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Pacific Biosciences, GeneDx, Google Health Partner With New York Center for Rare Diseases

NEW YORK – The New York Center for Rare Diseases (NYCRD) at Montefiore said on Wednesday that it is partnering with GeneDx, Pacific Biosciences, and Google Health on genetic diagnoses for families in the Bronx living with rare diseases.

A pilot project will perform genomic testing on 50 patient-parent trios to see if PacBio's long-read sequencing can identify genetic alterations. In addition to analyzing these genomes with PacBio's HiFi DNA and RNA sequencing, GeneDx will perform short-read whole-genome sequencing. The genomic data will be returned to Albert Einstein College of Medicine for analysis.

Google Health is partnering with the NYCRD to develop analytical tools using Google's DeepVariant and DeepConsensus tools.

Financial and other details were not disclosed.

"To date, genetic sequencing has mostly been conducted on people from European ancestry, neglecting the racial and ethnic groups that represent the majority of our Bronx patients," John Greally, codirector of the NYCRD at Montefiore, said in a statement. "By performing these new, advanced genomic sequencing studies on Bronx patients who have given permission for their DNA to be used in research, we will deliver answers to these families, learn how best to perform genomic studies, and optimize the care for people impacted by these rare diseases."

NYCRD follows the University of Washington in partnering with GeneDx and PacBio on rare disease sequencing with long reads.