One of the most rapidly evolving intersections of technology and healthcare is in the clinical genomics space. We sought out Erica Ramos, President Elect of the National Society of Genetic Counselors, and a Staff Genetic Counselor at Illumina, the leading provider of NGS systems, to share her perspective. Thank you, Erica!
Question 1: What gets you fired up to go to work every day?
Erica: I’m in the incredible position of working both for Illumina, a company that is leading key areas of the genomics revolution, and holding a leadership role with the National Society of Genetic Counselors (NSGC). I love being on the leading edge, building opportunities to accelerate and facilitate change in the application of genetic information to health and wellness and making sure these advancements are integrated with access to quality genetic services, including genetic counseling. And I have to say – I can’t imagine having better teams of people to work with in both positions. They make it a pleasure to go to work every day!
Question 2: How has the role of a genetic counselor changed in the last few years? How will it further evolve?
Erica: There has been an incredible growth of genetic counselors in industry, from laboratories to biotech companies to entrepreneurial roles. I had the opportunity to talk about this on Mendelspod last year and one of my favorite parts was highlighting how genetic counselors can add value in every area of a company. When you can bring the voice of the clinician, the patient and their family further up the development pipeline, it supports the development of the best and most clinically applicable product. Clinical genetic counselors are also driving significant growth and change. Multiple subspecialties are incorporating genetic counselors with specific impact in cardiology, neurology and cancer. They are also innovating in expanding access by providing services like telegenetics, which makes genetic counselors more accessible to those who may live in rural regions, have difficulties with transportation or getting time off of work or other logistical challenges. Several studies have shown that people who have genetic counseling by phone report high levels of satisfaction and information retention so the quality of care persists whether by phone or face to face. Clinical counselors are also working with insurance companies to improve utilization management and partnering with technology companies to improve support for administrative functions so that they can spend more time with their patients.
Question 3: How has the clinical utility of NGS evolved?
Erica: The clinical utility of genetics has increased dramatically across the board and NGS has been a specific and dramatic accelerator in several areas. Non-invasive prenatal testing and rare disease diagnosis are two applications that have had massive impact in the clinical genomics space and would not have been possible without NGS. Both applications require looking at huge amounts of genomic data very quickly and inexpensively with clinical accuracy, which is what NGS has provided. In the rare disease space, clinicians no longer need to pick a handful of genes to test nor do they have to limit their testing to genes that are already associated with the characteristics they see in their patients. With exome and genome sequencing, they can query all known genes leading to a higher diagnostic yield than previous gene-by-gene approaches. Both have shown very quick adoption because they filled gaps left by previously available methods.
Another emerging application is in sequencing healthy individuals and population screening. This is an area that I’ve focused on since joining Illumina in 2012. Now that labs can test many genes simultaneously at the lower costs enabled by NGS, more people have taken advantage of testing. In several efforts to offer hereditary cancer risk screening to a broad population, labs have found that only half of the people who are found to have disease-causing, or pathogenic, mutations fit the standard guidelines for testing. That tells me that we can learn much more about the scope of genetic disease and the breadth of the clinical characteristics, even for conditions that we thought we understood well.
Question 4: What are the biggest challenges to the profession? How are professional societies preparing to meet those challenges?
Erica: Ensuring patient access to quality genetic counseling and testing services is on everyone’s mind and is a key strategic focus for many professional societies, including NSGC. Access is a bigger bucket than it might seem. It encompasses insurance coverage for genetic services, making sure that genetic counselors can get reimbursed for the services that they provide, reaching patients of diverse backgrounds and socioeconomic status who may need alternate service delivery models like telegenetics and many other issues.
NSGC is addressing these areas from multiple fronts. We have an Access and Service Delivery Committee, special initiatives on genetic counselor workforce and training, and ongoing efforts to educate consumers and other clinicians about genetic counseling and testing in healthcare.
Question 5: Does more information lead to better care, or confusion with patients and clinicians? Why?
Erica: I definitely fall into the “knowledge is power” camp. However, I may see that a bit differently than most. I don’t see genetic testing as the pinnacle of knowledge. For some people, it might be, and that knowledge may lead to incredibly beneficial changes in their healthcare, as when women find out that they have a genetic predisposition to breast and ovarian cancer and can modify their screening and prevention strategies to lower risk. However, the power can also take the form of a comprehensive and in-depth discussion with a genetic counselor. My colleague and Immediate Past President of NSGC, Dr. Jehannine Austin, gave a phenomenal presentation where she presented a case example in psychiatric genetics (where genetic testing has limited utility) and demonstrated how discussing the patient’s beliefs about genetics, inheritance and her disease changed her perspective on what she could control and how she could manage her health. Genetic testing may not always be the answer or what is needed, but high-quality, comprehensive and personalized education and information is!