Genetic counseling is an integral part of advancing human genetics in medical care and vital to our collective research agenda. Recognizing this, ASHG took action last week in strong support of H.R. 7083, the Access to Genetic Counselor Services Act of 2018, which would expand access to genetic counseling services for Medicare beneficiaries. We took this action under the leadership of the National Society of Genetic Counselors (NSGC), and are proud to add our largest voice in the human genetics community to urge this policy change. NSGC is our valued partner on this legislation and other new programming to serve genetic counselors in research.
Specifically, I wrote to bill sponsors Representatives Erik Paulsen (R-MN) and David Loebsack (D-IA) expressing the Society’s gratitude for introducing this legislation and for seeking to resolve a problem that has existed for many years (see image). Currently, while genetic counseling is covered under Medicare, genetic counselors themselves are not currently recognized as providers by the Centers for Medicare and Medicaid Services, the federal agency that runs the program. This means that genetic counselors are unable to bill directly for any services rendered to Medicare beneficiaries.
H.R. 7083 is designed to resolve this coverage gap. If it were to become law, this bill would recognize licensed genetic counselors as Medicare healthcare providers, and further establish a path for Medicare reimbursement for other genetic counselors. In this way, it will reduce the access issues to genetic counseling services currently faced by Medicare beneficiaries.
For this bill to become law, it will need to be passed by Congress in the next few days. Given the many steps in the legislative process, this is highly unlikely. However, we hope that the legislation is re-introduced when the Congress reconvenes next year and that Congress advances it swiftly through the legislative process.
David L. Nelson, PhD, is the 2018 President of ASHG. He is a Cullen Foundation Professor of Molecular and Human Genetics at the Baylor College of Medicine, Associate Director of the BCM Intellectual and Developmental Disabilities Research Center, and Director of the BCM Integrative Molecular and Biomedical Sciences Graduate Program.
Guest Post By: Heather A. Zierhut, PhD, MS, CGC; and Adam H. Buchanan, MS, MPH, LGC
Genetic counselors’ advanced training in – you guessed it – genetics and counseling, plays a key role in healthcare. Genetic counselors can guide and support people seeking more information about how inherited diseases and conditions might affect them or their families, and help interpret test results. While many genetic counselors work directly with patients, others focus on research to help in the development of new or improved treatment or care for people with genetic conditions. In honor of Genetic Counselor Awareness Day on Nov. 8, National Society of Genetic Counselors (NSGC) members Heather A. Zierhut, PhD, MS, CGC, and Adam H. Buchanan, MS, MPH, LGC, share how their research is shaping the future of genetic counseling and precision medicine.
NSGC: What inspired you to be a genetic counselor?
Heather: I think there are two main categories of people who become genetic counselors: those who have a long exploration into the profession or those who have a light bulb moment. My entrance into genetic counseling was like a laser light show. My undergraduate genetics professor briefly mentioned the career. Like any good researcher, I went to my tiny matchbook size dorm room and looked up everything I could possibly find on the topic. Fireworks were going off in my mind. Genetic counseling was love at first literature search.
Adam: I’m one of those long exploration types. In college I cycled through several possible career choices. My career research was a great source of stories about the (sometimes gross) lives of a veterinary technician or hospital employee who cleans up after surgeries. But, nothing grabbed me until I worked with a genetic counselor while doing my thesis in a master’s of public health program. I loved the way genetic counseling combined the communication skills I was learning as a public health educator with the connections you make while interacting with patients.
NSGC: How did you first get involved in genetic counseling research?
Heather: Like many aspiring Principal Investigators, my gateway to research was undergraduate summer programs. I loved the idea of being able to set up experiments, ask questions, and get answers all in a three-month time span. But after experimenting in yeast and fruit fly labs, I found myself wanting to research something different. I switched gears to my ultimate organism of interest, humans. It all started with two genetics icons, Janet and Marc Williams, giving me a small research project looking at outcomes of early hearing screening tests. Even after making the decision to pursue genetic counseling, I never lost my desire for research. I searched for a training program where I could find mentors to support my interest in clinical care and research. The desire for research mentors was first and foremost in my decision to go to the University of Minnesota.
