Genetics and Genomics: What Patients and Providers Should Know


Genetic and genomic testing are becoming more popular and useful in the cancer space.

Genetic and genomic testing are shaping the way that cancer is treated, improving outcomes across all tumor types. As more testing is done, it is important that both patients and providers understand the difference and work as a team to keep up with the ever-evolving field of cancer care, according to Marcia S. Brose, MD, PhD, associate professor at the University of Pennsylvania School of Medicine.

Brose recently spoke with Oncology Nursing News about the basics of genomic testing.

Oncology Nursing News: Can you explain what genomic testing is and how it differs from genetic testing?

Brose: What we're referring to is taking a piece of the cancer tissue and testing all of the genes that are present to see if any one of them contain a mutation that really could have led to the cancer forming or are directing its behavior.

The genomic testing is done on the cancer tissue itself. A lot of people, when they think about genetic testing, may be aware of people who do genetic testing to understand their ancestry or other people who do genetic testing to find out if a certain trait is running in their family. That doesn't test directly the cancer cells themselves. When we refer to genomic testing, we use that phrase to say that we're looking at all the genes in the cancer, not in the whole body.

How can this determine potential treatment options for patients with cancer?

More recently, the excitement has been around some drugs that can directly target that mutation and not target a lot of other sites. What that can mean is that we can actually do a much better job at eliminating the cancer with the potential of a lot fewer side effects. The excitement is that now we're using genetic and genomic testing to match it with the drug that can directly affect that cancer.

Also, these drugs now can be targeted to cancers, and it doesn't matter what kind of cancer patients have. If they have that mutation, it's likely that drug will work. That's a paradigm shift. We used to just say, "You have lung cancer, so we treat you with these drugs," or "You have breast cancer, so we treat you with those drugs." Now what we're saying is, "If your cancer isn't cured and we test it and find this mutation, this drug actually might be really good for you."

How can the website, help patients understand more about this testing, and the conversations they should have with their healthcare providers?

There are sites that are helpful to help patients understand what this means. The first person people need to speak to is their oncologist. If they don't have an oncologist and they have recurrent cancer, they should probably get one and discuss that with them.

This kind of testing is somewhat new, so sometimes doctors may not always be aware that this is something that they should consider. But just by raising the question, many oncologists will look into it and say whether this will be appropriate for a specific patient.

What would be your biggest piece of advice for someone facing a cancer diagnosis?

There are so many things I would love to tell someone who is going through that. All the settings [of cancer] are so different. Being an advocate for yourself and being active in the process is probably the most essential part. There are places where, in order to get the best treatment, you do need to educate yourself, but also understand that interpreting things just from the internet and things like that can sometimes be off-putting because you hear things and you don't know that they do or don't apply to you. You have to balance being educated and educating yourself with making sure that you're checking that you're also learning with a specialist. Don't just assume anything. There are a lot of new things coming out, and there's a lot of hope out there, and it may not be something that the internet may be aware of, but it may be something that your physician might be.

It's a partnership. Being active in your care is so important. I think that no matter what stage of your cancer you're in, there are always choices, right from the beginning to the point that you're going to pass away. There are choices for what patients can do.

Read More:

A Positive Outlook for Lynch Syndrome-Related Cancers

Minority Health: Genetic and Genomic Screening

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