The Burden of Knowing – Genetic Sequencing and what you might find out

This author found out she had the BRCA1 mutation from an early study where she had participated and was counseled on what she might look in to for her future lifestyle and options for early testing, i.e. mammograms at at 30, etc. She dropped out of the study and years later is diagnosed with breast cancer.

So now faced with having the information earlier in life, would this have changed her lifestyle, decisions to have children, and other matters.

“People make decisions, Church said, and live with the consequences. But those consequences become our lives, and we end up becoming the decisions we make. We can never know what we would be like had we chosen differently. We can only imagine. Sometimes even that is difficult to do.”

Now, many of her relatives have taken action as a result of what has occurred and she does a very good job in covering many issues that we would all question, what do we do with this information and how is it going to change my life, very well written and worth the read. BD

For the right fee, a Cambridge ﬁrm called Knome will unravel all the secrets hiding in your genes. But what happens when those secrets include a higher risk of getting cancer? Or of contracting a crippling disease like Alzheimer's? Would you be able to handle that information and the terrible choices it forces? I wasn't.

The man responsible for Knome and the services it offers—services that will fundamentally alter the way we think about healthcare—is George Church, a 6-foot-5, bushy-bearded Harvard Medical School professor and the patriarch of personal genomics.

Not everyone is greeting the revolution with outstretched arms. A chorus of doctors, ethicists, and even some of Church's fellow geneticists say that personal genomics is a wildly unregulated and woefully immature field, one in which science's ability to read genes, and Madison Avenue's ability to hawk its tests, is eons ahead of medicine's understanding of the results. When doctors do understand them, there is often no preventive measure consumers can take to head off their fate, if that fate is a disease like Alzheimer's or Huntington's. There's also the fear that personal genomics may not only one day customize medicine to our genes, but also custom-design our children. The question for people who oppose Church is whether this world of his is any place for the rest of us.

When I was 25, in 1997—ancient history in the world of genomics—I was invited to have one of my genes sequenced as part of a Dana-Farber Cancer Institute study. The gene in question is known as BRCA1; a mutation on that gene means a woman has, on average, a 60 to 80 percent greater chance of getting an aggressive form of breast cancer, and a 40 percent chance of developing ovarian cancer. My aunt tested positive for the BRCA1 gene mutation after she got breast cancer, but before she died of ovarian cancer. It's a mutation she likely got from my grandmother, who died of breast cancer. It's a mutation doctors assumed led to the ovarian cancer that killed my mother, when she was 33 and I was five.

While I waited for all these results, I read a magazine, worried only about being late for dinner. Then the surgeon came into the waiting room, sat herself on the couch beside me, and informed me I had cancer. She took me to meet with another, more senior surgeon. He told me I could go through chemotherapy while pregnant, but it would be a lot "simpler" if I terminated the pregnancy.