Friday, June 8, 2012

Old Puzzles, Busy Guys and New Science

Elaine Waples
I am a two year cancer survivor, in remission, feeling good, and focusing on a quality of life that I perhaps took all too much for granted in the past. But like all cancer survivors, I worry about what may be happening inside my body where mutant cells and dormant micro-tumors might be taking up their opportunistic work again. I try not to dwell on it, but there is the ever-present question about what to do if there is a recurrence.
My husband and I have learned that cancers – even cancers with the same name – behave differently before and after treatment. While our doctors help us through the storms of illness, it is unreasonable to expect them to constantly research all possibilities in a world of head-spinning new science.
The good news is that today amazing technology can help understand more about the disease. A revolutionary capability called molecular profiling can answer questions about cancer treatment that have frustrated us for decades. This innovative science is giving me a second, very different look at my primary peritoneal (ovarian) cancer tumors.
I have to start where it all begins: with our DNA, an ancient blueprint made up of chemical bases. C’s, G’s, A’s and T’s, spiraling in perfectly organized pairs, although probably not as colorfully as the mesmerizing YouTube images. DNA’s biological information tells us where we come from and pretty much where we may be going.  We need it to develop, survive and reproduce. It is the basis for all organisms, though it’s sobering to think that we may be just an alphabetical rearrangement away from a tomato plant or a virus.
DNA is busy stuff. It splits in two, replicates and converts into messages that produce workhorse proteins. Of course this is an oversimplification of the complex processes that take place in our bodies. There are genes, cells, molecules and a host of other active components that keep the engines stoked, control our health, grow new tissue and occasionally produce great-grandma’s red hair two generations later.
The human genome is the sum total of all of it.  In a 2005 TED talk, the renowned geneticist Dr.James Watson explains the beautiful evolution of his DNA work, the human genome, and where he hopes it will take us in the future.
But now and then DNA plays with the rules and throws us a curve. Sometimes it just drops or swaps a smidgeon of the millions of orderly pairs, and this tiny blip causes cells to turn on, turn off, mutate or begin non-stop replication. The results are diseases like cancer, autism, multiple sclerosis and schizophrenia.
Thanks to human genome mapping, we are beginning to learn more about this puzzle. It is still new science, but one day we will have the ability to learn how our own cells, proteins, and molecules actually determine our health. Terms like mutation, over-expression, oncogenes, apoptosis and amplification will be routine parts of our conversation, providing highly personalized looks at why we have a certain disease or why it behaves very differently from our neighbor’s.
But today, while the possibilities are enormous, so are the masses of information that increase with every genomic study and subsequent clinical trial. Most of us need help accessing, sorting, and evaluating the needle-in-the-haystack of information relevant to our individual health. It is no small task.
To accomplish this we hired an organization called N-of-One. The name refers to a statistical sample of one patient, which means that N-of-One’s focus is on the individual. Their first step tackles the drivers of tumor growth – the molecular biology of a specific cancer.  Then they ask questions: are there misfires in the protein messages; are there gene mutations or cells that are multiplying too fast; what could cause systems that worked harmoniously for decades to suddenly betray us?
Here’s why we believe this is important.
Cancer care decisions often contemplate going far beyond conventional treatment. My very honest oncologist once referred to chemotherapy as “dropping cement blocks” on the patient’s head. Although it is what we know how to do, we also know it is far from perfect. A one-size-fits-all treatment plan may not be as effective as one that targets the cancer’s specific characteristics.  An explosion of cancer research is proving that there may be other, more effective ways to treat the disease. With the right kind of information, patients and their physicians have choices and can make informed decisions.
N-of-One provides a series of personalized reports- based on assays, and research on clinical trials, advanced treatment strategies and new drugs – that advise and inform us. Their clinical research team explains why each piece of information – the letters, numbers, and links – is important. The results help us understand what could work and why.  It also helps us to avoid what can’t work.
There are no promises or guarantees. Science changes from day to day and the genomic work is massive and daunting.  But I like having N-of-One as a traffic controller, ombudsman and skilled advisor.  They don’t give me a diagnosis or tell me what to do. It’s about science and knowledge. And they respect my relationship with my doctor as we work through our choices.
Curiously, for the first time, I feel like I have a vision of what my genome might be up to. Busy little guys switching signals, throwing flags on plays, recreating themselves in wild abandon, or refusing the do the work they are assigned to do. Maybe, just like my iPad in auto-correct mode, they are simply altering the messages, creating confusing garble which the cells pick up and start something I wish they wouldn’t.
It’s not scientific but it is an image that works for me.

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