Genetic testing is a complex and emotional topic when it comes to breast cancer and reconstruction. This process can provide invaluable screening and preventative information for patients, giving them access to options from enhanced surveillance to risk-reducing procedures. At the same time, it can be extremely daunting to face results, and some patients have difficultly getting started. We sat down with Sharon Pollack, MS, CGC, MBE, Head of Content and Genetic Counselor at jscreen, to answer some key questions about how, when, and why genetic testing might take place. We started with the basics of what it is and moved through who should be tested, what certain types of results might mean for you, what you can do with the information you receive, and so much more!
Q: Let’s start with the basics: what is genetic testing/counseling and how is it related to reproductive cancer (and breast reconstruction)?
A: Hereditary cancer genetic testing refers to laboratory testing, performed on either a blood or saliva sample, that scans specific genes for any gene changes, or “mutations” that shut down the function of that gene. A mutation often means that the gene cannot perform its function properly. In the case of cancer genes, a mutation can lead to increased risk of certain cancers over a person’s lifetime and an increased likelihood to develop cancers at younger ages. Genetic counselors can help you interpret what the results of testing mean for you and help you access appropriate care based on those risks.
Q: Who should get genetic testing?
A: There are guidelines that we use to identify individuals who are at the greatest risk of being affected by mutations. Generally, we are looking for individuals who have had cancer themselves, particularly at a younger age than typical. Family history of cancer on BOTH sides of the family can also be a warning sign that a mutation may be at play. Cancers like breast, ovarian, pancreatic, prostate, colon, stomach, and others can be associated with genetic mutations that increase the risk for cancer, so these cancers in a personal or family history are particularly concerning.
Individuals of Ashkenazi Jewish ancestry are at an increased risk over the general population of carrying certain mutations that increase the risk of hereditary breast and ovarian cancer. We see that risk even when no family history of cancer is present. All individuals of Ashkenazi descent should consider getting hereditary cancer testing for this reason.
Q: If cancer runs in a family and that family chooses to undergo genetic testing, who should be tested first? Does the order impact how results might be interpreted?
A: Yes! This is such a great question! The best person to test in the family is the individual or individuals who have been affected by cancer. This is because the greatest chance to identify a mutation would exist in the person affected. If a mutation is identified in them, we have a better sense of what we might be looking for in the rest of the family.
Q: Can you talk about the different types of negative results that can come out of genetic testing (e.g. what it means to have an uninformative negative result)?
A: If a family member who has never had cancer is tested and found to be negative for any genetic mutations, it is hard to know if a mutation in the family may have been present and this negative is a “true” negative, which would mean that our patient may be at no greater risk than someone in the general population. By contrast, if no mutation is identified in an individual who has had a cancer, we will want to still consider their relatives at increased risk of similar cancers, just based on family history. In that case, additional surveillance and monitoring may still be appropriate.
Q: Why should patients pursue genetic testing? What is the benefit to them?
A: Knowing one’s cancer risk can help open doors to decisions about increased screening and even preventative measures that can catch cancer early, at a stage where it is more treatable/manageable, and even reduce the risk of cancer almost entirely.
Q: Is there any reason for a patient who was already tested to be re-tested?
A: Some individuals may have also had limited testing, perhaps without evening knowing it. In other words, when your testing was ordered, it may have only included a few genes, or possibly only a few mutations within those genes. More comprehensive testing may have been more appropriate. I would even go so far as to say that sometimes patients think they had testing that would evaluate cancer risk, but it turns out that testing did not include cancer genes at all. Additionally, while your genetics do not change, testing does change over time. Additional genes may be added to a panel that could help detect the risk in your family. These are all scenarios that would require “re-testing”.
Q: How does genetic testing work with jscreen? Can you walk us through the process?
A: Sure! You can start by visiting us at www.jscreen.org to order your at-home saliva testing kit. The ordering process is simple and includes a comprehensive health questionnaire to ensure appropriate testing. Once your kit arrives, follow the clear instructions to collect your saliva sample. The process is painless and takes only a few minutes. Once you have collected your sample, you can use the pre-paid envelope to ship your sample to the lab. Once results are available (usually within 2-3 weeks) you’ll be able to schedule a consultation with a genetic counselor to understand your results. Our genetic counselors can help you understand your results, answer any questions you may have, and provide guidance on next steps if needed.
Q: Is testing covered by health insurance?
A: When it comes to hereditary cancer testing, many insurance providers do offer coverage of testing when certain personal and family history criteria are met. A personal or family history of cancers diagnosed at early ages, and multiple cancers within the same side of the family are some of the basic conditions that should alert a person to the possibility that cancer genetic testing may be appropriate for them. Ashkenazi Jewish ancestry is another factor that influences coverage, when family history of cancer is present as individuals with this ethnic background are more likely to carry certain mutations that increase risk of cancer. Our genetic counselors can help clarify whether this testing is likely to be covered for you.
Q: If a patient tests positive for a gene mutation that increases their risk of developing breast cancer, what are the next steps?
A: That remains very much up to the patient. Increased screening beginning at younger ages than in the general population is recommended for patients determined to be at an increased risk of developing breast cancer. This usually means an annual breast MRI in addition to mammogram, and clinical breast exams are recommended as well. The objective of increased screening is to detect breast cancers at early stages, when the cancer is most treatable. Some patients will choose more of a preventive route, and opt for what we call prophylactic mastectomy, removing all breast tissue, in order to reduce the risk of cancer occurring in the first place.
Q: Is there anything patients should do to prepare for testing, both in terms of their health and their overall life?
A: I think mental preparation for the possibility of a positive result can be an important piece of the testing process. Information gained from testing is actionable, which is to say that we recommend that a patient do something with their results to help better their outcomes. I think being ready to take action if the results come back positive is a good way to go into testing. I would also say that having a trusted support person who you feel you can lean on during the process can be really helpful.
Q: Does a positive result impact eligibility for things like life insurance or health insurance coverage?
A: The Genetic Information Nondiscrimination Act (GINA) does protect patients from use of genetic testing results in determining coverage when it comes to health insurance. Unfortunately, no such protections are in place for life insurance or long-term care insurance policies. Some patients may choose to secure those policies before testing.
Q: What are the downsides to genetic testing?
A: I don’t think there are many downsides to genetic testing per se, but maybe for patients who feel very burdened by knowledge of their risk, that could be considered a downside. Genetic counseling, and having a follow-up plan in place can help, but testing can be an emotional process. The goal of testing, however, is to empower patients with information about their risks, and to allow them to take better control of their care to ensure the best outcomes possible.
Q: What should patients consider when they determine when to get tested (i.e. at what age or stage of life)? Are there specific reasons that would make it advisable to wait?
A: For women with mutations that increase breast cancer risk, breast MRIs and mammograms can start as early as around age 25. So, testing in time to begin screening at that time may be advisable. I would reiterate, the best time to get BRCA testing is when you’re ready to use the information, but that may be different for every person.
Q: Is there anything else that you feel patients should know about this process?
A: jscreen’s process specifically is designed to be patient initiated, which puts the power in your hands to ensure you are getting the highest quality testing, and the care navigation you deserve. Especially now, when clinic wait-times can be months long, and testing costs can be very high, jscreen’s services are more important than ever; we are trying to remove barriers to accessing potentially life-saving information.
For more information, or to order your kit online today, visit jscreen.org.
