That’s where genetic counseling comes in. Learning of a genetic mutation may involve choices that are irreversible, with consequences not just for the individuals tested, but their family members, partners, children, and friends, too. The decisions that come with confirmation of a genetic mutation for hereditary breast and ovarian cancer (HBOC), for example, may include prophylactic surgeries, chemoprevention, and diet and lifestyle changes.
Such decisions can have profound physical and psychological effects on a person’s body image and identity; dating, marriage, sex, and childbearing; and work and leisure activities. They may come with a range of emotions as well, including anger, fear, guilt, grief, loss, and despair.
In addition to hereditary cancers, genetic counselors work with individuals diagnosed with (or testing for) hereditary cardiovascular disease, rare recessive disorders, pharmacogenomics (i.e., medication response), and other disorders like Alzheimer’s, Parkinson’s, macular degeneration, and celiac disease. Test types can be diagnostic, predictive, carrier, preimplantation, prenatal, and even newborn screening.
November 4, 2021 is the Fifth Annual Genetic Counselor Awareness Day. Sponsored by the National Society of Genetic Counselors (NSGC), the event aims to raise awareness and interest in the field and help consumers understand the important role genetic counselors play in healthcare teams.
The 2020 event included a kickoff on Facebook Live with NSGC president Gillian Hooker in addition to a Twitter trivia challenge, a webinar presentation, and the release of the latest episode in the NSGC podcast series. Powerpoint presentations, sample social media messages and graphics, and other resources were also available for download and sharing. Check out the NSGC education and events page for information on the 2021 event.
Genetic counseling is a career on the bleeding edge of biomedical science. Discover what to expect from the day-to-day life of a genetic counselor through an expert interview with Color’s former head of clinical services, Lauren Ryan.
Made for this Work: Lauren Ryan Lands Her Dream Job
A certified genetic counselor and former head of clinical services at Color, Lauren Ryan describes how she came to the field. “I knew I wanted to help families because of my personal background, and I loved science, but I was struggling to find a career path that would combine those two things,” she shared.
After a genetic counselor gave a guest lecture to her undergraduate genetics class, she knew she had found her calling. “I actually wrote down in my notes that day, ‘This is what I’m going to do with the rest of my life.’” By the end of that week, she was shadowing and volunteering in a clinic and has never looked back.
Ryan’s professional career began in a clinical setting, working as a genetic counselor and breast health specialist for Athena Breast Health Network in conjunction with the University of California San Francisco’s Cancer Risk Program. In this position, she conducted genetic testing and counseling and provided personalized breast cancer risk assessments and psychosocial support to women at high risk. She also assisted in the design and implementation of the program and participated in statewide continuous quality improvement of the risk assessment process.
In speaking about her work, Ryan emphasized that genetic counseling involves giving people genetic information and the tools, understanding, and comprehension needed to make the information actionable. To accomplish this, genetic counselors draw heavily on teaching skills honed during their degree programs and clinical experiences.
Ryan explained, “Genetic counselors are specially trained in taking complex concepts and breaking them down into language that people can understand, so they can actually use it and make it meaningful for them.” She continued, “A lot of genetic counselors have a passion for teaching and education, and it’s a huge component of what we do regardless of what role you’re in. Some genetic counselors even come with an education background.”
Going High-Tech: Genetic Counseling at a Health Technology Company
In early 2015, Ryan joined Color as its first full-time genetic counselor, four months before the health tech startup actually launched as a company. She explained that everyone wore many different hats at the time. Her work included everything involved in getting the genetic counseling and customer support services established—from setting up phone lines and email to collaborating with designers and engineers on the software needed to provide genetic counseling services.
Other aspects of her work entailed creating content for the clinical reports being issued, which meant taking the information from raw sequencing data and communicating it to Color’s clients. For Ryan, using her expertise in this new setting was exhilarating. She loved the fast-paced, dynamic environment and that each day brought new challenges and evolving expectations.
Elaborating on her excitement about taking her career in this direction, Ryan explained,
One of the coolest things about being a genetic counselor at a startup is getting to work with a really wide variety of professionals and specialities. I never worked before with anyone who was a user experience designer or a software engineer or a product manager, and most of them—most of the people who created Color—had never worked with a genetic counselor before. So it was an opportunity for me to both learn a brand new language and also teach a brand new language.
The learning curve was sometimes steep for everyone involved. For Ryan, it was in the area of technology, and for many of her colleagues, it was in her area of expertise: genetics and patient care.
She explained that teaching skills were essential to the successful launch of the company: “I was using those skills to translate the idea of genetic counseling to the people I was working with before we ever had any patients.” She added, “There was sort of a back-and-forth between the specialties, and it really expanded my knowledge about the ways that genetic information can be accessed by people, and also it helped me feel valued because my expertise was really put to good use by the founders and early employers of Color.”
