Tag Archive for: somatic testing

Essential Testing Following a Prostate Cancer Diagnosis

Essential Testing Following a Prostate Cancer Diagnosis from Patient Empowerment Network on Vimeo.

What essential tests do prostate cancer patients need following a diagnosis? Dr. David Wise shares an overview of imaging, scans, and targeted testing to help guide an optimal care and treatment plan for each patient.

Dr. David Wise is Director of Genitourinary Medical Oncology at the Laura and Isaac Perlmutter Cancer Center at NYU Langone Health. Learn more about Dr. Wise.

See More From INSIST! Prostate Cancer

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What Do Prostate Cancer Patients Need to Know About Genetic Testing?

What Do Prostate Cancer Patients Need to Know About Genetic Testing?

Why Should You Ask Your Doctor About Prostate Cancer Genetic Testing?

Why Should You Ask Your Doctor About Prostate Cancer Genetic Testing?


Dr. David Wise:

Sure. So, that’s a great question. The testing for prostate cancer really has advanced over the last decade. So, it’s very much standard, of course, for patients to have a biopsy to confirm evidence of prostate cancer. That biopsy will assess for the Gleason score, which gives us information about how abnormal those cells look under the microscope.  

It remains the most important feature for understanding the risk of the cancer and how intensive the treatment needs to be to treat that cancer. Of course, the PSA at the time of diagnosis is also useful for that assessment of risk. And the MRI is the third key feature that we look at, the MRI of the prostate, that is, which is often done before biopsy and often guides the biopsy for the urologists to make sure that they’re sampling the most concerning nodule within the prostate. And that MRI gives us information about the extent of the cancer, whether there had been any spread of the cancer, and the overall size of the prostate cancer mass. Now, over the past few years, there’s been some changes.  

So, patients with high risk or very high risk but nonmetastatic prostate cancer are often also imaged with something called PET scan, which is specific for prostate cancer looking at the levels of a protein called PSMA. And there are several brand names that will provide that imaging test through this PET imaging scan. That also gives us an even more accurate sense of the extent of the cancer, whether it has spread or not.  

And I think what’s really important is also thinking about the genetics of the cancer. And so, for patients with high-risk early-stage prostate cancer or metastatic prostate cancer and for patients with a significant family history or with an Ashkenazi Jewish ancestry, we recommend hereditary genetic testing.  

And that needs to be distinguished from testing of the tumor itself or testing of the DNA derived from the tumor, which is called somatic testing. And it is not a hereditary test, but it’s a test that actually gives us information about the genes that are mutated and promoted at the development of that cancer. And that somatic testing is important, but it’s really critical for men who have advanced prostate cancer, metastatic hormone-resistant prostate cancer, where we already have FDA-approved treatments that are tailored to the results of those gene test results.  

So, those are really the standard tests that we think about. There are some emerging tests I think that some oncologists will recommend, and some won’t. The most prominent of those is the Decipher genomic score. So, that’s a test that also uses RNA or a type of genetic information from the cancer that can be used to assess the risk.  

And in my experience, that gives sometimes complementary information and adds further, I would say, or sheds further light on the tests that we already have. And particularly for men with otherwise intermediate risk prostate cancer, sometimes, the Decipher test can give us some more clarity, but I don’t think it’s absolutely critical at this time to order that test. I think we usually get the information that we need from the test that we have. 

What Do Metastatic Breast Cancer Patients Need to Know About Genetic Testing?

What Do Metastatic Breast Cancer Patients Need to Know About Genetic Testing? from Patient Empowerment Network on Vimeo.

What do metastatic breast cancer patients need to learn about genetic testing? Expert Dr. Sarah Sammons explains the difference between germline testing versus somatic testing and defines key terms, including biomarker testing and genetic mutations.

Dr. Sarah Sammons is an oncologist at Duke Cancer Institute and Assistant Professor of Medicine at Duke University School of Medicine. Learn more about Dr. Sammons here.

See More From INSIST! Metastatic Breast Cancer

Related Resources:

What Is the Role of Genetic Testing in Breast Cancer?

Essential Testing Following a Metastatic Breast Cancer Diagnosis

How Do Genetic Mutations Impact Breast Cancer Risk, Prognosis and Treatment?



Many patients are confused by genetic testing. Let’s look at the difference between germline and somatic testing.

Dr. Sammons:

Yes, that’s a really good question and one that comes up in the clinic quite frequently. When I tell a patient that I want to get some sort of genetic testing, they often are confused, and say, “Well, I’ve already had genetic testing, maybe when I was first diagnosed with early-stage breast cancer.” And so then, I do often times need to explain what the difference between germline and somatic genetic testing is.

So, germline testing is testing that’s done on cells in your body that actually don’t have cancer. And the purpose of germline testing, which we often do in early-state breast cancer or in metastatic breast cancer, is to understand if you have inherited genes that could pre-dispose you to developing breast cancer. But also, in the metastatic setting, it’s important to do germline testing because we do have drugs that are approved for patients that have germline mutations in the BRCA genes. And research is evolving, but there are other germline genes of interest that could be biomarkers for other therapies.

Somatic testing is basically genetic testing on the breast cancer cells themselves. So, most often we will get a biopsy, usually of a metastatic area, like the liver, or bone, or lung. Really the safest, most accessible place. If we’re able to safely get a biopsy, oftentimes we’ll send somatic testing – that’s also referred to as usually next generation sequencing – is all somatic testing. And that tests mutations that have developed in the breast cancer itself. It could potentially be biomarkers for optimizing and tailoring personalized treatment approaches to the patient’s cancer.


I’d like to define a few terms. First of all, what is biomarker testing?

Dr. Sammons:

That’s a really good question. So, a biomarker is really anything – it could be a gene; it could be a protein – that is expressed on a patient’s cancer, that makes them a good candidate for a certain drug, essentially.

So, one of the earliest biomarkers that we’ve had in breast cancer – and still, I would argue, the most important biomarkers – are estrogen receptor and HER2.

Now, we test all breast cancers for estrogen receptor and HER2 because we know for estrogen receptor – if a patient has estrogen receptor high positivity at their initial diagnosis, that is the best biomarker for endocrine therapies, whereas HER2 present on a breast cancer cell – patients that overexpress HER2, they are great candidates for drugs that specifically target HER2.

So, it simply means that we found something on their breast cancer cell that makes them a good candidate for a treatment.


What is a genetic mutation?

Dr. Sammons:

So, genetic mutations are a permanent change in the DNA of a gene, in either a cancer cell or a cell that somebody was born with. So, it’s a change in the DNA sequence. And some gene mutations drive cancers to grow. Some mutations do not drive cancers to grow. Generally, in the treatment of all advanced cancers, we only target with drugs those gene mutations that we know are what we call “driver mutations.” So, mutations that actually cause the cancer to grow.