Genetic Screening, Testing, and Counseling: Take Control of Your Health!

Amy is a 37-year-old professional living in NYC who was recently diagnosed with breast cancer. She is currently undergoing treatment at NYU Langone Health. You can read more about Amy’s diagnosis here and a Q&A with her medical team here.

Ophira Ginsburg, MD, is the director of the High-Risk Cancer Genetics Program. A medical oncologist with expertise in cancer genetics, prevention, and screening, she and her team of genetic counselors help families understand their risks for developing cancer and provide risk-reduction strategies. Her research focuses on identifying and reducing cancer health disparities.

Anna Cantor, MA, MS, CGC, is a board-certified genetic counselor who specializes in adult and pediatric cancer genetics. Her clinical interests include increasing knowledge about cancer genetics among healthcare providers, and promoting awareness about BRCA genetic mutations in the Ashkenazi Jewish community.

Hi from Amy!

This week, I want to raise awareness about three important tools in the breast cancer prevention, diagnosis, and treatment toolkit: genetic screening, genetic testing, and genetic counseling.

Before my breast cancer diagnosis, I didn’t understand these services fully. Now, I think of them as being three stages of the same process:

  1. Genetic screening is when patients answer questions about their health and family history to determine if they have higher risks for getting certain cancers. 
  2. Genetic testing is usually next. A quick blood draw or saliva sample lets doctors perform DNA analysis to confirm if a patient has a genetic mutation, or a change in their DNA, that increases their risk to develop certain cancers.
  3. Genetic counseling is ongoing. It helps patients decide whether to do genetic testing—and if so, what kind of tests they should take and what the results might be. Then, the genetic counselors help patients to interpret those results and guide us through the decision-making process.

Being diagnosed with breast cancer at the young age of 37, cancer genetics are crucial to my care plan. Anna Cantor is my genetic counselor, and I’m so lucky to have her in my corner. She’s helped me at every step of the way to take control of my journey. Talk about an empowering experience!

I'm excited that this week, my colleagues at NYU Langone Zoomed with Ms. Cantor and Dr. Ophira Ginsburg to learn more about how all this works. 

A Q&A with Dr. Ginsburg and Ms. Cantor of the High-Risk Cancer Genetics Program at NYU Langone’s Perlmutter Cancer Center

Many people haven’t had experience with genetic screening, testing, or counseling. Can you share a little bit about what the process is like?

Ms. Cantor: When a patient has a screening, they meet with a certified genetic counselor. That’s a healthcare provider who is trained in medical genetics and counseling. We review their personal medical history and ask them very detailed questions about their family’s history with cancer: family members’ ages at diagnosis, their types of cancer, the family’s overall size, and how long family members have been living. Then, we look for red flags that may indicate a genetic predisposition for cancer in the family, while also examining the proportion of non-genetic cancers in a person’s family.

If we find reasonable concern that the patient may have a genetic condition, we offer genetic testing. We help the patient decide on an appropriate test; go over possible results that could arise from the genetic test; and discuss recommendations should we find a positive result.

Dr. Ginsburg: It’s also important to understand that sometimes, a patient looks like they have a heritable form of cancer, and genetic tests can’t detect it. For example, with someone as young as Amy, even if there are red flags like early onset, multiple cases of breast cancer in the family, bilateral breast cancer before age 50, and so on, family members can still test negative for heritable cancer.

That’s because right now, we only know about one-third of cancer’s heritable causes. There are over 20,000 genes in the human body, and our largest tests only include a few of those. We’re working to address this knowledge gap through research.

Ms. Cantor: In the meantime, genetic counseling helps the patient to make sense of genetic test results and plan their next steps for treatment. We want to give individuals control over their health and enable them to make proactive decisions. The best-case scenario is when we can help patients reduce their chances of ever receiving a cancer diagnosis in the first place.

If people are eager to undergo genetic screening, how can they start that process?

Dr. Ginsburg: People can do their own risk assessment on our new website and self-refer. The questionnaire can be completed in just five minutes, and the results come straight to us. If the results suggest there may be risk factors warranting genetic counseling and further testing, the wait time for an appointment is as low as two weeks. We use a triage process to prioritize those who should be seen most urgently.

Sometimes, healthy people don’t want to undergo genetic testing. There can be a lot of fear about what they might find. What advice do you have for people who are feeling nervous about it?

Ms. Cantor: That’s such a good question. I think that part of the concern stems from not fully comprehending the process and wondering: Will this just open a can of worms? I think that’s why it’s so valuable to speak with a genetic counselor. We are there to walk the patient through all of their concerns. If they’re not sure they want all the information that’s available to them, we can share the different testing options available and order tests that are more focused and more digestible for the patient.

Dr. Ginsburg: Exactly. There’s no one-size-fits-all test. We can customize panels for our patients. We can elect not to test for genes that don’t yet have specific health management recommendations available, or for genes whose cancer risk associations aren’t totally clear yet.

Our counselors meet each patient where they’re at and give them the information they need to make an educated decision about whether or not to test. We reassure people we’ll be there to interpret their test results in a way that’s relevant to them.

It’s important to know that there are actionable ways for patients to take control of their healthcare and lower their risk for certain cancers, including breast cancer. Think of it as part of your overall wellness strategy.

Genetic counseling services are available to all NYU Langone patients with a personal or family history of cancer, as well as those who have a known genetic mutation.}

Anna, what do you feel is special about doing this one-on-one genetic counseling work?

Ms. Cantor: You know, I’ve had some patients tell me that my job must be really depressing. They mean it in a nice way, with compassion and concern—but they imagine it’s awful to work with patients who were diagnosed with cancer at a young age.

The way I look at it, I'm giving patients the tools to take control over their health and be proactive about their care decisions.

Some patients say, “Look at all this cancer in my family! It's inevitable that I'm going to get it.” But when I break it down for them, we may learn that actually, there's a ton of lung cancers or head and neck cancers in family members who were smokers, which is clearly environmental. And we might find that none of the family’s other cancers are related to each other—meaning the cancer in their family isn’t really heritable.

Learning that gives patients a profound sense of relief and empowerment. The idea that it’s not inevitable means there are actually things they can do, whether it be genetic testing or modifying their lifestyle, and they’ve immediately regained control over their health.

I like that really rewarding feeling when I get an “a-ha” moment from my patients, where they say, “Oh, my goodness. This isn’t inevitable? I didn't see it that way. I’m so glad there are actually things that I can do!”

What are some of the specific things a doctor or genetic counselor might suggest people do to mitigate their cancer risk?

Ms. Cantor: We might ask people to eat everything in moderation, to increase their level of exercise, to avoid certain substances that shouldn’t be in the body.

Dr. Ginsburg: Or, if your family history or genetic testing indicates a patient is at higher risk for breast cancer, the patient can screen earlier and more frequently using additional imaging tools. Such measures can have a significant impact on patient outcomes.

Are your patients sometimes surprised that there are things they can do that aren't so invasive or scary to prevent cancer?

Ms. Cantor: Definitely! Cancer is the ultimate betrayal, and people find it amazing when you give them the tools to take the control back.

To schedule your genetic assessment or inquire about services in the High-Risk Cancer Genetics Program, please contact us at 646-754-1376 or visit our program online.

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