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Not All Cases as Clear as Jolie's

Although the recent news about actress Angelina Jolie's decision to opt for mastectomy based on her BRCA1 status might suggest to the public that genomic testing will enable many people to make similar, well-informed decisions, science journalist David Ewing Duncan says that his family's experience shows that there is a long way to go before most people can make such knowledgeable choices.

Writing in Salon, Duncan says that his 19-year old daughter took genetics tests from Myriad Genetics and DeCode Genetics and her results came back negative for the BRCA1 mutation. However, Duncan's family has a history with breast cancer, and although her BRCA status was cause for optimism, that mutation only accounts for a small number of breast cancers.

Duncan is a believer in genomics and the potential of gene-based medicine. He had his own genome sequenced in 2011, and ordered some gene tests for his parents, who are in their 70s.

"My daughter, who seems to suffer from the same curiosity gene―as yet unidentified―as I do, insisted that she be tested alongside my parents and me as part of what became a family exploration to investigate three generations of one family’s genetics," he explains.

"As a father, I didn’t like this idea at all," he writes. "What if we found something amiss in Danielle’s genome, especially something we could do nothing about?"

After the results from the Myriad test came back negative, he says, Danielle tested positive for other markers that are implicated in breast and ovarian cancers; markers associated with mutations that may contribute to disease risk and chances for survival.

He notes that this "genetic ambiguity" comes ten years after the completion of the Human Genome Project, and says it shows how the realization of the promise of personalized medicine is still a ways down the road.

"For now, my family waits in limbo between genetics’ early promise and a future when more people will get results that matter, like Jolie did."

The Scan

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