When to Consider Multigene Panel Testing

By Andrea Peirce,

Thursday, April 23, 2015

Multigene panel testing

The genes we’re born with may increase our risk for cancer. A new technology called multigene panel testing simultaneously examines a number of different genes to look for potentially cancer-causing mutations, which can provide information to help people take action to prevent or stop cancer. Not every change detected by multigene panel testing is clearly understood, though, and testing is most appropriate for a small subset of people.

  • Multigene panel testing simultaneously examines many genes.
  • The test is for people who are genetically predisposed to cancer.
  • Knowing about risk can help you take action.
  • However, not all inherited risks have clear treatment solutions.

Doctors and researchers have established that the genes we are born with may increase our risk of developing certain types of cancer. For some people, becoming aware that they carry a cancer-causing genetic mutation may spur them to take preventive action. Women with BRCA1 and BRCA2 mutations may pursue surgery to help prevent breast cancer, for example.

Now, with the introduction of a technology called multigene panel testing, people can learn about not just one but many inherited mutations at once. One vial of blood can shed light on a spectrum of predisposition and risk.

We recently sat down with Mark Robson, Clinic Director of Memorial Sloan Kettering ’s Clinical Genetics Service, to ask him about who might benefit from this type of testing — and in what ways — as well as the pros and cons of pursuing this cutting-edge technology.

How does multigene panel testing work?

For years, doctors and researchers looked at the inheritance of one potentially cancer-causing mutation at a time. This meant that we sometimes missed the chance to identify mutations in a person who could have benefited from more insight into their risk for cancer. The process of looking for additional genes was time-consuming and expensive.

The multigene — also called multiplex — technology introduced in the United States in 2013 changed this scenario by enabling us to simultaneously examine dozens of cancer genes at a cost that is comparable to that of tests for individual genes.

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Who might consider undergoing this testing?

While everyone has some risk of developing cancer, a small percentage of the population [no more than 5 to 10 percent] are genetically predisposed — and therefore at higher risk than the general public — to developing certain types of cancer because they’ve been born with DNA mutations that they inherited from their parents. These people and their families tend to have multiple cancers diagnosed at unusually young ages, and might benefit from knowing about the spectrum of their risk for the more than 50 hereditary cancer syndromes identified to date.

Multigene genetic testing looks for inherited mutations in a number of different genes, including ones associated with an increased risk of hereditary colorectal cancers, breast cancer, hereditary diffuse gastric cancer, uterine cancer, Li-Fraumeni syndrome, the childhood disease Fanconi’s anemia, and more.

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What action can people take using what they learn from multigene panel testing?

Because many factors will affect whether you actually develop cancer, it’s important that a genetics counselor or other professional who specializes in hereditary cancer and cancer risk assessment help you figure out if you should get tested and how to interpret the findings.

Knowing more about potentially cancer-causing genes can, in some cases, give you and your family members a chance to do something to prevent or stop a cancer, if such measures are available. In many cases, however, next steps aren’t so clear, and the best treatment options aren’t known.

A drawback to multigene panel testing is that we don’t yet have enough information to guide people in prevention strategies for several of the genes tested. In other words, you may get information about having inherited a cancer risk that we don’t understand well or for which we don’t have any treatment strategies to offer. Or you may learn about genes of emerging risk, or variants of undetermined significance, for which we currently can’t offer a clear path or solution.

Information can be highly ambiguous, with no clear course of action for you to take. That’s why it’s essential that a genetics counselor work with you to interpret the results and explain all your options so you can make an informed choice.

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What’s next in genetic testing for cancer?

In addition to learning about individual propensity and risk for various cancers, results from multigene panel testing have the potential to greatly expand our understanding of cancer if we put all the data in one place. In 2014, some of the commercial laboratories offering the test teamed up with experts from MSK and other academic medical centers to build the Prospective Registry of MultiPlex Testing (PROMPT).

This registry consolidates data in an exciting new way. Individuals and families who’ve been tested for inherited cancer-causing genetic mutations or genetic variants of uncertain significance can volunteer information — anonymously if they wish — about their results through this online portal.

By contributing altruistically to science, people might benefit not only themselves but also future generations.

