What a Genetic Counselor Wants You to Know (With No Sugarcoating, But Lots of Compassion)

I’ve been working at Penn since 2008; I am a certified, licensed genetic counselor and have a master’s in genetic counseling. We can be tucked into oncology, cardiogenetics, neurogenetics, prenatal: we’re across many specialties.

We see people who have a personal and/or family history of breast, ovarian, gastrointestinal, prostate, and colon cancers, among other common cancers as well [people with] rarer tumors. People with a personal/family history suspicious for hereditary risk could mean someone is diagnosed prior to age fifty, has a rare tumor, has multigenerational family history of cancer, or someone with a family member who’s already tested positive for a mutation and this relative wants to know: Did they inherit this risk, and what can they do?

People come through self-referral, i.e. because they are seeking us out. Those people are worried about their personal or family history of cancer. Or they’re referred to us by their doctor, who could be a cancer specialist, gynecologist, primary care doctor, internist. We heavily use the available National Comprehensive Cancer Network (NCCN) referral criteria. These criteria are based upon tumor type, tumor features, age at diagnosis, supporting family history, and even ethnicity. Regarding the latter, 1 in 40 individuals of Ashkenazi Jewish descent (Central/Eastern Europe) have an inherited risk for cancer due to mutations in BRCA1 and BRCA2.

We are also referred to for individuals who may benefit from genetic testing to inform therapeutic treatment of their disease. Additionally, some individuals who have newly diagnosed breast cancer may use the information to inform surgical decision-making. If someone carries a BRCA1 mutation, they might feel more inclined to consider a larger surgery, because the risk for a second, entirely new breast cancer is higher. We want to make sure that the patient feels oriented with choice.

Even, for example, in the setting of BRCA and pre-surgical decision-making, bilateral mastectomy doesn’t have to be something an individual ever wraps their head around or does. It’s about arming the patient with information to make informed choices.

Sometimes that also means drowning out the background noise—discussion boards, parents, partners, all these well-intentioned opinions—and getting to the core of you and what might be best for you in a medically and psychologically safe space. You can have a lumpectomy and treatment as a BRCA1 carrier. Long term, we’d adjust surveillance with mammograms and MRIs, if that feels right to you. Though many women with a BRCA mutation may elect for bilateral mastectomies (removal of both breasts), whether as part of breast cancer treatment or preventatively, it’s not absolute that someone should do this.

That’s a good fit for many, but not for all. In the context of early stage breast cancer, when you compare life expectancy between individuals who choose breast conservation therapy—like a lumpectomy—followed by long-term surveillance and someone who elects bilateral mastectomy, they are similar. Surveillance does not prevent a second future breast cancer but the aim is early detection when the diagnosis is treatable and curable.

Something that gets lost in translation is age-stratified risk. You might see a report that says up to an 87% lifetime chance of breast cancer, but if you’re 25, your risk right now may be 1% or less. That 87% accumulates over a lifetime. You’re not sitting on that 87% risk in the present. As you live each decade, you’re stripping away some of that risk. There is elevated risk, and that’s why we recommend X, Y, and Z, but for younger individuals especially, there are often light bulb moments when they understand their risk isn’t that high right now.

It’s very context-dependent: age, family history, personal history. Some individuals come in at 26 or 27 for testing for a known family mutation. Maybe it’s been part of dinner conversation for years. There’s preparedness and readiness. But there can also be fatalism, someone is just like, ‘I’m preparing for the positive.’ Even if it’s one in two, in their head it feels like 100%. Statistics don’t always help. You honor that, then gently deconstruct it.

If the result is negative, their mind can be blown, it’s total disbelief. Sometimes they ask, ‘Should I get retested?’ They’ve prepared for a journey that suddenly flips. They adapt beautifully, but there can also be survivor guilt if siblings tested positive. I hear people say, ‘I wish I could take that mutation from my sister, I am just better equipped to deal with this than she is, and I wish I could take that burden for her.’ So there is that complexity to it.

Sometimes patients get this information on a quick phone call, and [people can find] that to be a very distressing and traumatic way to learn [this information]. So even a little bit of warning or preparedness would have probably helped.

