Suzanne Mahon is an adjunct professor in the department of internal medicine of the division of hematology and oncology at Saint Louis University Cancer Center, in St. Louis, Missouri and the School of Nursing at Saint Louis University. She is a credentialed advanced practice nurse in genetics, and is an expert in providing genetic education services to patients and families. In her work for the Hereditary Cancer Screening Program at Saint Louis University Cancer Center, Dr. Mahon helps at-risk individuals and families understand the implications of their family history, and offers in-depth education and risk assessment for all cancer types. She also provides counseling about potential risks, benefits, and psychosocial implications of genetic testing, as well as recommendations for the prevention and early detection of cancer.
At the 38th Annual Oncology Nursing Society Congress, Dr. Mahon is presenting a session entitled “Successful Hereditary Risk Assessment Program Development.” Today she is speaking with Cancer Network about standards for healthcare provider competency in offering comprehensive genetic services, and will be highlighting some good genetics/genomics resources for nurses. She will also discuss the psychosocial impact of direct-to-consumer genetic testing, and the implications of DTC testing for nurses and other cancer care professionals.
—Interviewed by Anne Landry
Cancer Network: In your session at ONS Congress, you outline what it takes to provide comprehensive genetic services, including competency of the provider and components of comprehensive genetics services. This includes new standards for providing services. You also have an article in the April issue of CJON about how important it is for nurses to order the correct genetic test for a patient. Could you share some highlights that nurses need to know?
Suzanne Mahon: Well, I think it’s really important; there’s been a huge push to offer genetics and genomics services, especially in oncology, and many people mistakenly think that that is just ordering things like the BRCA1 or BRCA2 testing, or sometimes maybe some of the testing for Lynch syndrome. But to really provide comprehensive genetic services, there’s quite a bit more involved. At the ONS Congress, we will be speaking about the nuts and bolts of how a program is actually designed and developed. Ironically, I carry out a very successful program in about a 12-by-12 foot office with really no other secretarial support or anything else, so it’s not the physical provisions for space and whatnot that make a program successful, but it’s the people and how the program is organized.
There are basically three types of credentialed genetics professionals. There are master’s-prepared genetic counselors, most of whom have a degree in biology or sociology, and then they go on to get a master’s degree and sit boards in genetic counseling. There are a handful of physicians who are credentialed in genetics, most of whom work in pediatric settings, and then there are also some nurses who are actually credentialed through the International Society of Nurses in Genetics. That’s how you get the Advanced Practice Nurse in Genetics, or the APNG credential, behind your name. So, those nurses have submitted a portfolio, and they have demonstrated that they have competence in genetics.
All nurses need to have competence in genetics; most will not actually practice it and order the tests, but they certainly need to know when and how to order the tests. The International Society of Nurses in Genetics has been issuing recommendations about this since 2007, and they have published the Scope and Standards of Practice. More recently, we now have a scope and standards for persons with graduate degrees as well—so there are lots of resources nurses can look to, to understand what the standards of practice are. Errors occur in genetic services when people fail to recognize the correct syndrome, or all of the possible less common syndromes, and fail to order the correct test, and that comes when people don’t really have a background in genetic testing. It’s much more complicated than, say, ordering a complete blood count.
Cancer Network: You mentioned resources, and at past ONS meetings and other national nursing meetings, there have been some excellent presentations aimed at increasing nursing competencies in genetics and genomics—including the International Society of Nurses in Genetics, which is celebrating its 25th anniversary this year. Can you talk a little bit more about some of these efforts, and any resources in particular that you would recommend for oncology nurses?
Suzanne Mahon: In 2007, the International Society of Nurses in Genetics, or ISONG, did publish the Scope and Standards of Practice, and that publication is readily available online, and nurses can look at it—and that is the scope that persons, whether they practice directly in genetics or not can use. The focus of that document is helping people to understand who should be referred on to a genetics professional for further service.
In the United States, we also have the Essentials of Genetic and Genomic Nursing Competencies, and there are some curriculum guidelines. Those were revised in 2009, and they’ve been endorsed by probably over 50 nursing organizations. And those provide some great guidance for our educators as to what we should be training the next generation of nurses in, so they know what to expect, but we still have a huge pool of nurses who have graduated long before these recommendations were made, so we have a lot of catch-up.
In 2012, the graduate competencies were released by ISONG, and they’re available online as well. They talk about things that persons who have a graduate nursing degree, both those who work in non-genetic areas and those who are specifically credentialed and trained in genetics should know. They look at things like risk assessment, what the testing process and counseling process should entail, how results are interpreted, ethical and legal considerations, what leadership roles nurses need to take in advocating for our patients so they get good genetic care, and how research should be conducted and utilized in the world of genomics.
So, there are some really great resources out there, and people really need to stop and think about their practice. And really the best thing for a nurse to say is, “You know, I think this is someone who has genetic risk. I’m going to refer him or her on to a specialist.” It is truly a place where you need to say, “This is out of my area of expertise,” and to refer persons on for more targeted genetic care .
Cancer Network: At what point in your career did you go for your degree and become an advanced practice nurse in genetics? Had you been a nurse for some time? What’s your personal history?
