Genetic testing – once uncommon and relatively unknown – has become almost commonplace at some medical centers for certain patient populations. With big stars like Angelina Jolie speaking out about their genetic testing and genetic tests becoming cheaper and faster by the day, genetic technology is rapidly becoming accessible for almost anyone who is interested in the information it can provide. But as genetic testing becomes more commonplace and more in demand, people are accessing testing through more nontraditional routes. It is not uncommon now for genetic testing to be ordered by doctors who may not have had any specific training in genetics or genetic testing. People can also now order testing themselves online through direct to consumer testing. While increased accessibility to testing is most certainly a good thing, we find ourselves at a very unique crossroads in genetic testing. While our genetic testing capabilities become cheaper and faster, our knowledge of the testing and what to do with the information is many times lagging behind this. A good understanding of the testing – what it can tell us, what it cannot, and what we should do with that information – is crucial in maximizing the potential benefits from our cheap, easily accessible genetic tests. Traditionally, this has been done through the process of genetic counseling, usually performed by a certified Genetic Counselor or another healthcare provider specially trained in medical genetics.
A recent study published in JAMA aimed to look at whether or not genetic counseling makes a difference for women undergoing genetic testing. The authors analyzed data from women whose doctors ordered BRCA gene testing between December 2011 and December 2012. Out of 3,628 total women who underwent genetic testing of the BRCA1 and BRCA2 genes, only 37% received genetic counseling from a genetics specialist prior to having their testing. If a woman was tested by her oncologist or an internal medicine specialist she was more likely to be referred for genetic counseling than those tested by other types of physicians. OBGYNs were least likely to recommend genetic testing. The authors of the study noted that this finding is “particularly concerning” as OBGYN providers are ordering testing for individuals who do not meet testing criteria at the highest rates. Of the patients that underwent genetic testing in the study, 16.4% did not meet national testing guidelines.The most commonly cited reason why women undergoing genetic testing did not have genetic counseling was that their doctor did not recommend it. The women who did undergo genetic counseling demonstrated a better understanding of their test results and what they meant for them and their family members and reported higher overall satisfaction with testing. They were also more than twice as likely to meet current national guidelines on who should undergo genetic testing.
In an editorial that accompanied the JAMA article, breast researcher Steven Narod questioned whether or not genetic counseling for every patient will remain a valid and sustainable model as genetic testing becomes more common and widespread. He suggested that genetic counseling be performed for only those women who end up testing positive for a genetic mutation that increases their risk. In the JAMA study, 8% of the women tested were positive for a genetic mutation.
For the 92% of the women tested who tested negative, their test result may not be as simple or clear-cut as they or their doctor might assume. A woman might still be at a high lifetime risk for breast cancer – needing high risk surveillance and follow-up such as breast MRIs, chemoprevention, or possibly even preventative surgery – even if she has negative genetic testing. Genetic testing has gotten increasingly more complex. There are now over 17 hereditary breast cancer genes that have been identified. A woman with a negative genetic test result may have a mutation on a different breast cancer predisposition gene that has not been assessed. And, as we discuss in more detail here, sometimes a woman who has tested negative is actually not the best, most informative, person to test in their family. There could still be a genetic mutation in her family putting people at risk for cancer, just not her! All of these possibilities should be discussed with a patient before they undergo genetic testing. Sometimes, a better person in the family to be test can be identified which saves time, money, and leads to more accurate results and risk assessment for the family. Knowing that a negative test result may not completely erase all cancer risks is also important in ensuring a person gets appropriate follow-up management.
This discussion does not necessarily have to take a long period of time! Most of the time, this content can be addressed in pre-test counseling in 15-30 minutes or less. Access to genetic counselors is excellent in many places. Most genetic counselors report they can see new patients in person within one or two weeks. And telegenetics (telephone counseling) can be available within a day in expedited cases where surgical decisions need to be made. There are many benefits to patients when a genetics provider is involved. Genetic Counselors and other providers with special genetics training tend to be more up to speed with the current genetic testing recommendations and guidelines, testing options, and insurance criteria to ensure that the best test is ordered the first time. They understand the ins and outs of testing and so are able to pick the highest possible quality test (something that can be quite difficult with all the new tests popping up out there) as well as the test that is most likely to be covered by your insurance. They are more able to accurately interpret test results. Genetic counseling also gives patients an opportunity to think about the possible pros and cons of the testing before it is ordered for them to decide if testing is even right for them in the first place as well as to better understand what to expect from the testing results.
Genetic counseling is recommended by many different organizations.The American Society for Clinical Oncology (ASCO) outlines 14 basic elements of informed consent that it recommends be performed by any provider offering genetic testing for cancer risks as a component of pre- and post-test counseling. In the absence of genetic counseling by their healthcare providers, ASCO states that it is necessary for individuals seeking direct-to-consumer testing to proactively obtain the information they need to make informed decisions. Genetic counseling is also mandated as a preventative service, to be covered in full by insurers as recommended by the United States Preventative Services Task Force (USPSTF). The US Department of Health and Human Services Healthy People 2020 includes a genomic objective to increase the number of women with a family history of breast or ovarian cancer who receive genetic counseling. Some of the major insurance testing companies such as Cigna and United Healthcare will not cover genetic testing unless a patient first has genetic counseling. In addition to the benefits of genetic counseling discussed above, they recognize the cost savings that can happen when individuals get the right test the first time and are followed up correctly. Multiple studies have demonstrated better outcomes when genetic counseling is performed by Genetic Counselors or those with specific genetics training compared with nongenetics professionals. This isn’t unexpected given that multiple studies have found that physicians self-report low confidence in their genetics training and knowledge. As the authors of this study point out, this is especially concerning given the rapidly increasing complexity of genetic science and testing.
Regardless of the debate over whether or not genetic counseling should be performed or if the current recommendations are appropriate, the ABOUT study is the first research effort based on a national sample drawn from the community setting that hypothesized – and found – that genetics services in the community setting are not being delivered according to published guidelines. Genetic counseling performed by a trained genetics professional has lots of benefits, but if we are going to insist it is important then it’s also important for us to find ways of service delivery that work for all patients regardless of their location or specific clinical situation. Dr. Narod’s concerns that the traditional genetic counseling model will become unsustainable as genetic testing becomes more common and performed on more people for an increasing number of reasons is certainly valid. It is important that Genetic Counselors and other healthcare providers on the leading edge of genetic technologies consider alternatives to formal genetic counseling such as telecounseling and phone counseling. We may need to accept that our counseling sessions may need to be shorter or, in some cases, provide the information through print or online media.
However you obtain the information, it is important for you to get the information BEFORE your testing to make sure you have all the information to make an informed decision that is best for you.