Five-and-a-half years later, Ryan is now head of clinical services. While her role is largely spent facilitating and managing a team of genetic counselors and clinical pharmacists who provide consultations by phone to Color’s clients, she still has contact with patients. Counseling over the phone is different than in person, Ryan explained, but it still gives her the “soul-nourishing experience” that she got when working in a clinical environment.
The primary responsibility of the genetic counselors Ryan oversaw at Color included providing these telegenetic counseling sessions, which are included in the price of the Color test. This is one of the things that drew Ryan to her position at the company: the use of genetic counseling to drive informed care. This entails talking to Color users and walking them through their reports, answering their questions, helping them understand the implications for their own healthcare and for their families, and getting them connected to the resources they need to take action.
Other aspects of the work genetic counselors do at Color include:
- Customer support – Talking with patients and their providers about questions they have when they call or email in
- Content creation – Using those education skills to create content that is clinically valid but also simple and easy to understand (e.g., an article, a research report, etc.)
- External operations – Providing technical expertise in genetics and clarifying how Color’s products can be useful
- Research projects and product discussions – Acting as an internal consultant so that the clinical experience of the patient is represented even when a new project, product, feature, or service is being discussed
Genetic Testing for All?
In terms of ethics and advocacy in genetic counseling, Ryan was passionate in her response, expressing her excitement at the opportunity to help usher in the new era of population genomics. She is firm in her belief that situating genetic counselors as the experts guiding patients through the process is a crucial part of bringing genetic testing to the masses—and that doing so will require some shifting of how we think about ourselves.
Questions surrounding greater access to genetic testing include:
- What does it mean to support entire populations as opposed to select groups?
- How will we deal with the demand—which will be enormous—in responsible and thoughtful ways?
Ryan’s stance is clear: “We need to make sure that we’re supporting people through the entire journey—not just getting them the information.” She emphasizes the importance of entering into the era of population genomics, with genetic counselors as the experts in the center.
How to Increase Access to Genetic Counseling Services
Historically, genetic testing has tended to be infrequent and reserved for a small group of people: members of the more privileged segment of society (which tends to be caucasian, highly educated, well-insured, and of high socioeconomic status); people who have already had a diagnosis (or a suspected diagnosis) and are looking for genetic confirmation; and individuals who have very strong indications for a genetic disorder based on family history, for example.
However, even individuals in the last two categories—those who are sick or at very high risk of developing a hereditary disease—have often been unable to access genetic testing due to the cost.
One of the main reasons Ryan was drawn from working in a clinic to a health technology company was how painful it was having to turn people away from genetic testing because they couldn’t afford it. She related that as recently as five years ago, there were still huge barriers to affordability: patients being denied coverage based on age at diagnosis (46 vs. 45!); patients who were underinsured and could not cover high copayments or deductibles; and patients who had no insurance at all.
The options for doing genetic testing usually involved at least a few thousand dollars, and so if people didn’t have that—on top of all of their other medical bills because they were just diagnosed with cancer—I had to tell them, ‘I’m sorry, but there aren’t any options for you.’
It was the introduction of companies like Color that changed that conversation, providing a low-cost and easy-access way to get genetic information. After supporting patients through such excruciating situations, Ryan is thrilled to be part of a solution to the problem of access, providing actionable health information for many more people.
But, there is still work to do in order to expand access responsibly.
Increasing Awareness of Genetic Counseling Services
Embedded in expanding access to genetic testing and counseling services is the need to increase awareness. Education on the purpose and value of genetic counseling is needed within the general population, along with the differences between direct-to-consumer vs. consumer-initiated genetic testing. Ryan explained,
A direct-to-consumer definition is that there is not a physician involved in the ordering process. All Color tests are physician-ordered. From a regulatory perspective, that’s how they make that distinction. If you as an individual can order it for yourself, it’s considered direct-to-consumer.
It’s important to note that Color delivers consumer-initiated, physician-ordered testing, and as mentioned above, genetic counseling is included in every purchase. Another important distinguishing factor is Color’s use of next-generation sequencing technology. Their population panels sequence the full gene from beginning to end, as opposed to other technologies that look for a subset of very specific mutations and then miss the ones in between. Ryan added,
This has been found to happen in some of the direct-to-consumer tests currently on the market where the technology being used is very limited, and so a large number of people who have some kind of hereditary disease, like hereditary breast and ovarian cancer, will be missed by those technologies because they’re only looking for a small set of mutations.
