I hope I can help you. When reading articles such as this, it's important to understand the story as a whole. My understanding of the story: A particular human gene (BRCA1) was patented by a US medical firm, and Myriad Genetics held this patent. (The gene was discovered in the 1990's.) The Australian high court disqualified the patent in 2013, saying you cannot patent something which is human genetic material. The firm didn't invent this gene. It was therefore the existence of the gene which led to the knowledge of it. In the phrase: "in a formal sense" it means as a formality, to be correct in a sense - that human action was indeed used to discover the gene. Researchers had in fact detected the gene. Next phrase: "it was the existence of the information stored in the relevant sequences that was an essential element of the invention as claimed". - the essential element (the important aspect) was the information they had learned, and how they went about discovering it.