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hen it comes to cancer, all knowledge is power — even when that knowledge is scary. Knowing as much as you can about cancer lets you and your health care team act decisively in devising your treatment strategy. Even more important, it lets you act specifically in selecting treatments or clinical trials that might be best in treating your disease.

Advances in genomics and molecular biology have revealed that cancer is surprisingly, shockingly diverse — so much so that we no longer view most cancers as one disease, even those that begin in the same organ or tissue. For example, there are at least 12 subtypes of multiple myeloma, the rare cancer that I have. Each one can be defined by a complex interplay of genetic mutations and other molecular abnormalities, some of which are shared with cancers that originate elsewhere in the body.

For me, learning everything about my disease has been essential to discovering how to attack and treat my cancer and, I believe, why I went into a surprising but welcome long-lasting remission.

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Know your disease

I first had my bone marrow analyzed in 1996, shortly after I was diagnosed with multiple myeloma. The procedure used, fluorescence in situ hybridization (FISH), was the gold standard test at the time to detect certain mutations that might shed light on my prognosis and treatment. It showed I had a type of genetic mutation called t(4;14). It meant that parts of two different chromosomes had switched places.

I will never forget how terrified, how heartbroken I felt when I learned that t(4;14) meant that my already fatal disease was of a particularly aggressive subtype. My remissions would be short, my relapses frequent.

But as I sat with that devastating news, a new drug called Velcade was in development that would change my fate. In spite of, or perhaps because of, our t(4;14) status, individuals like me tend to respond well to Velcade — so well that it can help overcome the dismal prognosis conferred by this mutation. Fortunately, with the appropriate treatment, here I am, living life to the fullest 20 years after being diagnosed with a cancer that my doctors thought would kill me in three to four years.

My personal experience reveals just how complex cancer truly is and the powerful role patients can play in contributing to our understanding of cancer. Today, in addition to FISH and other tests like gene expression profiling, a growing number of patients are having their tumors sequenced. This involves comparing your healthy DNA with your cancer’s DNA. This can pinpoint genetic mutations that give rise to the disease and helps guide treatment of an ever-growing number of cancers.

Some cancer centers already routinely sequence all patients with cancer. Others sequence patients with cancers that arise from well-understood mutations, such as melanoma or colon cancer, for which targeted drug therapies exist.

And it is increasingly common to do gene sequencing for patients with rare cancers, or those whose treatment options have run out, in the hopes that this genetic information can identify a known mutation for which an existing treatment is available — often one used for an entirely different form of cancer.

As we sequence and analyze many patient genomes, and learn from that knowledge, we will identify other genetic mutations and abnormalities that give rise to cancer and learn how they affect the treatment path. These predictive insights will benefit not just the individual, but all people with cancer.

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There’s no denying that patients may gain knowledge about their cancer that they wish they hadn’t. They might find out that their cancer is more aggressive than blood tests or imaging studies had led them and their doctors to believe. They might learn they are at greater risk of certain side effects or complications, or that some drugs just won’t work for them.

Still, as someone who has heard both good and bad news about my cancer genome, I would choose knowledge no matter what.

That’s why I urge all patients to have their cancer sequenced. If the technology isn’t available, have a sample of tumor tissue banked so it can be sequenced at a later date and, in the meantime, have the tumor analyzed by FISH or gene expression profiling, both of which are very accessible.

But don’t stop there. I strongly encourage patients to know the results of this testing. What is my disease sub-type? Am I at high risk? Knowing the answers to these questions may point to potentially lifesaving treatment strategies.

Build knowledge by sharing your data

Cancer patients can help build knowledge about this set of diseases by raising our hands for research. My organization, the Multiple Myeloma Research Foundation, conducted the CoMMpass Study. It sequenced the genomes of 1,000 patients with multiple myeloma and then linked that information to patients’ clinical history — what treatments worked for them, what didn’t — to uncover additional mutations associated with the disease.

