The Crucial Role of Genetic Counselors

What does a genetic counselor do and what role do they play in helping families get a genetic diagnosis?

In the conversation around genetics and precision medicine, genetic counselors are a critical component that can’t be overlooked. They are the voices operating outside the lab, bridging each patient and family’s reality with the medical results they may be receiving. At Children’s Hospital Colorado, genetic counselors are embedded in a variety of specialties, providing families with tailored knowledge and expertise that helps them through the process of a genetic diagnosis.

Charting a route through the diagnostic odyssey

When Shay Guetz-Lindahl, MS, was young, she wanted to be a teacher. That changed when her sister’s lifelong chronic illness worsened and her family began working with a genetic counselor. Through her sister’s journey, she found a new career path. She now serves as a genetic counselor at Children’s Colorado — the very place her sister received care.

“My sister was a huge driving force that got me into genetic counseling, and then she spent so much time here at Children's Colorado, and she actually passed away here back in December of 2020,” Guetz-Lindahl says. “Being able to come back here, give back to the community that really was a huge part of her life, and stay local and honor her legacy is really exciting for me.”

Today, Guetz-Lindahl’s work is divided between the Department of Pediatric Otolaryngology’s hearing loss team, the Ehlers Danlos Clinic and the General Genetics Clinic, where she is dedicated to helping patients and families navigate genetic testing and genetic diagnoses, not just from a medical perspective, but also from a psychosocial one.

While some patients Guetz-Lindahl sees are flagged early for additional testing (through newborn hearing screenings, for example), many don’t meet her until they are well into a laborious journey she calls the diagnostic odyssey. This is especially common for the kids and families she meets in the Ehler's Danlos Clinic. 

“These patients tend to have seen lots of different providers, and they've spent years and years and years trying to better understand what's going on,” Guetz-Lindahl says.

Her job is to help them chart a clearer, more approachable path that hopefully culminates in answers. That means working directly with insurance companies to get approvals and coverage for tests, collecting a deep family history to begin building context for genetic results, connecting families with hospital resources such as health navigators and more.

“We work with families to understand how they're feeling about genetic testing, to help describe in patient-friendly language what genetic testing would look like, what genetics is and what we're actually looking for in testing,” she explains.  “Then after testing, we chat with families about what a genetic test result means — whether it's a positive result and indicates the presence of a genetic disorder that explains symptoms or an uncertain result where we still need more learning and research to better understand.”

Even though not every family gets a clear-cut diagnosis and even fewer get a curable diagnosis, Guetz-Lindahl says she still sees the comfort and peace her work provides for patients and caregivers.

“It's always a really special time to be able to give a family a diagnosis, even if it's not something that we were hoping for, even if it's something that we find to be a devastating diagnosis,” she says. “It’s having the peace of mind that there isn't that question anymore. A lot of families find that to be something that gives them a lot of peace, and being able to give that kind of peace is really special.”

Genetic counseling in high-intensity environments

At Children’s Colorado, genetic counselors are embedded across specialties, units and departments, developing expertise and meeting patients and families where they are. For Sara Gracie, MS, that’s the inpatient unit.

The logistics of being a genetic counselor on the inpatient unit are unique — high acuity, high intensity and often urgent. While some genetic counselors have the benefit of scheduling visits with patients who are prepared to learn about genetics, Gracie is usually catching families in an entirely different scenario.

“I'm walking into a room based on when we've got called for consultation and when the family is at bedside,” she explains. “The family may or may not have been told that we were consulted. And then we are having to have these difficult conversations about genetics and these far-reaching impacts to the family when your child or baby is laying in the ICU and you're really just focused on the here and now.”

In those tough moments, with machines beeping and emotions high, Gracie views her job as a communicator or translator, helping families understand what’s happening and why. She explains what genetic testing is, when and how it may happen and the potential impacts.

“The way I look at it is people are going to go through this regardless, and by being a genetic counselor, I can help make it more understandable, explain it in a way that they understand better, that's less scary, that's maybe less technical and full of medical jargon and takes into account the emotional impact that this is having on you and your family,” she says. “That's why I love doing this — we really get the opportunity in our role of being that person that can really connect with families.”

In fact, Gracie adds, she’s often one of the constants in a family’s inpatient journey at Children’s Colorado. When patients have lengthy stays, their clinicians and nurses may change, but their genetic counselor stays, remaining available as long as they are in the hospital.

Her work is not isolated to families alone; Gracie and other genetic counselors work closely with each patient’s entire care team, including geneticists, specialists, nurses and doctors. This collaboration allows for a meeting of minds that truly benefits each patient.

“When results come back,” Gracie says, “we sit down as a team and are able to make an assessment. Sometimes we need to go talk to the primary team or one of the subspecialty teams. It ends up being a really collaborative effort with providers around the building.”

Counseling families through the first days of life

Not every genetic diagnosis requires an odyssey. Some are flagged right after birth through the Colorado Department of Public Health and Environment’s (CDPHE) newborn screening program. At Children’s Colorado, Erica Wright, MS, CGC, has the critical role of ensuring each newborn that screens positive for an inherited metabolic disease gets the necessary follow-up testing.

In her more than 20 years at Children’s Colorado, she’s had a front row seat to the medical and technological improvements that have led to quicker diagnoses and more treatment options.

“In 2006, for example, we saw an expansion of newborn screening because of technological advances. Overnight, we went from screening for just three inborn errors of metabolism to adding close to 30 new disorders,” Wright recalls.

Wright is contracted with the Colorado Newborn Screening Program that is administered through the CDPHE to report all newborn screens that are abnormal and may indicate an inborn error of metabolism. That amounts to 300 to 400 newborns each year. Whenever the team receives abnormal results, those are delivered to a family’s primary care provider, who shares the news. From there, Wright steps in to be the family’s partner during the next steps. Those next steps are carefully defined by the screening program, and Wright is an expert in helping families get the tests they need to confirm a diagnosis and streamline care.

“My role is offering consultation to the primary care providers, as well as parents, to guide them through that confirmatory process, and making sure that we can coordinate our recommendations for follow-up studies for all of our families, regardless of whether they're in the metro area or they're in the more rural settings of Colorado,” Wright says. “And then I also have to ensure that those studies get done in a timely manner and most importantly, once they are completed, working with our team to determine whether this patient needs to be seen by our clinic.”

These conditions are generally rare, and often, parents and caregivers have never heard of them. One such condition is phenylketonuria, in which the body is unable to process phenylalanine, an amino acid found in protein. Left untreated, the protein builds up in the blood, contributing to developmental delays and intellectual disabilities. With so much on the line, quick diagnosis is critical, but that often leads to difficult conversations.

“When results are being delivered within those first few days of life to these families, the amount of anxiety and fear that come along with [are high],” Wright says. “This is unanticipated news that we're delivering to the families. Newborn screening is done as a population-based public health initiative. And so, families are not expecting this news.”

During such an emotional and intimidating time, Wright is there to provide the psychosocial support each family needs to move forward. “I have the opportunity to be able to speak to families early on in the process to just be able to explain, most importantly, that these disorders are things that are treatable and that the goal is to really determine whether or not their newborn has this condition so that the right steps can be taken to get those families to the care they need,” she says.