PROJECT SUMMARY/ABSTRACT
The 20 years since publication of the draft human genome sequence in 2001 have been a truly transformational
era in the field of cancer research marked by ever more significant scientific milestones and a steadily
accelerating rate of progress. Global scientific initiatives focused on comprehensive characterization of tumor
genomes – such as The Cancer Genome Atlas (TCGA) and the Pan-Cancer Analysis of Whole Genomes
(PCAWG) – are radically transforming our approach to the prevention, diagnosis, and treatment of cancer.
Surprisingly, although both TCGA and PCAWG included tumors from patients on many continents, few tumors
from Africa were included in their analyses. Moreover, the number of African scientists involved in the two
projects was limited. The paucity of African tumors analyzed by TCGA and PCAWG, and the dearth of African
scientists involved in their analysis, is concerning given that Africa is home to 1.4 of the world’s 7.9 billion
inhabitants, and much of human genetic variation is found only on the African continent. The profound under-
representation of African genomes and tumors – and of African scientists – in cancer genomics studies is
attributable to many factors, but the lack of requisite infrastructure for genomic research in Africa and the limited
number of genomics professionals in Africa who are trained in both the generation and analysis of genomic data
are major contributors. To ensure that the transformative benefits of recent advances in cancer genomics to the
prevention, diagnosis, and treatment of cancer will be realized in Africa, dedicated initiatives must be undertaken
to increase the number of trained genomics professionals in Africa. In this application, the Fred Hutchinson
Cancer Research Center in Seattle, WA and the Uganda Cancer Institute in Kampala, Uganda – two premier
institutions that have been collaborating since 2004 to conduct cancer research and to increase the capacity for
high-quality cancer research, training, and clinical care in Uganda and East Africa – propose to extend their well-
established collaboration to address the critical shortage of African genomics professionals who are trained in
the generation and the analysis of cancer genomic data. We hypothesize that improving the supply of African
professionals who can both generate cancer genomic data of reproducibly high quality and analyze those data
rigorously and comprehensively will accelerate the development of an Africa-based cancer genomics community
and ensure that the advances of the cancer genomics revolution will maximally benefit African cancer patients.
Over a period of 5 years, and in conjunction with the Infectious Diseases Institute of the College of Health
Sciences, Makerere University, the Fred Hutch and UCI will support 4 Ugandan or East African individuals who
will complete master’s degrees, and 2 who will complete doctoral degrees, in Bioinformatics with a focus on
cancer genomics and genomic data science. We anticipate that graduates of the program will become the
leaders of the cancer genomics community in Uganda and East Africa.