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B.C. invests $34 million in genomics research

Some of the funding will be used in a project to help speed up the time it takes for doctors to accurately diagnosis babies born with some genetic disorders.

B.C. Health Minister Terry Lake, left, talks to obstetrician Dr. Jan Christilaw, VP of provincial women’s and newborn health for the Provincial Health Services Authority after a news conference Tuesday announcing funding for genomics research that can help speed up diagnosis of genetic disorders in newborns.

Thandi Fletcher/Metro

B.C. Health Minister Terry Lake, left, talks to obstetrician Dr. Jan Christilaw, VP of provincial women’s and newborn health for the Provincial Health Services Authority after a news conference Tuesday announcing funding for genomics research that can help speed up diagnosis of genetic disorders in newborns.

The B.C. government has announced $34 million in funding for genomics research, including a project that could help speed up the time it takes for doctors to accurately diagnosis babies born with some genetic disorders.

Health Minister Terry Lake announced the funding Tuesday at B.C. Women’s Hospital, where the funding will benefit RAPIDOMICS, a $400,000 pilot project led by research organization Genome BC that aims to introduce the use of rapid exome sequencing in the neonatal intensive care unit to help doctors quickly diagnose babies with genetic disorders, like neurological problems and malformations.

Rapid exome sequencing, a technique for sequencing the protein-coding genes in a genome, can allow doctors to receive lab results for genetic testing within five to seven days— a process that would typically take weeks or months.

“The RAPIDOMICS project is one that I think all of us can really associate with as parents,” Lake told reporters at a news conference. “You can imagine being a parent in the neonatal intensive care with … something serious going on. What used to take weeks may take five days with this kind of investment.”

Currently, rapid exome sequencing is not routinely available in B.C. Genome BC hopes the pilot project will help evaluate whether the technology should be expanded to help sick babies in other hospitals.

Dr. Jan Christilaw, an obstetrician and VP for provincial women’s and newborn health at the Provincial Health Services Authority, said neurological disorders are among the leading causes of infant mortality in B.C. and around the world.

“If we didn’t have this type of technology available, these are the types of babies that might require five or six CT scans, five or six MRIS … to try to get the same diagnosis, that we can now do … with a single drop of blood,” she said. It’s pretty amazing to think about how far that takes us down the road.”

The province’s funding will also support other Genome BC projects including cancer research in hereditary and childhood cancer, and infectious disease projects on HIV, tuberculosis, hepatitis C and Avian flu. 

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