The completion of the Human Genome Project in 2003 stimulated a race towards translating a momentous scientific effort into tangible socio-economic benefits, notably in the form of better diagnostic tests and enhanced therapeutic treatments.
In conjunction with this initiative, a new paradigm, Precision Medicine, emerged with a view to tailor the treatment of patients on the basis of more comprehensive molecular profiling of a disease. The new paradigm was strongly influenced by the concomitant emergence of new molecular laboratory applications, in particular next-generation DNA sequencing (NGS) technologies.
An entire genomics industry developed to generate technical innovations that led to a decrease in cost of sequencing from > USD 1bn for a genome to a few thousand USD today. Consequently, the need for converting a mass of molecular data into meaning rose dramatically, shifting the complexity in Genomics from generating new information to managing and interpreting diverse sets of data on an unprecedented scale.
Precision Medicine is fueled by the hope that new genomics applications will deliver deep insights into disease-causing molecular traits, therefore facilitating a more granular diagnosis of disease and a more effective choice of treatment. It is used today to develop and implement applications with advanced clinical utility in areas such as oncology, reproductive health, and pediatrics, contributing positively towards population health and individual well-being.
Yet, for the most part, cutting-edge Precision Medicine solutions are presently not available to the majority of (South) African patients. Among others, this has negative implications for clinical conditions, such as cancer, diabetes and cardiovascular disease.
Artisan Biomed aims to develop Precision Medicine in South Africa by virtue of implementing four distinct solutions:
|NIPT (Non-invasive prenatal testing)||Non-invasive prenatal testing (NIPT) involves a simple blood screening that analyzes that DNA (cell-free DNA, or cfDNA) to pinpoint a baby’s risk for a number of genetic disorders including Down syndrome. NIPT is a screening test, i.e. not “diagnostic”; it provides the likelihood of a genetic disorder.||
|Prenatal cytogenetic testing||Prenatal
|Postnatal cytogenetic testing||Genetic testing services for children with developmental disorders with a putative underlying genetic causative effect. The tests are based on screening the entire DNA complement in a patient sample for the presence of copy number variations (CNVs) or insertions/deletions (‘indels’) of genetic material. An extreme case is trisomy 21, i.e. a triplicate copy of chromosome 21 (instead of duplicate), with well-known developmental and physiological problems.||
|Cancer sequencing||This type of application is for risk-profiling of cancer in patients with known or suspected familial risk for developing a cancer (most notably breast cancer in women and colorectal or prostate cancer in men). The test is carried out through DNA sequencing of cancer risk genes. A prominent example in this respect is BRCA1/2 sequencing to assess hereditary contributors towards the development of breast cancer in women.||
|Tumor sequencing||Tumor profiling using NGS focuses on a preselected subset of genes (aka gene panel). These panels contain genes that have known involvement in cancer, enabling the assessment of all potentially causative genes at the same time. The easily scalable technology allows for a more effective classification of tumor material and stratification of patients for treatment.||
|Exome sequencing||Exome sequencing (also known as Whole Exome Sequencing, WES or WXS) is a technique for sequencing all the expressed genes in a genome (known as the exome). There are 180,000 exons, which constitute about 1% of the human genome. WES is a more affordable alternative to genome sequencing and comes with the benefit of actionable reporting. WES has benefits over single or multiple gene panels because it avoids repetitive reflex testing and the accumulation of novel data at the same time.||
Artisan Biomed is a subsidiary of the Centre for Proteomic & Genomic Research (CPGR). The CPGR is one of Africa’s first fully integrated ‘omics’ service providers, built to leapfrog South Africa’s ability to conduct information-rich biomedical research at a globally competitive level.
It is a non-profit company located in Cape Town, South Africa, based on an initiative by the Department of Science and Technology (DST), and supported with funding by the Technology Innovation Agency (TIA). The CPGR combines state-of-the-art information-rich genomic and proteomic ('omics') technologies with bio-computational pipelines to create unique solutions for the life and biomedical sciences. All its applications are run in an ISO 9001:2008 certified and an ISO 17025 compliant manner.
Realising the opportunity and need for effective Genomic Medicine in South Africa, Artisan Biomed has entered into a partnership with Lancet Laboratories. The partnership has been created to leverage the parties’ respective strengths and capabilities to develop and implement cutting-edge molecular solutions for the South African health care market.
Considering a growing need for applications in non-communicable and rare genetic disorders, Artisan Biomed has a strong focus on rendering molecular testing services that generate actionable outcomes for doctors and patients.