The same will be true for undiagnosed individuals at high risk for such illnesses. This kind of limited testing can give individuals a completely inaccurate measure of their likelihood for serious illness and rob them of the opportunity to take preventive measures before it’s too late.
This brings us full-circle, back to the importance of the genetic counseling piece in this equation. Patients and providers consulting with a genetic counselor have the chance to explain their needs—what exactly they are testing for—and get guidance on what test is appropriate. Ryan further clarified,
There are genes that are not on Color’s panel, and there will of course be people who are looking for a very specific disease. We want to make it really clear that those people might need to speak to their provider about doing additional genetic testing because it’s not what the Color test is designed for.
The National Society of Genetic Counselors (NSGC) issued its official position statement on at-home genetic testing in June 2019. It advises consumers to carefully weigh the limitations, risks, and psychological implications of genetic testing for themselves and their loved ones before the purchase of an at-home genetics test (direct-to-consumer, consumer-directed, or consumer-initiated) without the guidance of a clinical genetics provider.
They also advise consumers to “use only clinical-grade testing interpreted by healthcare professionals with genetics expertise to inform decisions about preventive care, diagnosis, or medical management;” individuals who are unsure whether their at-home genetic test results qualify as clinical-grade should seek the guidance of a clinical genetics provider for genetic counseling before and/or after testing.
The NSGC also urges companies providing such services to:
- Help consumers understand genetic test results and potential healthcare implications within the context of family and medical history by offering genetic counseling or independent genetics expertise
- Ensure consumers understand the accuracy and reliability of all the information generated through the testing.
Because raw data may have serious limitations (e.g., false-positives and false-negatives), test results, including genetic variants identified in raw data files, should be confirmed in a clinical laboratory and reviewed with a genetics specialist before being used in healthcare decision-making.
The Future of Genetic Testing & Counseling
In looking towards the future of the field, Ryan points to the four strategic initiatives adopted by the National Society of Genetic Counselors, which highlights the need for:
1. Increasing access to genetic counselors through federal recognition, state recognition, and increased awareness initiatives
Proposed in June of 2019, the Access to Genetic Counselor Services Act of 2019 (HR 3235) provides coverage for genetic counseling services under part B of the Medicare program.
Ryan explained that,
Addressing our recognition as providers at the federal level is really important. Without reimbursement from Medicare, we’re not going to be able to access populations who utilize Medicare, which are largely elderly, people with permanent disabilities. Those communities deserve genetic counseling, but they’re not able to access it right now because Medicare doesn’t reimburse for it.
2. Adapting delivery models to meet the needs of entire populations
As we usher in the era of population genomics, Ryan emphasized the importance of:
- Increasing the rate new genetic counselors are educated by adapting current models to meet the increasing demand
- Using software to increase efficiency and expand capacity, enabling more patients to be served in a given time frame
- Developing creative solutions to broaden the field’s reach.
3. Addressing diversity and inclusion issues within the workforce and increasing the diversity of the profession
As population genomics continues to expand access to genetic testing, the goal is to reach individuals and communities representative of the diversity of the nation. In turn, services will need to be more inclusive and equitable.
Increasing the diversity of the profession, which is currently 95 percent female and 92 percent Caucasian, will be a vital component. According to Ryan, “If we ever hope to be able to address the needs of the communities we are striving to serve in this new era, we’re going to have to take a look in the mirror and work very hard.”
4. Research and data collection
Last, Ryan emphasized the need for ongoing and continuous research. Genetic counselors need to know what people do with their genetic information, what kind of decisions they make, and what kind of factors go into those decisions. This means researching the outcomes of large population initiatives. Access barriers need to be documented and then researched in order to find ways that new models and initiatives can impact those outcomes. She explained,
This is a new kind of target audience. We need to understand how we can best support people once they’ve gotten their genetic information so that they can take action on it and make it meaningful for them and for their families. We can’t do that unless we collect and track the data and iterate over time.
The Right Fit: A Career in Genetic Counseling
The evolution of Ryan’s career has clearly landed her in the right place: “I’m so fortunate to be able to work on something that every single day utilizes my talents and skills, rewards my passions and the things that matter the most to me, and gives me the opportunity for that perfect overlap between doing what I’m good at and doing what I love—and feeling like I get to make a difference.”
Cevia Yellin
WriterCevia Yellin is a freelance writer based in Eugene, Oregon. She studied English and French literature as an undergraduate. After serving two years as an AmeriCorps volunteer, she earned her master of arts in teaching English to speakers of other languages. Cevia’s travels and experiences working with students of diverse linguistic and cultural backgrounds have contributed to her interest in the forces that shape identity. She grew up on the edge of Philadelphia, where her mom still lives in her childhood home.