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Blueprint Genetics to Analyze Biobank Samples for Rare Diseases in New Finnish Study

NEW YORK – Quest Diagnostics subsidiary Blueprint Genetics said on Thursday that it has partnered with the Helsinki Biobank and Helsinki University Hospital for a research initiative called Rare3k that aims to develop algorithms to accelerate the identification of patients who could benefit from genetic testing for certain rare diseases.

Funded by Blueprint, Business Finland, and pharma partners including Pfizer, the study plans to identify 3,000 individuals from the 100,000-patient biobank who have a clinical suspicion or a diagnosis of Wilson’s disease, achondroplasia and hypochondroplasia, transthyretin amyloidosis, or inherited retinal dystrophies.

According to Blueprint, the choice to focus on these conditions was based on the existence of targeted therapy development programs in the pharmaceutical space.

Study investigators hope to develop algorithms for searching electronic medical records for individuals who would be likely to receive a molecular diagnosis with genetic testing. The goal is to recruit 3,000 of these patients for clinical-grade exome sequencing and clinical interpretation.

"Our focus is to find new ways to identify individuals with clinical features suggesting a rare disease, helping to remove barriers in the identification of patients who would benefit from genetic diagnostics," Olli Carpén, director of the Helsinki Biobank, said in a statement.

"As technology develops, machine learning-based algorithms could be a game changer in the way genetic testing is targeted to individuals in hospital databases [and] … we look forward to expanding this concept to other rare inherited diseases in the next phases of the study," added Samuel Myllykangas, Blueprint Genetics' executive director of strategy.

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