Should You Get Genetic Testing for Cancer Risk? Here’s What to Know 

Brianna Jeffreys, a genetic counselor with Rutgers Cancer Institute of New Jersey, explains how genetic testing can lead to cancer prevention  

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Genetic testing has become more accessible in recent years. Should you consider getting genetic testing if you have a history of cancer in your family or specific risk factors? We asked Brianna Jeffreys, a genetic counselor with the Rutgers Cancer Institute of New Jersey, how genetic testing is valuable for predicting health outcomes, how it can be used in cancer prevention and treatment, and who should ask their doctor for a test. 

New Jersey Family: What types of risks for disease can be detected by genetic testing? 

Brianna Jeffreys: There are many different disease risks that can be detected through genetic testing. There are gene mutations that can put people at risk of cardiac or heart disease. There are genes that have been associated with various psychiatric or developmental diagnoses, like autism. And genetic testing can be used to determine your risk of some cancers. 

NJF: How can testing determine if someone who inherits a genetic mutation could get cancer? 

BJ: A genetic mutation essentially indicates that a person is at an increased risk to develop cancer above the general population. It does not mean that an individual has a 100% chance of developing cancer. It could, for example, tell us that rather than having a 12% chance of developing breast cancer, which is what we quote for women in the general population, a woman with that gene mutation has a 70% chance. It means a risk increase above the general population. 

NJF: Who should speak to their doctor about getting genetic testing? 

BJ: Anyone who is motivated to be proactive, either in terms of their own health or the health of their family members like their children, siblings, nieces and nephews, should speak to their doctors about doing a genetic test. 

Genetic testing for cancer is usually recommended for people who have a personal history of cancer that was diagnosed at a young age. It is also recommended for individuals who are diagnosed with rare types of cancer that we don’t see often in the general population. For example, if a man develops breast cancer, that’s not a common situation. 

Also, genetic testing is appropriate for people who don’t have a personal history of cancer themselves, but who have family members who have developed cancer, in case they’ve inherited any genetic risk factors. 

NJF: What does it mean when a cancer is hereditary vs. sporadic? 

BJ: A cancer being hereditary means that it is caused by a genetic mutation or abnormality that you have inherited from one of your parents at birth. That genetic mutation puts you at a significantly increased risk to develop cancer and will likely cause the cancer.  

We believe that about 5-10% of breast cancers are caused by inherited genetic mutations. Similarly, about 5-10% of colon cancer is due to inherited genetic mutations. We think that about 25% of ovarian cancers are genetic.  

Many cancers, however, are sporadic. Sporadic cancers are caused by random genetic changes that happen in our bodies as we age. They can be caused by an environmental risk factor like smoking, for example. Those genetic changes are not inherited in families so they cannot be passed down to your children. 

For example, with cervical cancers, about 90-95% are caused by the human papillomavirus (HPV), which is an environmental risk factor, meaning that these cases are sporadic, not hereditary. 

ScreenNJ is a statewide service that provides education about cancer prevention and detection to the community and professionals. ScreenNJ supports NJ residents to obtain cancer screening through navigation and mobile health services regardless of their ability to pay. For more information about ScreenNJ visit screennj.org. 

NJF: What are some known genes that can develop into certain disorders or syndromes or cancers? 

BJ: Some of the more common ones are genes like the BRCA1 and BRCA2 genes, which many people have heard of because they’ve been in the news. Angelina Jolie was found to have a BRCA1 mutation several years ago. Within the last couple of years, Beyonce’s father disclosed he tested positive for the BRCA2 gene after being diagnosed with male breast cancer. 

For those two genes, we believe that about 1 in 400 people in America are positive for either the BRCA1 or BRCA2 gene. For women, the main risk would be to develop either breast or ovarian cancer.  

For men, there is a risk for prostate cancer or male breast cancer if they carry a BRCA mutation. There’s also a risk for pancreatic cancer for both men and women that carry the BRCA genes. 

About 1 in every 250 or 300 people have Lynch syndrome. In that condition, there’s a risk for various cancers of the gastrointestinal system, which would include colon, stomach and pancreatic cancer. There’s also a risk for gynecologic cancers in women like uterine and ovarian cancer. 

NJF: What is the next step if a genetic mutation is detected? 

BJ: It depends on the type of cancer that an individual is at risk for. Sometimes we increase their cancer-related screening. This could mean getting breast imaging every six months instead of once a year. We might also start their screening at a younger age than when we typically would, such as starting breast cancer screening in a woman’s 20’s instead of her 40’s like women in the general population. 

We want to try to catch cancer as early as possible so that we can reduce the likelihood of that person requiring any sort of aggressive treatment like chemotherapy. There are also some options like performing certain surgeries or putting them on certain medications that can help reduce their chances of getting cancer. 

Interested in learning more or getting screened but not sure where to start? Contact ScreenNJ patient navigators for free help scheduling your cancer screening regardless of your income or health insurance status. Email patientnavigation@cinj.rutgers.edu or call (833) 727-3665 or text SCREEN to 43386. 

NJF: Should you see your doctor for a genetic test or can you use a commercial company? 

BJ: It depends on your goals and motivations. For people who have either a personal history of cancer or a family history of cancer that truly warrants genetic testing, I would encourage that person to pursue testing either through their medical provider or through a genetic counselor. 

If you’re someone who is healthy and has no personal or family history of cancer and is just interested in doing a genetic test to have awareness of what sorts of genetic risk factors you might have, then it might be appropriate to consider doing a direct-to-consumer test. Make sure you’re aware of what that company is testing for. What genes are they covering? What technology are they using? What are the limitations of the testing that’s being done so that you’re aware of how to interpret those results? 