Through this type of collaboration, we move scientists and researchers out of isolation and make it possible to quickly let people know about new or upcoming clinical trials and testing that might be of benefit to them — at the same time that we work toward new standards of care applicable to millions with hereditary cancers.

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Hi my parents died of cancer and I'm 56 so far I'm in good health . My doctor tell me , I go to my yearly physicals !! I try not to think about cancer also if so that's life ! Great blog thought thank you Annette spencer .

Dr. Robson is the best !

My mother (age 67) died of Acute Myloblastic Leukemia, as did her nephew (age 44) in Ireland.
My younger sister at age 23, at Sloan in 1959, had Hodgkin's Disease and had radiation to the Lymph nodes. Later had Gall bladder problems and the Lymph nodes were enlarged and so more radiation. This happened twice and they then removed the Gallbladder .. Had 3 pregnancies lost two babies and one survived .. Each time the Hodgkin's reared it's ugly head and more radiation. Later skin cancer treated and OK. Vaginal cancer in the right Bartolin gland resulting in a radical vaginectomy and more radiation. Two years later a double mastectomy, which was a result of the early (age 23) radiation, according to the Drs at UVA)
My youngest sisters daughter had breast cancer and radical removal of lymph nodes and chemotherapy with a now more than successful 5 year span .
....Should I or other members of my family have this test to see if we are susceptible to cancer. I am now 80 years old and while no cancer to date have had Renal Artery Stenosis kidney disease with the loss of one kidney .. Appreciate all remarks.

MaryPat, thank you for sharing your story. Some of the younger members of your family may want to consider a visit to a genetic counselor. To make an appointment with MSK's Clinical Genetics Service, they can call 646-888-4050. For more information, you can go to http://www.mskcc.org/cancer-care/hereditary-genetics.

This extremely helpful to me

My questions/concerns relate to genetic testing for pancreas cancer. My mom and her sister both died at age 71 from pancreatic cancer. 10 yrs prior, my mom had breast cancer. My maternal grandmother had pernicious anemia and then what was described as "stomach" cancer. She died (of a massive stroke) about 50 years ago so I doubt her cancer diagnosis was very specific or accurate. My dad died of complications from Type 2 diabetes and multiple strokes. I am an only child and have no children so I have very few first degree relatives.
I am a Type 2 borderline diabetic, controlled by diet and Metformin. In June 2011, I had an EUS at a local hospital and was diagnosed with numerous pancreatic cysts/pseudocysts. I was asymptomatic but, because of family history and the onset of diabetes, I had insisted on the screening. Subsequent to the EUS, I have had several MRCPs at MSKCC. The diagnosis is numerous IPMNs thruout the pancreas. For almost the first 4 years, everything seemed to be very stable. About a year ago, there was some increase in size (but as of now, the largest is still only 1.3cm)....and most recently there is a change in how they are being described. An MRCP done this month has described them as tubular and communicating with the main duct. Prior MRCPs only referred to them as possible or probable branch or side branch IPMNs.
I am an Askenazi Jew and have had genetic testing for BRCA 1 & 2 at MSKCC. Because of my mom's history of breast and pancreas cancer, the expectation was that she likely had a BRCA 2 mutation. I do not have a BRCA mutation! My mom died in 1991 in Fla. MSKCC was able to locate tissue from a surgery she had about 50 years prior and I had it tested for the BRCA mutation. Surprisingly, she did not have a mutation either.
Until recently I had no family history for my dad's family. I lost contact with them nearly 40 years ago. I expected that there was no cancer in his family since neither his parents nor his siblings had cancer. However, I was wrong to assume this. I recently located a few of my cousins and was shocked to learn that in my generation a number of cousins died of breast cancer (onset before age 60), one cousin had breast and pancreas cancer, and one cousin's daughter has breast cancer. So, it seems to me that there is a genetic component to all this bad news or possibly an environmental one since all of the cancers except one (my Mom' sister) were in family members who lived within less than a 2 block area.
I know there is little or nothing that can be done for me. If my cysts/IPMNs are or become cancer, because they are thruout the pancreas, I was advised that my only option was the complete removal of my pancreas, a difficult surgery that would leave me with no quality of life...........So, my questions are these:
1) Are there any genetic tests that I should have that could let me know if my risk of pancreas cancer is just based on my medical condition or if there is an additional risk based on my family history/genetics?
2) Are there any genetic tests that I should have that would provide valuable info to my family, or are there tests that they should have?
Thank you.

