Approximately 350 million people worldwide face the life-changing impacts of a rare disease. The sheer number of people affected begs the question: are rare diseases really that rare? According to Jussi Paananen, Chief Technology Officer at Blueprint Genetics, perhaps the only thing rare about them is how difficult they are to diagnose: “it’s like finding a needle in a haystack.”
Blueprint Genetics wants the process of diagnosing and understanding rare diseases to be more efficient and less challenging for patients. The global clinical diagnostics company focuses on rare disease genetics and offers single gene tests, panels, and whole exome sequencing in 14 medical specialties, including cardiology, ophthalmology, immunology, hereditary cancer, and malformations, to name a few. The result of Blueprint’s end-to-end testing operation is an easy-to-understand clinical report that physicians can share with their patients.
There’s been a notable surge in rare disease activity over the last few years, driven by reduced sequencing costs and several public sector initiatives that have increased our understanding. Blueprint experienced firsthand this surge and had to scale its operations rapidly to meet demand. When Paananen’s team added an Illumina NovaSeq™ 6000 system to its operations, the volume of samples increased, and so did the amount of data for each sample. By partnering with DNAnexus, Blueprint Genetics was able to scale in velocity and volume by moving its bioinformatics pipelines to the cloud.
After samples are sequenced on the NovaSeq system, the raw data now runs through Blueprint’s proprietary bioinformatics pipelines on DNAnexus, which produces pre-processed variants that the in-house geneticists interpret and use as the basis for final clinical reports.
According to Paananen, they’ve been able to scale to the increased demand so that it’s no longer the sequencing and bioinformatics that are a bottleneck — it’s the interpretation. But Blueprint has a solution for this challenge as well: augmented intelligence. Augmented intelligence, in which human expertise remains at the center of decision making with help from computer counterparts, will enable geneticists at Blueprint to automate as much as possible to increase interpretation speed and quality.
1.Austin CP, Cutillo CM, Lau LPL, et al. Future of Rare Diseases Research 2017-2027: An IRDiRC Perspective. Clinical and translational science. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5759721/. Published January 2018. Accessed October 1, 2019.