ABSTRACT
Objective To compare the financial and time cost of breast cancer biomarker analysis by immunohistochemistry with that by the Xpert® STRAT4 assay. Methods We estimated costs (personnel, location, consumables and indirect) and time involved in breast cancer diagnosis at the Butaro Cancer Centre of Excellence, Rwanda, using time-driven activity-based costing. We performed a cost-minimization analysis to compare the cost of biomarker analysis for estrogen receptor, progesterone receptor and human epidermal growth factor receptor-2 status with immunohistochemistry versus STRAT4. We performed sensitivity analyses by altering laboratory-specific parameters for the two methods. Findings We estimated that breast cancer diagnosis in Rwanda costs 138.29 United States dollars (US$) per patient when conducting biomarker analysis by immunohistochemistry. At a realistic immunohistochemistry antibody utilization efficiency of 70%, biomarker analysis comprises 48.7% (US$ 67.33) of diagnostic costs and takes 33 min. We determined that biomarker analysis with STRAT4 yields a reduction in diagnosis cost of US$ 7.33 (10.9%; 7.33/67.33), and in pathologist and technician time of 20 min (60.6%; 20/33), per patient. Our sensitivity analysis revealed that no cost savings would be made in laboratories with antibody utilization efficiencies over 90%, or where only estrogen and/or progesterone receptor status are assessed; however, such operational efficiencies are unlikely, and more laboratories are pursuing human epidermal growth factor receptor-2 analysis as targeted therapies become increasingly available. Conclusion Breast cancer biomarker analysis with STRAT4 has the potential to reduce the required human and capital resources in subSaharan African laboratories, leading to improved treatment selection and better clinical outcomes.
Subject(s)
Humans , Male , Female , Breast Neoplasms , Immunohistochemistry , Biomarkers, Tumor , Diagnosis , RNA, Messenger , Estrogens , Pathology, Molecular , GeneticsABSTRACT
Albinism is an inherited condition associated with significant depigmentation of the skin, hair and eyes. It occurs in every population with varying frequency, and narratives of people with albinism have been recorded since 200 BC. In southern Africa albinism is common, about 1 in 4000 people are affected, but it remains a poorly understood condition surrounded by myths and superstition. This article provides a historical background on oculocutaneous albinism (OCA) in southern Africa and presents relevant information from the literature regarding epidemiology, genetics and genetic counselling, health, psychosocial and cultural issues, and medical care. There are several recessively inherited types of OCA and a mutation, responsible for about 80%of South African variants, has been identified in OCA type 2. The physical characteristics associated with albinism, that is, sun-sensitive skin and low vision, can be managed. However, people with OCA in Africa also experience psychosocial issues, such as discrimination, because of the various superstitious beliefs and attitudes held in the community. Management should include medical care for health problems, appropriate adjustment of the schooling context and genetic counseling. In addition, widespread public awareness programs are required to increase the knowledge of the genetic causes of OCA and of the nature of genetic counselling, to address the negative attitudes in the community, to reduce the marginalization and stigmatization of people with albinism and to improve their quality of life.
Subject(s)
Psychology , Developmental Disabilities , Albinism , Health , Albinism, Oculocutaneous , Epidemiology , GeneticsABSTRACT
Ownership with regard to human biological material (HBM) is addressed to some extent within South African law; specifically in chapter eight of the National Health Act (NHA) and its associated regulations. However; members of the legal fraternity struggle to conceptualise ownership of such materials without objectifying a person or people and risking reducing such individuals to a state of property. This then infers a reduction in human dignity by rendering one-self or parts of that same self as a commodity. The complexity of the issue raises much debate both legally as well as ethically
Subject(s)
Genetics , Health Planning , Jurisprudence , Legislation , OwnershipABSTRACT
Notre etude a pour but de prouver l'existence d'anomalies genetiques dans les cas de sterilite du couple en Cote d'ivoire. Il s'agit d'une etude prospective portant sur 10 patients de sexe masculin ages de 30 a 52 ans (moyenne d'age 37 ans) consultant pour infertilite du couple et presentant une anomalie severe du spermogramme; une spermoculture negative et des dosages hormonaux perturbes. Nos patients sont maries ou vivent en concubinage. Ils presentent dans 70 pour cent des cas; une infertilite primaire. Le dosage de FSH-LH est eleve chez 60 pour cent des patients. AU PLAN CYTOGENETIQUE : -Le spermogramme a revele une azoospermie dans 60 pour cent des cas et une oligospermie severe dans 30 pour cent des cas ; -L'analyse cytogenetique a mis en evidence dans 70 pour cent des cas; le syndrome de Klinefelter. Il se caracterise par la presence d'un chromosome X supplementaire au niveau des gonosomes. Cette anomalie mise en evidence par le caryotype; est soit homogene (47;XXY) soit en mosaique (46;XY/47;XXY). Le sexe chromatinien est positif. L'existence de ce syndrome montre qu'il existe dans nos populations et qu'il faut penser a le rechercher devant une azoospermie ou une oligospermie severe associee a une elevation du taux de FSH et de LH ; -Pour les patients presentant une azoospermie; des perturbations hormonales et un caryotype normal; une etude plus precise du chromosome Y et de l'ADN permettrait de verifier ou de rechercher des microdeletions ou des mutations responsables de ces anomalies. Apres toute constatation de spermoculture negative et de dosages hormonaux perturbes; Il parait maintenant raisonnable d'estimer que l'etude chromosomique chez des hommes azoospermes ou oligospermes severes est un parametre important non seulement pour aider au diagnostic de la cause de la sterilite mais peut etre surtout pour mieux comprendre les causes des troubles de la reproduction
Subject(s)
Cote d'Ivoire , Genetics , Infertility, Male , Infertility, Male/diagnosis , Karyotype , Klinefelter Syndrome , OligospermiaABSTRACT
La genetique des populations n'est pas seulement pour le parasitologue une discipline de sciences fondamentales; mais elle constitue en fait un detour oblige pour tout chercheur desireux de caracteriser les souches de parasites a l'aide des outils nouveaux apportes par la biochimie et la biologie moleculaire. Refuser ce detour equivaut a chercher a utiliser une machine complexe sans son mode d'emploi