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UCSF receives $4.5M to study value of gene sequencing in newborns
Date:9/5/2013

k the immune cells known as T lymphocytes, which are missing in SCID. This new project will enable the team to assess whether exome sequencing works as well or better than the current test in identifying SCID, as well as other immune system abnormalities that the current test does not cover. Exome sequencing may also give parents information on the genetic basis of their childs disease.

Although new tests can benefit affected infants, extra tests cost money and will have false positives in some patients that cause both anxiety for parents and extra testing for the child, Puck said. The question in this grant is whether we could look at the DNA and see whether its more accurate in testing for these diseases. Thats the promise of genomic technology, but putting it into practice may not be so easy.

The third arm of the project will offer parents genetic testing for newborns at the UCSF Benioff Childrens Hospital to assess whether the child is likely to have adverse reactions to medications based on their genetics an area known as pharmacogenomics. That portion will be conducted in conjunction with renowned UCSF ethicist Barbara Koenig, PhD, who will be studying parents attitudes regarding testing children beyond what is currently offered in newborn screening.

While the first two projects are mainly looking at whether genetic testing would be more accurate, specific and useful than current methods, this third element assesses how willing parents are to get genetic information about their child that may be useful later in life, but not right away.

So far, newborn screening programs have not been directed towards just letting people know about a possible disease risk. There has to be a high probability of serious illness that can be prevented with early intervention, Nussbaum said. P
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Contact: Kristen Bole
kristen.bole@ucsf.edu
415-502-6397
University of California - San Francisco
Source:Eurekalert

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