Genome sequencing highlights risks of diseases

By Erinn Hutkin, Special to U-T San Diego 6 a.m.Feb. 4, 2014

Last year, actress and activist Angelina Jolie made headlines when she wrote an op-ed piece for the New York Times about why she chose to have a double mastectomy after undergoing a $3,000 genetic test showing she inherited faulty versions of the BRCA1 gene.

Her mother died of breast cancer at a relatively young age, and the test was an indicator that Jolie had a high risk of developing breast cancer in her lifetime.

Its just one example of how technology has allowed many people both high-profile and everyday Joes to learn more about their risks of developing genetic diseases through genome sequencing.

Sequencing is a laboratory process that uses a sample of a persons blood to help determine the DNA sequence of their genomes. DNA is passed down from a persons parents, and the testing can spot abnormalities or disorders that point to a high risk of developing certain genetic diseases, such as breast cancer, or rare disorders, such as Huntingtons disease.

The testing can be used to help doctors pinpoint the causes of certain disorders. It can also be used for cancer patients to make treatment more targeted and specific.

It does have an impact in helping doctors and patients make better decisions about their choices, said Dr. Mark Erlander, chief scientific officer at San Diego-based Trovagene Inc.

In the clinical world, he said, there are two main ways that sequencing is used.

The first is called germ-line sequencing, which he said is done to try to understand if a person is predisposed to certain diseases or disorders Alzheimers, for instance or the BRCA gene thats been linked to breast cancer.

When doing the sequencing, whats being looked for is an association or links, he said. He said this type of testing is typically done on people who are healthy but want to see if the risk of developing a certain disease is elevated.

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Genome sequencing highlights risks of diseases