"When the rough draft of the human genome sequence was published in 2001, the cost of the project had reached 2.7 billion dollars. But for the genomic sequencing to reach a massive scale, the cost of sequencing a genome had to be less than 1,000 euros. 15 years later, that barrier has been broken thanks to new technologies, and this is helping to improve research in this field. But the lack of experts capable of interpreting this data is preventing genomic sequencing from improving people´s lives.
With the objective of bridging the gap between this technology and society, the Uruguayan Lucía Spangenberg has founded Genlives, a venture which has led to her recognition as one of MIT Technology Review, Spanish Edition´s Innovators Under 35 Argentina and Uruguay 2016. Genlives offers a platform for physicians and individuals to request a series of genomic tests whose results are interpreted by a clinical genomic expert with the help of artificial intelligence algorithms.
""The development of algorithms to analyze big data based on machine learning allows us to classify the variants detected according to established criteria,"" Spangenberg explains. Once the genetic variants have been identified, it is the expert´s job to interpret the data in clinical terms. ""This requires consulting a vast amount of literature and makes the diagnostic process hours longer for each variant to be analyzed,"" adds the young researcher.
Fortunately, the clinician is supported by the development of a natural language processing algorithm which reviews the literature automatically and presents the relevant literature for each case under review. ""This allows the diagnosis to happen in a question of minutes,"" the young Uruguayan concludes.
""In Uruguay, today genomics is only used in research projects like the Uruguayan Human Genome, but not to improve the population´s health,"" Spangenberg, who previously worked on the aforementioned project at the Pasteur Institute in Montevideo (Uruguay), points out. So she decided to use her genomic and bioinformatics know-how to launch Genlives to offer this service with the support of the institute´s business incubator.
The general director of Endeavor Argentina and jury member for the Innovators Under 35 Argentina and Uruguay 2016 awards, Gabiela Macagni, believes that Genlives ""will make genomic medicine accessible to the medical community and patients."" She also highlights the added value of the medical interpretation of the results offered by Lucía Spangenberg´s company."