In 2008, my 19-year-old daughter, Danielle, took the same type of DNA test for breast and ovarian cancer that actress Angelina Jolie took recently.

Jolie, 38, came out positive and opted for a preventive double mastectomy to dramatically reduce her risk of breast cancer, a too-often-lethal disease. She based her decision on a telltale pattern of mutations in the BRCA1 gene and a family history of breast cancer that claimed her aunt at age 61 and ovarian cancer that took her mothers life at 56.

The actress was told she had an 87 percent chance of developing breast cancer and a 50 percent chance of getting ovarian cancer, because of her particularly potent combination of family-illness history and genetics. This risk assessment, however, offered a level of genetic certainty for Jolie that is regrettably rare for most healthy people wanting to know if they have an elevated predisposition for a common disease like breast cancer. Only a few thousand breast-cancer patients in the United States share Jolies specific genetic mutations. The rest of the more than 230,000 cases annually diagnosed nationwide are caused by different genes or by other factors that cannot be as accurately predicted.

Danielle was tested for this unusual genetic signature in BRCA1 as part of a project I initiated over a decade ago as a journalist writing about genetics. At the time the $3 billion Human Genome Project was nearing completion, and hype about how the science of genomics would revolutionize medicine, allowing researchers to tailor drugs to specific diseases, made headlines. Pharmaceutical and biotech companies dreamed of big profits in personalized medicine, and ethicists worried about how people would react to their prospective risks to diseases and face the sort of difficult choices that Jolie did.

To better understand the complexities of DNA and wanting to humanize what could be eye-glazing science for non-geneticists, I had sections of my own DNA decoded first for a story published inWiredin 2002, and later for other stories and a book. My personal DNA odyssey culminated in 2011 when I got the entirety of my genome sequencedall six billion As, Ts, Cs and Gs. The idea was to see what this information could tell a healthy person about his or her future. My daughter, who seems to suffer from the same curiosity geneas yet unidentifiedas 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 familys genetics.

As a father, I didnt like this idea at all. Testing myself and my parents, was one thing. They were in their late 70s and quite healthy, as I was in my 40s. This suggested that we didnt have anything dreadful in our DNA. But my daughter was a different case. Our family has a history of breast and ovarian cancers. My paternal grandmother survived breast cancer in her 50s and died of ovarian cancer at 86. I also knew from my previous testing that I am a carrier of gene markers other than BRCA1 that are associated with breast and ovarian cancers, as is my father, even though as males we had no risk of getting ovarian cancer, and a very low risk for breast cancer.

What if we found something amiss in Danielles genome, especially something we could do nothing about? Its bad enough to discover that you have a high chance of developing a disease without a cure, like Alzheimers, when youve had a long life behind you. Its quite another to receive information that casts a shadow over your future when youre young.

Another fear was that we would find out something that required us to make a difficult decision. Jolie faced the wrenching choice of either living with an 87 percent certainty of getting breast cancer in the future or removing her healthy breasts now. We were all anxious about the possibility of having to choose to pay a terrible price if we found out Danielle was at high risk for getting cancer or another serious disease.

I held my breath and ordered a scan of hundreds of thousands of Danielles genetic markers through a DNA testing company based in Iceland called deCODE Geneticswhich has since ceased offering this service. In addition, I ordered from Utah-based Myriad Genetics an earlier version of the BRCA1 test that was later taken by Jolie.

Thankfully, my daughters results on the Myriad test were negative, although this ruled out only one rare possibility that she might get these dreadful diseases. Later, Danielle did test positive for other DNA markers implicated in breast and ovarian cancersmarkers associated with several gene mutations that can contribute to a persons disease risks and chances for survival.

Link:
My family’s decade in genetic limbo

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