NJF: What is the range of genetic test results a patient can get and what do they mean?  

BJ: The first would be a positive result, which means that the lab identifies that an individual was born with a genetic mutation that puts them at risk of developing cancer. Their physician might offer them certain screening tests, surgeries or medications to be proactive. With a positive result for people who have cancer, there may be options for targeted therapies or treatments.  

If a person is positive for a gene mutation, then each of their first-degree relatives – which includes their children, their siblings , and their parents – are all at a 50% risk of sharing the same genetic mutation. Oftentimes, we recommend genetic testing for their family members to try to identify who else in their family has that genetic risk factor.  

A negative result means that when we look at someone’s DNA, we did not identify any gene changes or abnormalities. A negative result reduces the likelihood of that person carrying any sort of genetic risk factor for cancer. It’s important to keep in mind that not all cancers are hereditary and other things can cause cancer outside of genetic mutations. Testing negative does not mean that someone has a 0% chance of developing cancer. It also doesn’t mean that that person doesn’t need screening for cancer. Regular cancer screenings, such as mammograms and colonoscopies, are still recommended even with a negative genetic test result.  

The last type of test result is an inconclusive result where the lab identifies that an individual has a genetic change in one of their genes, but we don’t have enough information to know whether that genetic change truly puts that person at an increased risk of developing cancer, or whether it’s a normal and benign change that does not increase the risk of developing cancer. If you get a result like that, we recommend that it be treated the same as a negative result for the time being because we don’t really know what it means.  

NJF: What role does a genetic counselor have? 

BJ: Genetic counselors specialize in genetic testing and the interpretation of genetic test results. We can also help to coordinate someone’s follow-up care. We try as much as possible to connect patients with support resources. We also work closely with social workers, psychologists and psychiatrists because sometimes there are psychological impacts that come along with identifying that someone has a genetic mutation.  

NJF: How accurate is genetic testing for cancer? 

BJ: The accuracy depends on the test that an individual has. In general, genetic testing has gotten a lot more accurate with time. We now know of many genes that can put individuals at risk of cancer. By testing for more genes rather than only testing for one or two, the test accuracy has increased a lot.  

NJF: Are there any drawbacks to having a genetic test? 

BJ: I think one of the cons is the anxiety of knowing that you’re at an increased risk of developing cancer in the case of a positive test result. Also, there could be anxiety due to the possibility of having passed down a genetic mutation to your children.  

Another potential risk, which is probably more relevant for people without a personal history of cancer, is the fact that determining that you’re at a genetically increased risk to get cancer can unfortunately, at times, impact your eligibility for certain types of insurances. There are federal laws that state most health insurance companies or jobs/employers cannot use genetic information against individuals. Your health insurance can’t drop you or raise your deductible simply because you’re at an increased risk of developing cancer. Your job also cannot fire you or make any sort of employment decisions based on that information. 

However, the main limitation of these laws is that they do not apply to things like life insurance or disability insurance. A life insurance company could potentially look at the fact that someone is at an increased risk of developing cancer and use that information to make coverage decisions and potentially deny them coverage. It’s not as big of a concern for people who already have cancer, but it certainly can be a concern for people who are healthy and doing genetic testing for predictive reasons. 

ScreenNJ is a statewide service that provides education about cancer prevention and detection to the community and professionals. ScreenNJ supports NJ residents to obtain cancer screening through navigation and mobile health services regardless of their ability to pay. For more information about ScreenNJ visit screennj.org. 

NJF: What are the costs of genetic testing? Is it covered by insurance? If you don’t have health insurance, are there ways to go about funding it? 

BJ: Many insurance companies do cover the cost of genetic testing, especially if a patient has a personal or family history suggestive of a genetic mutation. For example, if it’s someone who was diagnosed with cancer at a young age or who has a rare type of cancer or has a family history of cancer, their insurance company often will cover the genetic test.  

If, for some reason, genetic testing is not covered by insurance, at most laboratories the out-of-pocket price for genetic testing is around $250. 

Many of the labs we work with have financial assistance programs for people who either do not have insurance or who have inadequate coverage.  

NJF: What is being done to educate historically medically underserved communities in New Jersey about genetic testing? 

BJ: One of the things we have done recently is partner with the Eric B. Chandler Health Center , a Federally Qualified Health Center in New Brunswick that services historically medically underserved communities, and uninsured or underinsured patients. It’s important to us to have a strong presence within that clinic and foster relationships with the providers who are taking care of those patients. 

We also are involved in a lot of community outreach. We have given talks at various middle and high schools throughout New Jersey about genetic testing and the importance of knowing your family history. We talk to them about what it means to carry a gene that puts you at an increased risk of developing a certain health condition, and how to connect with a genetic counselor if it’s something they want to do. We also try to increase awareness about genetic counseling as a career choice. 

 

Brianna Jeffreys is a board-certified and licensed genetic counselor currently working in the LIFE Center at the Rutgers Cancer Institute of New Jersey. She received her Master of Medical Science in Human Genetics and Genetic Counseling from Emory University in Atlanta, GA in May of 2018. Brianna is on the Precision Medicine Oncology team at Rutgers Cancer Institute and assists in their review of tumor genetic testing reports on a weekly basis. She also participates in several research projects at Rutgers Cancer Institute and is actively involved in both student education as well as several patient/community outreach initiatives.  

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