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UAB Genetic Counselor Discusses Genetic Cancer Testing

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What can genetic testing tell us about people’s risk for being predisposed to hereditary cancer, and how do patients and providers respond to positive test results?

The UAB MedCast team got some answers on the topic from Meagan Farmer, MS, MBA, LCGC, a genetic counselor with UAB Medicine. UAB MedCast is an ongoing podcast series for medical professionals that offers continuing medical education (CME) credit. It is the first CME podcast series in the region and includes over 250 episodes so far, with new installments being added each week.

Q: Can you tell us a little about what you do?

A: My main focus as a genetic counselor is on the hereditary side with germline genetic testing, which is done to see if someone is born with a genetic predisposition to develop certain cancers. (The germline is the population of a multicellular organism’s cells that pass on their genetic material to offspring. In other words, they are the cells that form the egg, sperm, and the fertilized egg.) My work also overlaps with somatic tumor testing (testing of actual cancer cells), which is really more about gathering information that helps with targeted treatment planning.

All cancers and tumors have genetic mutations that are separate from the germline genome, and these mutations in the tumor or cancer can affect how the cancer behaves. Oncologists try to take advantage of this, to use somatic testing to identify these mutations that might help them individualize therapies. Sometimes there are overlaps between those two types of testing, because the somatic testing may reveal clues that there is an underlying germline mutation as well. But for the most part, these two tests are used for separate reasons, and my clinical focus is more on the germline side.

Q: What is a genetic counselor’s role in oncology, and what are the benefits of providers recommending that their patients see a genetic counselor?

A: In general, genetic counselors are medical professionals who have specialized education in both genetics and counseling. So, we can help other providers’ patients work through genetic testing and help people adapt to genetic information. In the oncology space, providers might refer a patient because they want to know if the cancer their patient has is hereditary. And if so, that might change their plans from a treatment standpoint or may mean that the patient is at increased risk for a future cancer.

Other times, a physician or other health care provider may refer a patient because of a family history of cancer. The patient may be asking them questions about whether they’re at increased risk for the cancers that have been seen in their family. Genetic counselors can identify whether genetic testing is appropriate, who the best person in the family is to test, and what the best genetic test is. Once testing is coordinated and completed, the genetic counselor can interpret those results and provide information that will help develop medical management plans for both the patient and their family. The genetic counselor shares this information with both the patient and the referring provider, so that they can have an engaged discussion about next steps.

Q: What is the importance of testing other family members or identifying family members in the past who may have been affected?

A: We always start with thorough medical and family histories. Sometimes we take these family histories and realize that it’s not the patient in front of us who is the best candidate for genetic testing, it’s someone else in the family, because we want to start with the person who’s most likely to test positive. And that person could feel somewhat blindsided if they’ve never considered it themselves.

In other cases, I do test referred patients, and they come back positive for a pathogenic variant or mutation that is associated with hereditary predisposition to cancer.  We then know that children, siblings, and parents may be at risk. And sometimes patients haven’t thought about the potential effects for family members ahead of time. We try to prepare them as best we can in the pre-test genetic counseling session, but often people don’t really think they’re going to come back positive.

Q: How do you advise patients to tell family members, “I’m getting tested, maybe you should get tested, too.”?

A: We remind patients that they’ve dealt with difficult conversations with their families before and that they know their families best. We might help them write letters to their family that outline the important information and implications, and we either offer to see them ourselves or find genetic counselors in their area who can help them navigate the process, so that there’s less pressure on the patients and their relatives.

Q: There are some direct-to-consumer tests out there. If someone’s concerned about their hereditary cancer risks, do you advise that those sorts of tests be used?

A: We don’t advise that direct-to-consumer (DTC) tests be used as the first choice if someone has concerning personal or family history of cancer. But we do know that some insights can be had from tests by companies like 23andMe, so we don’t ignore them, either. I’ve heard some physicians say that they just shred these results when their patients bring them in. We don’t want to do that, because sometimes these tests actually do uncover something, and we may have to follow that up with medical-grade genetic testing.

Another important thing for health care providers to recognize is that there are new genetic tests and models that are somewhere between traditional and DTC tests that are called consumer-initiated genetic tests. These are medical-grade tests initiated by a health care consumer outside of the typical patient-physician setting. It would be important for a physician to be able to differentiate between a DTC and consumer-initiated medical-grade genetic test, or to identify a genetic counselor that can help if this comes up.