Sometimes people are rocked and shocked. When we give results by phone, the line can go quiet. Instead of launching into statistics and management, we give space. We’re emotionally available. Sometimes it deserves a follow-up call and we also make recommendations to schedule an appointment to meet with one of our expert physicians about medical management and to further discussion. It’s not the time to hit them over the head with everything.

If someone tests positive, it can feel like a before and after: I carry this risk; how do I manage my health? Do I have kids? It’s wrapped up in relationships, future children, all of it. It’s meeting it with empathy and genuineness. We’re empowering patients to be proactive and preventative. This is a cancer predisposition: a susceptibility.

At Penn, we can integrate patients into a clinic where a physician follows them yearly for BRCA1, BRCA2, among other gene mutations: discussing risk management, guideline changes, research opportunities. That doesn’t happen everywhere.

There’s a big component of downstream follow-up and cascade testing: making sure family members get plugged in, which we admittedly struggle with, along with a lot of hospitals and centers.

Anyone with reported Ashkenazi Jewish ancestry, even one Jewish grandparent, could consider testing. Also, personal or family history of breast cancer under fifty; ovarian, pancreatic, or prostate cancer at any age; colon or uterine cancer under fifty; or multigenerational cancer on one side of the family. Aggressive prostate cancer can be harder to parse through. We also recommend testing for those who have a known blood relative who has tested positive for a gene mutation (familial mutation).

Many people pursue testing for their children and family, so they can have information they may need to pass to their children.

With testing, we also consider whether knowing about a mutation would lead to some actionable plan. Could we actually do something differently, once we know?

A good starting point is asking your gynecologist or primary care provider. They should be eliciting family history and, based on that and ethnicity, identifying eligibility for genetic counseling and testing. If you ask your doctor about testing, and they’re unsure, a good doctor says, ‘Let me find out.’

The National Society of Genetic Counselors has a “find a genetic counselor” tool. People can also search for a local genetic counseling program.

Often the hardest part is knowing where to start. If someone in your family had cancer, you can ask if they did genetic testing, and through whom. Not all genetic testing has to be done through a genetic counselor. We’re trained; we know what we’re doing. Gynecologists, primary care doctors, oncologists, surgeons may also facilitate testing quite well.

Testing is always available, though someone may not meet insurance criteria and the likelihood of a positive may be low. Ultimately, they might be paying out of pocket. Some labs have a self-pay price around $250. There is also direct-to-consumer testing, which I’m not advocating for.

My worry is that you're getting a genetic test, but you don't really know what it's testing for. Is it a complete test? Does it really fit your personal family history, and if it comes back with a finding or no findings, is it going to be interpreted correctly?

Some labs follow up proactively if a result is positive, but with limited information, you can easily miss an email or not realize you’re positive. We’ve seen people referred a year and a half after a positive result they didn’t understand.

Adoption, estrangement, or limited family structure are also [good reasons to seek testing in general]. In those cases, we often cast a wider net because we don’t know the history. Some labs offer proactive panels covering reportable cancer genes, cardiomyopathy genes, and carrier status like hemochromatosis genes that are clinically valid and have guidelines. Patients are informed what we’re testing for and can decline [various tests].

If someone is motivated to be proactive about their health and informed [about it], especially if they have genetic children [who they’d also like to provide information to], it’s worthwhile to have the conversation with a genetic counselor. If someone isn’t going to act on the information, it may not be the test for them. A minority have said, ‘If I knew this would be the result, I wouldn’t have done this.’ So we want people to know what they’re getting into.

A common misconception is that genetic risk only tracks from the maternal side. It can come from mom or dad.

Testing is no longer thousands of dollars. Most patients achieve satisfactory insurance coverage, and there are ways to reduce costs. Costs shouldn’t be a barrier. As for funding assistance, it’s often direct communication with the laboratory, which you’d navigate through a provider. There are patient assistance programs based on need, and eligibility is often well above the national poverty line. A genetic counselor can navigate that and minimize the risk of a surprise bill. I’m a strong advocate for genetic counseling and testing, but it shouldn’t be perceived as a barrier or bottleneck.

Genetic counseling doesn’t obligate you to test. Some people think, ‘I don’t know if I want to know, so I won’t pursue it.’ But the conversation doesn’t obligate testing. You can keep coming back to talk about it. You don’t know what you don’t know.