Improved biorepository to support sickle cell disease genomics and clinical research: A practical approach to link patient data and biospecimens from Muhimbili Sickle Cell Program, Tanzania

Abstract

Genetic modifiers underlying various sickle cell disease phenotypic expressions are largely unexplored in Africa due to lack of databases linking biospecimens with demographic and clinical data. The problem may be compounded by a complete lack of biorepositories in these settings. This article aims to document the physical verification of biospecimens stored in the biorepository and link them to patient clinical and demographic information to facilitate plans for genomic and related clinical research studies. We reviewed and updated the existing biorepository infrastructure at Muhimbili Sickle Cell Programme in Dar es Salaam, Tanzania. The database of archived biospecimens was updated with the location information of respective biospecimens following the physical verification of biospecimens and then mapping the patient demographic and clinical data with the biospecimen data using sickle cell patients’ demographic identifiers. Three freezers maintained at -80°C store a total of 74,079 biospecimens, of which 63,345 were from 5,159 patients registered in the Muhimbili Sickle Cohort from 2004 to 2016. Out of stored biospecimens, follow-ups were 46,915 (74.06%), control 8,067 (12.74%), admission 5,517 (8.71%) and entry 2,846 (4.49%). Of these registered patients, females were 2,521 (48.87%) and males were 2,638 (51.13%). The age distribution was 1 to 59 years, with those above 18 years being 577 (11.18%) and children 4,582 (88.82%) of registered patients. The notable findings during the process include a lack of automated biospecimen checks, laboratory information management system and standardization of equipment used, biospecimens not linked to clinical and demographic data, date format inconsistencies, lack of regular updating of a database on exhausted biospecimens and updates when biospecimens are moved between positions within freezers. Well-organized biorepository plays a crucial role in answering future research questions. Enforcing strict standard operating procedures and quality control standards will ensure that laboratory scientists and other users adhere to the best biospecimen management procedures.