3 Ways Genetic Counselors Support Your Health Care

Only 20 years have passed since the Human Genome Project in 2003 finished sequencing the entire human genome.  

Unlocking the long, complex code of human DNA — our chemical blueprint — meant that scientists and healthcare professionals could examine each person’s unique DNA to predict and prevent diseases, including cancer, and tailor treatments to individual patients. 

 Genetic counselors help interpret results from genetic tests, which have evolved greatly in the past few decades. Many Exact Sciences tests deliver results based on patients’ individual genetic information. Genetic counselors thread throughout our organization to collaborate with and support healthcare professionals who choose our tests for their patients’ care.  

Our genetic counselors work across the cancer continuum, from helping people understand their risk of developing inherited forms of cancer (the Riskguard^TM hereditary cancer test) to helping patients and physicians make informed choices about cancer treatment (the Oncotype DX® precision oncology tests and OncoExTra^TM genomic profiling test).  

In addition, PreventionGenetics, our subsidiary company, offers sequencing and tests for nearly all clinically relevant genes, with genetic counselors on hand to advise providers on test selection and to help them interpret results. 

Here are three things these professionals want you to know about this exciting, evolving field: 

Their job is like working a puzzle. 

Deborah Hartzfeld, senior genetic counselor: “A part of my job involves evaluating genes to include in a test. We want test results to deliver answers leading to action. For example, a positive result may explain why you and family members have certain cancers. It may help your healthcare professional understand your risks for cancers and how to manage that risk by screening and preventative options or how to best treat a cancer. 

“A healthcare professional wants to use all the information available to manage care. It’s more than the genetic test result. By integrating test results with personal and family history and environmental factors, we can better assess risk, leading to personalized care. We strive to clearly communicate the broader picture for the benefit of the patient and their family.” 

Craig Adamski, senior medical science liaison: “We know there are a lot of factors that go into our health and well-being. One of the big ones is our DNA, our genetics. We may be predisposed to certain conditions because of changes in the genes we carry. For some people, knowing and understanding that information might prompt them to change their lifestyle, change how often they see a doctor, make many different choices. It really can directly impact somebody’s day-to-day living.” 

They’re here to help make complicated things simple. 

Megan Nelson, senior laboratory genetic counselor: “Genetic counselors are in a unique situation in that we have medical science training and also a lot of clinical experience and training. We understand genetics, and we also understand what it’s like being an ordering provider and counseling patients on the results that we’re issuing. For that reason, we provide a much-needed voice in the industry. 

“A genetic counselor is a translator. We translate between healthcare professionals and the lab and vice versa. We communicate in a way that is collaborative and interdisciplinary so we can hopefully make the biggest impact for patients at the end of the testing experience.” 

Adamski: “Because genetics is so complex and complicated, and because there’s a lot of confusion about genetics and inheritance, we help break that down in a way that’s easy to understand so that providers can convey that information to their patients, and patients can then convey that information to their families or loved ones. As interpreters of genetics and genetic testing, we’re helping people understand genetic disorders, testing for genetic disorders, and how genes and DNA work in the body. That helps people understand testing results, as well as a test’s limitations.  

“We don’t tell anyone what they should do. We’re trained to be non-directive. We give information and answer questions, and then providers and patients decide what they want to do with that information. We’re a resource for interpreting and understanding.” 

They support patients by supporting healthcare professionals. 

Eryn Mares, lead laboratory genetic counselor: “Say a family has a child that has had developmental delays that aren’t seen in their other children, and they’re wondering why. Genetics may give them an answer. It can guide treatment down the road. Or if someone gets a result showing they are likely to develop Alzheimer’s disease, they can make more informed decisions about family planning or financial planning. When families know why something is the way it is, they have more information for making choices. The information we provide can help with that. 

“Having that clinical background and seeing the patients going through this process, you really carry that with you, even if you’re now working in the lab. You’ve interacted with people who have been in the same boat as the people that you’re performing testing for now.”  

Kelly Roche, regional account manager: “I’m a trained genetic counselor working on the business side of things. There’s a lot of value in being able to bring that perspective to a sales team that is talking to genetic counselors in the clinical setting. It’s also a great reminder that there’s a patient on the other end of every sample, and we keep that top of mind when making business decisions.” 

Natalie Jacob, lead laboratory genetic counselor: “In the lab, we find ourselves in a lot of scenarios where we’re advocating for patients, checking into what’s going on with the sample or what stage it’s at. We’re always keeping that clinical urgency in mind, whether or not we know the reason why a test was ordered. Somebody’s relying on these results, which could change their lives and their family’s lives.” 

Nelson: “We’re fierce advocates for patients. Even though we’re not seeing them in person, we’re doing whatever we can to improve lab processes or to improve how we’re communicating with healthcare professionals. Every step of the way, everything that we do is to help impact and improve the care for the patients that we’re serving.”