Suzanne Mahon: When I did my doctoral studies in the early 1990s, I did some extra course work in cancer genetics and tumor biology at that point, but you need to realize that in the early ’90s, we did not really know near what we know now about genetics. At that point, I decided to take a job running a community cancer screening program, and we had a component of genetics there.
And in the late ’80s/early ’90s, really we could only tell families they were at increased risk and identify them by pedigree; we really could not do much genetic testing. I did some additional post-doc work at MD Anderson revolving around cancer screening and detection, and then some independent study with Dr. Henry Lynch at Creighton University, in Omaha, Nebraska. So, there were opportunities for me to learn genetics.
The credential did not become available until many years after that. There are certainly ways that nurses who are out in practice who want to go back and get that credential can do it, but it requires additional education. There are some great, substantial continuing education programs for 40, 50, 60 hours. There’s one through the City of Hope that is very, very focused in genetics, and the National Cancer Institute also offers some extensive continuing education, but this is not just like a 1-hour seminar; people are committing to some substantial education and then mentoring with someone, so they can learn how to do risk assessment, construct a pedigree, interpret it correctly, order the correct test etc. So, there are certainly opportunities out there for people to educate themselves in genetics/genomics, but it certainly takes more than going to a 1-hour continuing education class to do it.
Cancer Network: Sure, and I imagine it’s something you’re always learning. You never really stop learning.
Suzanne Mahon: Right, well to maintain the APNG credential, there’s a requirement of, I believe it’s 50 continuing education hours in directed genetics curriculum and you resubmit your CV to show updates in and type of teaching, publishing. So, you can’t just get the credential and not keep up with the new information…you’re always a learner.
Cancer Network: Right, I guess that’s just what medicine is all about anyway, and nursing in general. I want to talk about direct-to-consumer genetic testing now. You wrote a very interesting commentary in the Journal of Oncology Practice last summer, in response to an article about the impact of direct-to-consumer genetic testing. In it, you noted that several professional organizations, including ONS, have issued position statements on the risk of direct-to-consumer marketing.
You wrote that, “Clinicians should not underestimate the impact and potentially negative ramifications of this practice in the realm of genetic testing for hereditary predisposition for a diagnosis of cancer,” and you went on to describe your personal experience with counseling women who had some devastating psychosocial consequences of well-intentioned direct-to-consumer testing related to BRCA mutations. What happened, and what are the lessons here?
Suzanne Mahon: Well, there are now ways that individuals can go online, and with a credit card, obtain a kit and send saliva to a testing facility, and have parts of their genome analyzed. Most of these are what we call SNPs single-nucleotide polymorphisms, so they’re just small changes in the genetic sequence, and the clinical ramifications of many of those are not known.
So, sometimes people just do this because it’s a curiosity. In one of the patients I wrote about, it was thought of as just kind of a fun present; the people were newlyweds and they were doing it just to see about their eye color and whatnot. It was well-intentioned and it wasn’t meant to cause harm.
The three founder mutations in BRCA1 and BRCA2 associated with Ashkenazi Jewish ancestry are included in there in the DTC test, and I have now had several patients whose reports have said that they carry one of those genes, or it’s suggested that they carry them, and certainly I went back and confirmed it in a reputable lab. But these people did this for fun, and all of a sudden realized that—I now have four women that I can think of in this situation—they have a 90% lifetime risk of getting breast cancer and close to a 50% lifetime risk of ovarian cancer, plus other relatives are at risk. Two of them really did not know anything about their ethnic background, and they were just completely unprepared for this.
If I were to see a patient and provide clinical care, we would have assessed that risk, we would have told her about the possibilities of testing, and the implications, for example if you test positive, we’re going to recommend prophylactic mastectomy. So she would have had all sorts of preparation and anticipatory guidance for what might or might not happen, and would be prepared and ready to deal with it. And she would have made the choice about whether or not she wanted to know that information.
When it comes to the direct-to-consumer route, people don’t really get any of that anticipatory guidance or preparation, so when the finding of a potentially harmful mutation occurs, they’re kind of unprepared for it. So, as far as the consequences just from a psychosocial point of view, these people are devastated. They’re not ready for it, they never anticipated that could happen, their relatives did not know it could happen, and so it has very far-reaching effects. And counseling is available for most of these DTC sites—you pay and you get 5 or 10 minutes or something, but it’s a much different process than when someone is sitting down with a counselor in a controlled clinical environment.
People aren’t ready for that information. It can be devastating, and as our technical ability and our understanding of the human genome increases, that DTC testing will become more and more available.
The troubling part is then, people show up at their primary care provider or to their nurse and say, “Hey, I got this DTC test or result, what does this mean?” So our challenge as health professionals is, first of all, if people tell you they’re thinking about doing it, we’ve got to educate them on the pros and cons of that DTC system and maybe refer them to someone who can give them a little bit of guidance, such as a genetics professional, before they test. But you also then want to know where to refer these patients if it a harmful mutation does occur, so they get the right support that they need even though it’s kind of in a backward fashion.
Cancer Network: Right, wow. So that’s a huge challenge already, and something that…
Suzanne Mahon: It will do nothing but grow.
Cancer Network: Yeah, right. Okay, well, thank you very much. This has been a really interesting conversation, and I appreciate your time, Suzanne.
Suzanne Mahon: Thank you for having me.
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