lagos, Nigeria, during the period from October 1, 2018, to February 28, 2019. A self-administered questionnaire was used to obtain the clinical and socio-demographic characteristics of the patients and the 35-item Short-Form Health Survey (SF-36) questionnaire was used to determine their health-related quality of life (HRQoL). Determinants of HRQoL were established using bivariate and multivariate regression analysis.  Results The mean age of the 198 patients who participated in the study was 28.4±9.1 years, mean steady-state hemoglobin was 8.2 ± 1.3 g/dl, and 85 (42.9%) patients had a monthly income of 150 USD or less. In the previous year, 65 (32.1 %) and 33 (16.6%) patients, respectively, suffered one to two episodes (s) of acute bone pain crises and acute chest syndrome, and 43 (24.7%) had blood transfusion. Using the scoring system for SF-36 provided by RAND Health, role limitation due to physical health had the lowest median score of 50 (interquartile range {IQR}: 0-100). On bivariate analysis, bone pain crisis was associated with statistically significant low scores across all the 8 HRQoL domains of the SF36 questionnaire. Other variables, including having received blood transfusion, recent hospitalization, acute chest syndrome, lower level of income, and younger age, were also associated with significantly low scores. On regression analysis, bone pain crisis, level of income, and acute chest syndrome were found to be independent determinants of quality of life in the patients. Conclusion Sickle cell disease has a negative impact on the health-related quality of life of those affected. The presence of bone pain crisis is an important predictor of health-related quality of life in sickle cell disease patients. To improve patient outcomes, healthcare providers should take a holistic approach in evaluating and managing this disease, taking into cognizance how the complications and the financial burden of this disease impact the quality of life of affected patients.