Bottom line, if someone has a concerning personal or family history of cancer, the best thing to do is to start with an expert like a genetic counselor to determine whether genetic testing is appropriate and the best test to order. But we will continue to see new tests and models, so we’ll have to stay flexible and learn together.

Q: For providers who are discussing genetic testing results with their patients, how can they also deal with the emotional aspects of a positive result?

A: I always remind patients that we wouldn’t be offering genetic testing if we couldn’t do something about a positive result. So, when we find that someone has a genetic predisposition to cancer, our next questions are, “Which cancer is it, and how high is the risk?” Then we walk back from that and say, “How can we find those specific types of cancers earlier, when they’re easier to treat, or maybe reduce the risk of those cancers altogether?” We’re not just opening a Pandora’s box where we say, “You’re at increased risk for cancer, good luck.” From the very beginning, we let them know what we would do if they test positive, which sometimes gives them some relief.

Also, sometimes we talk through whether now is the right time to test. I’ve had pregnant patients who come to me for testing for hereditary cancer reasons. And by the end of the appointment, they say, “Maybe I want to wait until the baby is born and we’re somewhat settled,” or “maybe this isn’t the right time.” In the meantime, there may still be some cancer screening that we can do just based on family history, so they have that peace of mind. Timing can be really important.

Q: What else can you do when someone gets a positive result?

A: We can identify support groups that might be a good fit based on the same or a similar genetic condition or cancer. But there are times when those typical resources just don’t cut it, and the patient needs to meet with a mental health professional as well, so we can connect them with someone in their area who takes their insurance. Genetic counselors are trained to do short-term psychosocial counseling, but we also can identify when someone may need longer-term help.

Q: What are the insurance implications of hereditary cancer testing?

A: This is a really common area of concern for patients, because they wonder if they could be dropped from health insurance or forced to pay higher premiums if they get a positive result. They have the same concern about other types of policies, such as life insurance, supplemental cancer policies, and disability insurance. The Genetic Information Nondiscrimination Act (GINA) become law in 2008, and it protects individuals from discrimination by health insurance companies and employers based on genetic information. Genetic information could include genetic test results for the patient or family members, or even a family history of cancer. So, there is some protection when it comes to eligibility for insurance or for setting premiums.

However, GINA does not apply to life insurance, disability insurance, or long-term care insurance. We’re not really seeing a lot of discrimination in those areas, but it wouldn’t be illegal for a life insurance company to ask for genetic test results if someone was applying for a new policy. For people who want to come in for genetic counseling and potentially genetic testing, if they feel that they don’t have adequate coverage in one of those areas, they might get a policy in place before undergoing genetic testing, just in case.

Another growing area of concern is insurance coverage related to the recommended screening and risk-reducing interventions when someone is found to have a hereditary predisposition to cancer. Some health insurance policies offer good coverage for genetic testing but not for these interventions, even if based on medical guidelines. Patients may then be left with significant out-of-pocket costs or have to forego these potentially life-saving screening and risk-reducing procedures.

Q: How is the field of cancer genetics and genetic counseling evolving? What’s exciting in the field right now and worth telling other providers about?

A: I feel like everybody says their field is changing quickly, but in genetics, that really is true. For one thing, genetic testing options just keep expanding. We’ve identified more and more genes that we can test at once with one sample, so the testing panels are expanding. And we’re able to analyze these genes in more advanced or thorough ways, so things like RNA testing are being coupled with DNA testing.

Secondly, the threshold for hereditary cancer testing continues to drop, so this is creating an explosion of requests for genetic testing from providers and patients themselves. That can be a challenge, because there are too few genetic counselors, especially if you want one who’s nearby. That means we have to get more creative about increasing access, so UAB Medicine uses telehealth to help increase access for rural areas and other places without genetic counselors. We’re also partnering with My Gene Counsel – a digital health company that I also work for – to support physicians who are ordering genetic testing on their own and need point-of-care support from digital tools.

Finally, we are learning more about the genetic conditions themselves. We’re learning more about the risks associated with these pathogenic variants and mutations and how best to address those risks. This means that what I tell a patient today may be different six months or a year from now, so it’s really important that patients and their providers are kept up to date on the latest developments. That may mean checking back in with their genetic counselor, periodically checking the latest guidelines from the National Comprehensive Cancer Network (NCCN) or other authorities, or using technology solutions like UAB is doing with My Gene Counsel, to actually create an electronic link back to patients and keep doctors updated on the latest developments.

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