GeneGnome
Up until now genomic studies have meant to me not much more than a gnome in jeans. So this post is to turn around some ignorance within as well as without. More school than escape. But worth a brush up. Obviously just a starting point, to get basic knowledge of how genes, cells and mutations work. A little science to balance the wacky mindfulness of the previous post.
Okay, class 101 on Genetics borrowed in part from cancer.org (for longer article go to: http://www.cancer.org/acs/groups/cid/documents/webcontent/002548-pdf.pdf) as well as a few other sites found along the way. Ignore and reabsorb the repetitions within:
Genetics is the field of science that looks at how traits (such as eye color, hair color, height, and likelihood of certain diseases) are passed down from parents to their children through genes.
Genes are pieces of DNA (deoxyribonucleic acid) inside each of our cells that instruct them how to make the proteins the body needs to function. DNA is the genetic “blueprint” found in each cell.
In humans, genes are located on 23 pairs of long strand DNA called chromosomes. One of each chromosome pair comes from the mother, and the other from the father. Each chromosome can contain thousands of genes that are passed from the parents to the child. The genes you were born with are in every cell in your body.
Changes to these genes, called mutations, play an important role in the development of cancer. Mutations can cause a cell to make (or not make) proteins that affect how it grows and divides into new cells. Certain mutations can cause cells to grow out of control (ergo tumor), which lead to cancer. Usually several gene changes are needed before a cell becomes cancer.
The 101 on Cells:
Cells are the basic building blocks of the body. All living things are made of cells. Complex animals such as humans have trillions of cells. Cells work together to form organs, such as the heart, liver, and skin. Cancer begins when genes in a cell become abnormal and the cell starts to grow and divide out of control.
A cell uses its genes selectively; it can turn on (or activate) the genes it needs at the right moment and turn off other genes that it doesn't need. Turning on some genes and turning off others is how a cell becomes specialized. Some genes stay active all the time to make proteins needed for basic cell functions. Others shut down when their job is finished and start again later if needed. If you have Lynch syndrome or some other gene deficiency, these policing genes just aren’t there to look after the malfunctioning cells.
It’s important to realize that gene mutations happen in our cells all the time. Usually, the genes within the cell detect the change and repairs it. If it can’t be repaired, the cell will get a signal telling it to die in a process called apoptosis. But if the cell doesn't die and the mutation is not repaired, it may lead to a person developing cancer. This is more likely if the mutation affects a gene involved with cell division or a gene that normally causes a defective cell to die.
Yes, genetics and molecular testing are how I learned about my Lynch Syndrome or as I like to say- hereditary nonpolyposis colorectal cancer (HNPCC) with Variations in the MLH1, MSH2, MSH6, PMS2, or EPCAM genes. Sounds cooler and more impossible that way. Anyhow, I’ve dipped my finger into the world of genetics, but only briefly. This brave new world of molecular and genetic profiling is way complicated, elastic and growing super fast. The great news is that soon these studies and tests will relegate chemo to where it belongs, into the basement of Ripley’s Believe It Or Not. And our decedents we will ogle in disbelief: Arsenic? Mercury? Bloodletting, Oxaliplatin?
To give you an idea of how archaic Chemo treatments are today, here’s a little fact I recently uncovered. According to multiple sources the guidelines for Chemo dosing my colon cancer (based on body surface area (BSA)) hasn’t changed since 1916. When only nine patients participated in one study derived by Eugene F. Du Bois. That officially gets tossed in the WTF file. I’ll repeat. When I go in for treatment they are basing my dosage of toxic of oxaliplatin and flourouracil (5FU) by my height and weight, who’s prescriptive origins are based on a 1916 study of nine patients. This is nuttier than an episode of Cinemax's The Knick.
But there’s hope in stages! Before total annihilation of chemo we’ll go through a pre animation phase called personalized chemo. Far better than what’s here now. The interweb is saturated with articles on personalized medicine, Metronomics, genetically targeted therapies, etc. If you are anyone you love is hit with a cancer diagnosis please do some research in this field and understand that there are ways to get the right medicine for that particular individual, based on absorption, distribution, metabolism, excretion, not just how tall you are and how much you weigh. But do your research. Many companies out there simply don’t have the experience and over promise. There are enough reputable places to get recommendations. I will list some once I complete my own due diligence.
Even now there are tests and procedures surfacing that will take a tumor, grow another fresh one then subject it to multiple treatments until the right one and proper dose amount is found. There are different methods for this including, among others, the human tumor colony-forming assay (HTCA), the succinate dehydrogenase inhibition (SDI) test, the fluorescent cytoprint assay, the adenosine triphosphate assay (ATP assay), Differential Staining and Cytotoxicity (DiSC) Assays, and the MTT assay. It is a bit more complicated than making cookies, but the live tissue cultures of the cancer can be used to personalize your treatment. Just know that something tested in a tube might not be the same in a body. That’s something to talk to your genetics counselor about.
As far as colorectal cancers are concerned there are stool and blood tests who’s mission is early detection beyond the colonoscopy. If you have a family history of colorectal or any other type of cancer its smart to become proactive. Save yourself from surgery and chemo down the line. If you don’t have a history, save yourself the drama, expense and worry of the “what if.” Its not necessary. Just find ways to live healthier in mind and body and do the checkups when you should do them (see :oscopy).
Below are a few examples of early testing companies that are as noninvasive as can be (thank you JJ for sending these to me!). Some are colon based, others do testing for multiple cancers.
http://www.exactsciences.com/solution
http://www.epigenomics.com/en/products-services.htmla
http://www.questdiagnostics.com/home.html
and here are a couple interesting articles on a new drug that seems to be getting a lot of attention in the colorectal circles. Sort of a pun in there somewhere…
Okay. Done with school for today. It's nearing the eve of America’s independence day so I' leaving you with a quote. My sis-in law Taash loved Rumi so I toast to her as well from the other side. I just wish you all true freedom from pain, hurt, envy, resentment and clustering cells. Until soon...
“Don't be satisfied with stories, how things have gone with others. Unfold your own myth.” ― Rumi