Adam: When my kids were little and their favorite question was “why?”, I knew they came by it honestly – it’s always been one of my favorite questions, too. As a genetic counselor I sought out ways to answer the whys that arose in my clinical work. Like Heather, I was fortunate to have colleagues willing to indulge those questions and a mentor who looked for opportunities to involve me in all phases of research during my research apprenticeship – including writing and reviewing manuscripts and learning the ins and outs of grant proposal preparation. So, when I was driving home from a rural cancer genetics clinic one day and had a light bulb moment about how to more efficiently improve access to care, I had the tools to turn that spark into a viable research project.
NSGC: What do you enjoy about genetic counseling research?
Heather: You either love and appreciate the ups and downs of research or you gut out the experimentation period in hope and anticipation of the day you get those final results. As much as I wish I could say that I love to stop and smell the research roses, I do not. I am a destination data person. Getting results is my favorite part of research. It’s like the best holidays all wrapped into one called Data Day. Knowing this about myself, I chose to pursue a doctoral degree in genetics and epidemiology with research projects that give me data sooner rather than later.
Adam: I’m totally with Heather on her love of Data Day. I also love thinking about the research process as crafting a story. If everything falls into place, you develop this beautiful narrative that arcs from why your research topic is important to patients all the way to how the study you’ve proposed will generate data that will help those patients. It’s a challenging process that takes a lot of tinkering and being able to communicate the big picture while having your details in order. That’s why it’s such great fun when it works.
NSGC:What advice do you have for aspiring genetic counseling researchers?
Heather: I shifted research directions completely after completing my PhD. The shift was the right direction for my newly developed skill set, but I needed help getting started. I reached out to people with expertise and asked them to assist me. I applied for numerous early investigator grants and was told repeatedly that I needed more experience in the field. Not letting it slow me down too much, I started collecting pilot data to build my case. Others in the field started to take notice and I was asked to be on several national committees. These combined efforts led to funding through the Jane Engelberg Memorial Fellowship, a grant intended to promote the professional development of individual counselors and to improve the practice of genetic counseling. This took persistence and a following a slightly different path than I had envisioned. My advice is don’t be afraid to take risks and get out of your comfort zone.
Adam: All research starts with a good idea. And our clinical experience can provide a wealth of research ideas. Pay attention to the whys that linger in your mind after seeing patients. Also, researchers fail. Sometimes spectacularly – unfunded grant proposals, rejected manuscripts, and studies that go off the rails. This is a particular challenge for the over-achievers who make up the ranks of genetics professionals. But, it’s an inevitable part of doing research that moves the field forward. Keep your head up, rely on the mentors Heather mentioned – they’re out there and they really do want to help – and learn from everything. Finally, find a research focus that gets you jazzed. It’s a lot easier to be persistent when you’re excited about your work.
NSGC: What genetic counseling research are you working on now?
Heather: My current research is on the vast under-diagnosis of familial hypercholesterolemia (FH) and issues that arise in communication of genetic information in FH families. There are 1 in 250 people out there with a treatable genetic cause of high cholesterol. It’s my research and my job to make sure that people with FH know the risks and have opportunities to prevent heart disease in their families. But as with anything having to do with families and communication, it’s complex. Our research team chips away at finding ways to screen families and help them become aware of their heart disease risks. We hope to give an opportunity to end the cycle of heart disease in their family.
Adam: I’m leading a group that was just funded by the NIH to study how children and their parents react to receiving genomic results for conditions that do not occur until adulthood (such as hereditary breast and ovarian cancer syndrome). There are lots of intriguing questions we’re hoping to answer in this study, particularly about the psychosocial impact of this information and how family members use it to guide their healthcare. It’s a topic that has been written about a bunch, but there’s barely any empirical data to guide whether and how to provide this information to families in practice. We’re looking forward to adding our story to the mix and helping families in the process.
