UC Berkeley and 2 other institutions awarded $4.5 million to study genetic testing

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UC Berkeley and two other Bay Area medical research institutions were collectively awarded a $4.5 million grant from the National Institutes of Health on Wednesday to study ways to advance prenatal health care through genetic testing.

The grant is part of a larger NIH initiative, the Genomic Sequencing and Newborn Screening Disorders research program, to test whether genetic sequencing is superior to current practices of newborn screening, as well as whether it is ethical. A total of $25 million will fund the initiative over the five-year period.

Three other institutions across the nation have also been awarded grants by the NIH to participate in the same initiative.

According to Robert Nussbaum, a professor at UCSF who is leading the team from the Bay Area, five years will be spent studying genetic sequencing over the course of three projects. The projects include testing the effectiveness of genetic sequencing, analyzing disorders that could be prevented by newborn screening and scrutinizing the legal and ethical framework of genetic sequencing.

Researchers will sequence the genes of 1,400 newborns to study how the method compares with current forms of newborn testing, which involve taking blood spots and examining them using biochemical methods.

According to Nussbaum, a classic example of a disease that can be prevented using genetic sequencing is malignant hyperthermia, a hereditary condition that triggers high fever and extreme muscle contraction upon exposure to general anesthesia. Nussbaum said that with genetic sequencing, early detection of the disease is possible to prevent future complications.

According to Diane Tober, associate executive director of the Center for Genetics and Society in the city of Berkeley, however, there are many ethical concerns regarding genetic sequencing.

Tober noted that some diseases found through genetic sequencing may not actually happen to the child when he or she grows up and that sequencing may create privacy concerns.

“It’s a whole line of thinking that people haven’t thought of yet,” Tober said. “What is going to be done with the information, who has access and what does privacy mean when you can have your genetic information taken as an infant?”

Despite these ethical concerns, researchers are continuing with the project. According to Jennifer Puck, a professor of pediatrics at UCSF and one of the researchers for the study, every family in the study volunteered and will be asked its opinion on genetic sequencing.

“We’re going to be very careful and keep things private,” Puck said. “We’re going to inquire and ask for the range of opinion.”

Contact Lydia Tuan at [email protected].

A previous version of this article included a quote stating that malignant hyperthermia will lead to a low IQ if left untreated. In fact, that comment was in reference to phenylketonuria.