Dear Diane,

Thanks so much for your question. There are definitely some genetic factors that do play in a role in the development of pancreatic cancer aside from mutations in the BRCA genes. You can learn more here (look for the info under "Genetic Factors" as well as "Family History"): https://www.mskcc.org/cancer-care/types/pancreatic/about-pancreatic.

Since you're interested in learning more about your risk for cancer, you or your family members may want to consider genetic counseling or testing, and you can learn more here: https://www.mskcc.org/cancer-care/risk-assessment-screening/hereditary-….

Thanks for reaching out!

My parents both died of Cancer. My Mother from Glilioblastoma and my Father from cancer of the Salivary Glands. Is it known whether either of these are genetic?

Dear Cheryl,

Thanks so much for your question. With regard to glioblastoma, there are several rare genetic disorders that can increase a person's risk of getting a brain tumor. Environmental factors may also lead to certain types of brain tumors.You can read more here: https://www.mskcc.org/cancer-care/types/brain-tumors-primary/about-prim….

As for salivary gland tumors, according to head and neck surgeon Bhuvanesh Singh, in most cases salivary gland tumors are not connected to an inherited genetic mutation. There is a strong association between salivary gland tumors and radiation exposure, and a softer link to wood dust exposure. That said, there are a few inherited genetic mutations that can increase a person's risk (BRCA1, BRAC2, and RET).

If you're interested in learning more about your risk for cancer, and whether to consider genetic counseling and testing, here's some information you might find helpful: https://www.mskcc.org/cancer-care/risk-assessment-screening/hereditary-….

Thank you again, and we wish you all the best.

I had malignant melanoma at age 53, then invasive ductal carcinoma at age 58 - surgery, chemo, radiation. My daughter had invasive ductal carcinoma at age 42 - surgery, chemo, radiation. No BRCA mutation in either of us. My daughter's aunt had endometrial cancer at age 54. My son is 40. Should he be tested?

Is it possible for several cousins to have breast cancer that is not inherited? There is one common uncle (my father) who had prostrate cancer. Who would benefit from testing, myself or my children?
Thank you for this site.

Barbara, we are not able to comment on our blog about the likelihood that your family carries a particular gene. If you’d like to speak to someone in our Clinical Genetics Service, you can call 646-888-4050 or go to https://www.mskcc.org/cancer-care/risk-assessment-screening/hereditary-… for more information. If you’re not in the NYC area, we recommend you speak with your physician about referring you to a clinical geneticist in your area. An expert should be able to answer your questions about who in your family might want to be tested. Thank you for your comment.

My significant other's father died at age 53 from pancreatic cancer. His 69 year old sister was jus Dx. With stage 4 pancreatic cancer (mets to the liver). His son had thyroid cancer and daugther had grade 0 malignant melanoma. He is 66, he has the following Dx.. Type II diabetic, HBP, HLP, CAD, CABG and Aortic Valve replace 2014. Where do we start to be proactive with testing?

Helene, if your significant other would like to explore the possibility of genetic testing, we recommend that he contact our Clinical Genetics Service. You can get more information on testing at https://www.mskcc.org/cancer-care/risk-assessment-screening/hereditary-….

If he's not in the New York City area, he might want to ask his personal physician for referral to a genetic counselor. Thank you for your comment.

I have had 5 original cancers. Breast at 54, kidney at 56 bladder at 58, small cell lung combined with small cell stage 1 at 72. My daugher wants me to get tested if it will help her.

I am 60 years old. I had dcis at age 36, my brother died age 46 of salivary gland cancer,my other brother had colon cancer age56.
Do i need genetic testing?

Dear Ester, we are sorry to hear about your diagnosis and your family history of cancer. If you are interested in learning more about genetic testing, please visit our page on hereditary cancer and genetics: https://www.mskcc.org/cancer-care/risk-assessment-screening/hereditary-…. Meeting with a genetic counselor may help you decide whether genetic testing is appropriate for you. If you are interested in making an appointment, please call our Clinical Genetics Service directly at 646-888-4050. Thank you for reaching out to us.

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