CoMMpass unearthed a mutation in what’s called the BRAF gene that had never before been linked to myeloma. Most recently it discovered that there are further subtypes within the t(4;14) subtype. One of these appears to confer no worse prognosis than is associated with other subtypes, while another appears to be associated with an extremely fatal form of the disease.

As we continue to build upon our understanding of multiple myeloma, we take our ideas straight to the clinic, where patients can benefit from treatments that are tailored to the unique aspects of their cancer. Based on findings from the CoMMPass study, we’ve designed and launched clinical trials of drugs that target mutations in BRAF and in p53, a gene often associated with cancer. We also launched a trial specifically for patients with t(4;14) to pinpoint the characteristics — genomic and otherwise — that contribute to how well a person responds to therapy.

This kind of innovation cannot be done alone — nor should it. It requires the extensive analysis of a massive amount of patient data. This means that patients who are able to have their genomes sequenced should step up for research and share their data and other health information.

Myeloma patients can do that in our CoMMunity Gateway. There they can share as much or as little about their disease journey as they want, but can also connect with other patients like them and join clinical trials for their subtype as they become available. Other cancer-focused organizations offer similar resources.

To make sense of the data that are swelling into a flood, the global scientific community — in clinical medicine, academia, and the biotech and pharmaceutical industries — must work as a team. We must also reach across disciplines to create a diverse and powerful brain trust and build partnerships with diagnostic companies, who develop tests to screen for genetic changes, and insurance companies, who see the value in these diagnostics and are willing to pay for them.

While this work might not defeat cancer immediately, it paves the path for future innovation and potentially game-changing therapies.

Kathy Giusti is the founder of the Multiple Myeloma Research Foundation. She is also a senior fellow at Harvard Business School, where she serves as faculty co-chair of the school’s Kraft Precision Medicine Accelerator.

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  • I was diagnosed with mm 3 years ago never need treatment thank god. I just go to my mm specialist every 3 to 4 months and run my lab dr said as long my protein m don’t go up and blood test are average I don’t need treatment. My protein go up and down. I don’t know if I’m doing things the way it suppose to be. My pet was normal, my bone density is normal. The only thing is I get sick easily,like colds and flue.

  • I was just diagnosed with multiple myeloma they are running tests and I go back to the hematologist on Monday 3/19/17 to find out for sure. I am scared to death. I live just outside Chicago so I already made the choice to go to university of Chicago for treatment. I am hoping with all my heart I don’t have this deadly sickness but I still have to live my life as best as possible

  • Thank you for all the encouragment. I now tucked in with Dr Carol Anne Huff at JHH. Still working on a diagnosis but all things point to SMM right now. Amazing how much there is learn about MM. But truly knowledge is power. Thank you so much.

  • I have a DNA mutation that is associated with many types of cancers called SDHB (part of the Krebs Cycle and Complex II). I was born with the mutation. I knew to get DNA tested when I developed a rare type of tumor called GIST. My father and aunt had died of rare tumors called paraganglioma. My DNA mutation leads to GIST, paras/pheos, renal cell, pituitary, thyroid and pancreatic. I mentor others with my mutation and encourage them to learn as much as possible. Some GIST patients have the BRAF mutation. It can be overwhelming knowing you are “Stage IV” incurable and that no know treatment has yet to successful work on my type of cancer. I’ve had to learn to accept what I cannot change BUT I’ve learned to attempt to change what I cannot accept. Thus I too have put up a website to educate others who are often misdiagnosed as both my father and I were. http://www.SDHcancer.org

  • Great piece. Thank you. If reduce my M’Protein from 4.0 to .80. So 80 remission. Diagnosed in September 2016 with 3rd stage MM. Reduction was attributed to Velxade, Dexametjasone and cyclophamide once a week for 6 cycles. Considering autologous Bone Marrow Transplant at Stanford. Can I call you sometime?

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