Heather Zierhut is the associate director of the University of Minnesota Graduate Program of Study in Genetic Counseling and assistant professor in Genetics, Cell Biology, and Development. Current areas of research include the psychosocial and public implications involved with the provision of genetic counseling services, implementations of whole genome sequencing, and outcomes of genetic counseling.
Adam Buchanan is an assistant professor in the Genomic Medicine Institute at Geisinger, Co-Director of the MyCode Genomic Screening and Counseling program, and a member of the American Board of Genetic Counseling. His research focuses on access to genetic counseling and assessing behavioral and psychosocial outcomes of genetic counseling.
Guest Post By: Erica Ramos, MS, CGC, President-Elect, National Society of Genetic Counselors
As we observe the first annual Genetic Counselor Awareness Day on Nov. 9, I can’t help but be astonished by the changes in our profession and how they are shaping, and being shaped by, the exciting advances in how we diagnose and treat genetically-influenced conditions. As President-Elect of the National Society of Genetic Counselors (NSGC), I have never been more proud or excited to declare “I am a genetic counselor!” and share how we bring the voice of patients and clinicians to all areas and applications of genomics.
When I completed my genetic counseling training in 2001, I couldn’t have predicted that I would find myself working on the leading edge of clinical genomics. When I began working at a genomics biotechnology company in 2012, I was only the second genetic counselor on staff. According to the 2012 NSGC Professional Status Survey (PSS), a mere 0.5% of our profession was employed by R&D or biotechnology companies.
Four years later, the 2016 PSS showed this had doubled. Today, there are 17 genetic counselors at my company, working collaboratively with scientists, bioinformaticians, developers and executives, contributing our skills and expertise to areas such as medical affairs, market development, product marketing and strategic planning, and sharing the real-world impact that their work ultimately has on patients and their families.
Mine is just one example of genetic counselors’ expanding roles. We are leading patient-centered original research and are integral to Geisinger’s MyCode study, The Ohio State University’s Statewide Colon Cancer Initiative and All of Us, to name just a few. We are driving growth and change in clinic by branching into specialty areas including neurogenetics and psychiatric genetics. NSGC surveys tell the story: In the 10 years leading up to 2016, the number of specialty areas where genetic counselors work went from 14 to 33, a 135% increase.
Vast and exciting career opportunities are fantastic for the genetic counseling profession and ensure a bright future for those entering our field. But as good as this trend is for our profession and the 4,000 certified genetic counselors in the U.S., the benefits are even greater for other genomics professionals and, critically, to patients.
Genetic counselors have deep scientific and medical knowledge. Paired with our communications and counseling skills, we are a valuable resource in translating research advances in genetics and genomics to healthcare providers and patients. As media coverage of these advances expands, providers and patients often have questions about how these new discoveries impact their care. We unravel the complexities of research so that clinicians and patients receive clear, accurate and digestible information, regardless of their culture or background.
So, here’s to Genetic Counselor Awareness Day! Working together to improve appreciation and understanding of how we and our partners in genomics empower patients and their healthcare team and provide them with ever improving personalized attention and care.
Erica Ramos, MS, CGC, is President-Elect of the National Society of Genetic Counselors (NSGC). She has been a member of ASHG since 2014.
We sat down with ASHG member Karlene Coleman, BSN, MSN, CGC, AGN-BC (Advanced Genetics Nurse – Board Certified), to learn more about her work providing genetic counseling, running a specialty clinic, and educating health professionals.
ASHG: Tell us about your position and how it fits into your institution and its goals.
Karlene: My position has two main parts: the first is that I follow up on and provide genetic counseling for genetic testing ordered through the Marcus Autism Center, which is the largest clinical center for autism care in the U.S. Second, I created a specialty clinic for 22q11.2 deletion back in 2006, and we have now seen over 700 families. I also give lectures in multiple training programs at Emory, including the Schools of Medicine and Nursing.
