Quest and Broad partner for infant whole genome sequencing research

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Quest Diagnostics and Broad Clinical Labs have announced a research collaboration exploring whole genome sequencing (WGS) of infants as a first-line genetic test for diagnosis of developmental delay disorders.

This postnatal WGS research involves both phenotypic and genotypic data sharing with the goal of demonstrating the clinical value of WGS in comparison to standard chromosomal microarray (CMA) genetic testing, according to Quest.

"This type of collaboration between commercial laboratories and research institutions is vital to advance the field of genetic testing and increase utility and economic value," stated Dr. Heidi Rehm in the announcement. Rehm is medical director of Broad Clinical Labs and chief genomics officer at Massachusetts General Hospital. The research will also enhance interpretation of genomic tests and understanding of development delay.

"Now that the $100 genome is moving closer to reality, it's time to reconsider the way genetic testing is utilized and reimbursed," added Quest Diagnostics Molecular Genomics and Oncology senior vice president Mark Gardner. With the research effort, Quest and Broad are exploring the potential of postnatal WGS to replace the conventional testing model, Quest said.

For the collaboration with Broad, Quest said it will provide deidentified data, including phenotypic data (a person's observable traits), and blood, saliva, and buccal swab specimens it has tested for developmental delays using CMA and other tests. Broad will then perform WGS on the deidentified specimens to determine concordance between the methods.

"The collaboration will also explore the potential of WGS to provide answers for fragile X syndrome," Quest said. "Unlike CMA or exome sequencing, WGS can rule out fragile X as a cause of developmental delay and signal the need for additional confirmatory testing in those whose results suggest it as a possible cause of developmental delay."

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