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Yemaachi Biotech, Lucence Aim to Improve Genomic Breast Cancer Testing in Ghana and Beyond


NEW YORK – Cancer liquid biopsy firm Lucence and Ghanaian cancer research company Yemaachi Biotech are collaborating to more fully document and characterize the genomics of breast cancer in women of African descent.

Lucence expects to use the data generated in this pilot study to provide more personalized care to US patients of African descent, while Yemaachi aims to develop a low-cost liquid biopsy cancer test for women throughout Ghana and neighboring countries.

Last week, the partners announced the prospective and observational Liquid Biopsy for Detection of Actionable Genomic Mutations in Women of African Descent with Advanced Breast Cancer, or AMBER study. The project uses Lucence's LiquidHallmark liquid biopsy assay, alongside tissue samples, to evaluate the utility of cell-free DNA liquid biopsy testing to identify actionable mutations in metastatic breast cancers patients in Ghana and study their tumors' mutation profiles.

Specifically, it will look for actionable mutations in certain genes, including PIK3CA, BRCA1, BRCA2, and ESR1, in treatment-naïve metastatic breast cancer patients recruited at Cape Coast Teaching Hospital, with whom Yemaachi has collaborated in the past, including one recent study to assess the genetic diversity of SARS-CoV-2 among healthcare workers.

The collaborators, who are sharing the study costs equally, initially aim to examine known cancer-related mutations in 20 Ghanaian women with at least stage III breast cancer via Lucene's 80-gene blood panel and 500-gene tissue panel, and to seek new variants through whole-genome and whole-exome sequencing on their blood and tissue samples. Four women have been enrolled since recruitment started just over a month ago.

The AMBER study will run until all 20 women have been recruited and the results of their biopsies have been analyzed. From there, the companies hope to scale up to approximately 500 patients and move testing into women with earlier cancer stages, seeking actionable information that could inform treatment decisions and possibly even lead to early detection, which is currently an issue in Ghana.

Investigators will compare blood and tissue samples, evaluating the utility of liquid biopsy within this patient cohort. While Lucence will analyze patient blood and tissue samples at its US lab, Yemaachi will provide whole exome sequencing – also of both blood and tissue – locally in Ghana.

"I think this is the first study to comprehensively do both next-generation sequencing tissue as well as plasma [analysis] for African women," said Min-Han Tan, CEO of Lucence.

With AMBER still in early stages, some details on how exactly to develop an affordable and scalable breast cancer diagnostic test remain to be worked out. Beyond the technical hurdles of physically creating the test, it will need to be at least partially covered by Ghana's National Health Insurance Scheme.

Yemaachi said it has already initiated talks with the country's Ministry of Health regarding the company's plans and activities, although like the AMBER study itself, these are currently at an early stage.

Breast cancer is the most common cancer affecting women and the leading cause of cancer-related mortality among Ghanaian women.

"The problem in many parts of Africa is [that] most women present with breast cancer very late," said Yaw Bediako, founder and CEO of Yemaachi, which is based in Accra, Ghana's capital.

Ghana lacks a national breast cancer screening program, and various studies have estimated gaps of up to five years between initial symptom detection and reporting to a hospital. One study found an average span of 10.8 months between symptom detection and diagnosis.

Bediako explained that the general lack of public education concerning breast cancer means that in many cases, even when a lump is caught early, it may be ignored until it becomes such a problem that the woman must go to a hospital.

Reaching a hospital is sometimes easier said than done. The Ghanaian hospital system consists of five tiers of providers, from rural health posts to regional and teaching hospitals. The latter two are the most developed and provide most cancer testing and care.

Regional and teaching hospitals, however, are not evenly distributed throughout the country, imposing a further barrier to seeking care.

"Ghana has six teaching hospitals for a population of 32 million people," explained Emmanuella Amoako, a pediatric oncologist at Cape Coast Teaching Hospital and head of clinical affairs for Yemaachi. "Five of these hospitals are located in the southern part of the country and only one is located up north."

Adding to the complication of having to travel for care, signs of cancer sometimes go unnoticed by healthcare workers in smaller facilities.

"The health workers at a pharmacy or a community health clinic [may] not themselves be familiar with all the signs of cancer," Bediako said, "and many countries like Ghana don't have a lot of molecular testing. So even when a woman presents with something that looks like breast cancer, you're still very much dependent on classical histopathology [or] immunohistochemistry. If you're lucky, maybe some imaging, but really the idea of doing a genetic screen or a liquid biopsy just does not exist."

Because of this, Yemaachi and Lucence have incorporated an assessment of healthcare provider knowledge regarding the uses of molecular and genomic testing in the AMBER study. The collaborators plan to use these data to understand what sort of training providers would require if the companies later roll out a test.

A lack of genomic knowledge on the part of practitioners stems in part from longstanding African underrepresentation in genomic studies. One study estimated that slightly under two percent of the human genomes analyzed as of 2019 have been those of African people. This disparity carries health consequences, as genetic variants influence disease occurrence and therapy resistance, among other things.

This issue is not unique to Ghana.

"Few labs in Africa have genomics capabilities, either from an infrastructure or a talent perspective," said Abasi Ene-Obong, founder and CEO of 54gene, a Lagos, Nigeria-based biotechnology firm that also aims to increase the analysis of African genomes.

54gene has launched a project to sequence the genomes of some 100,000 Nigerians. While sequencing is ongoing, the company has already identified many variants whose frequencies differ from those found in European populations.

"Many known pharmacogenomic and disease-associated variants vary in frequency across the different ethnolinguistic groups in our study, which we believe will give insights into the differences in disease prevalence and risk that we see across these groups," Ene-Obong said.

54gene is currently in the process of setting up sequencing facilities across several regions in Africa, with active projects in three regions across the continent.

"Everything that is being used for precision medicine is based on a skewed data set," Bediako said. "So then maybe mutations that are actionable have just not been discovered, because no one has looked well enough. The penetrance of known mutations may not be the same in our population."

Mutation frequency also appears to differ between populations. A study of circulating tumor DNA in breast cancer patients published earlier this year found that triple negative breast cancers occur more frequently among Ghanaian women than in European populations.

Yemaachi plans to develop a genetic cancer test based on the results of the AMBER study, and to examine ways to increase testing capabilities in Ghana and across Africa. The expansion of local facilities would reduce the costs and longer turnaround times associated with having to send samples abroad for testing.

The company currently has one fully licensed molecular diagnostic lab with NGS capacity and is exploring ways to expand access through partners, both within Ghana and beyond.

"The key thing is building the capacity," Bediako said. "Our model is building that capacity locally. We could then provide the Africa base where we could begin to provide some of these services locally in partnership with a company like Lucence."