ASHG: How do you keep up with the latest in genetics science and use this in your work?
Karlene: I am a member of ASHG and the American College of Medical Genetics (ACMG), so I attend the annual meetings for both and read many journal articles from each. I also get GenomeWeb alerts. In addition, I am a member of the International Society of Nurses in Genetics (ISONG), and use their newsletters and webinars.
ASHG: What are your favorite genetics websites?
Karlene: Of course I use OMIM, GeneReviews, and Genetics Home Reference at NIH regularly. I also use a new site called ThinkGenetic, developed by a colleague at Emory, which is to help educate families and guide them through symptoms to come up with questions for their doctors or to self-diagnose genetic conditions.
ASHG: What are you currently reading/thinking about?
Karlene: We are using developmental questionnaires in our 22q clinic to identify the needs of the children over time, and we just submitted an abstract to ASHG 2017 looking at the reliability of these measures.
ASHG: What everyday thing are you better at than everyone else? What’s your superpower?
Karlene: Serving as a resource for people all over the region on what to do and where to refer when they need to help specific patients. I just got a call yesterday from one of our physician liaisons after I had given them a lecture several weeks ago, and they are already calling to make referrals. It’s great!
Karlene Coleman, BSN, MSN, CGC, AGN-BC, is a Clinical Nurse Coordinator at the Marcus Autism Center at Children’s Healthcare of Atlanta. She has been a member of ASHG for over 20 years.
Karen Hanson (right) and Director of Education Michael Dougherty, at the ASHG booth in the ACMG Exhibit Hall.
Apparently, we are sequencing everyone – sick people, healthy people, adults, children, babies, and fetuses. The inspiring talk by William Gahl, MD, PhD, NHGRI, NIH about the work of the Undiagnosed Diseases Network (UDN) reminded us all of why we (researchers, clinicians, laboratorians) entered this field. This session showcased what could be thought of as the most traditional use of WGS/WES in the clinic: using advances in genomic sequencing to improve diagnostic outcomes in patients with suspected genetic disease. It’s now less likely that patients and families will struggle without a diagnosis for years.
Infants born with congenital anomalies or metabolic disease are also benefiting from rapid sequencing technologies that allow their physicians and families to quickly treat and manage them. And it’s not just ‘sick’ babies that are being offered sequencing. Several clinical trials are looking at the efficacy and outcomes of sequencing ‘healthy’ newborns. For years, the genetics community has talked about when the day would come that all newborns have a ‘genetic’ barcode (consider that the movie Gattaca turns 20 this year!). Newborn screening programs have already expanded to include dozens of carefully selected disorders, and WES almost seems like a logical next step. However, in at least in one clinical trial, the majority of parents of healthy newborns who were offered WES declined testing. So maybe we are not quite ready yet.
Another session was devoted to genomic sequencing in ‘healthy’ adults. The current scientific atmosphere certainly seems right for this, when you consider the advances in sequencing technology, the rapid growth of variant databases, and the push for personalized medicine. It did occur to me that we haven’t really worked out the ethical and logistics dilemmas we encounter through WGS/WES of ‘unhealthy’ individuals. However, to paraphrase Les Biesecker, MD, FACMG, NHGRI, genome sequencing is here and it’s not going away. The dilemmas associated with sequencing ‘healthy’ people are not new – variant classification, not enough genetic professionals, health provider education, and access to diverse and underserved populations. But overall, the intention is good – to use genomic technology to improve health and patient care. Which for me begs at least one question: who’s going to manage all these ‘patients’? After all, we will all be ‘patients’ after we get our WGS test results.
So, as a genetic counselor working on health professional education at ASHG, I think of all this as job security. My job – our job as geneticists – is cut out for us. We need to educate our medical workforce and all the rest of the ‘patients’ out there about genomic medicine. And who better to do it then those of us who have been and still are in the trenches.