The ethos of the genetic counseling profession has always centered on the needs and experiences of our patients. Our focus on providing patient-centered care, delivering accurate risk assessments and navigating the diagnostic odyssey allows us to embody a distinctive role in the field of medicine. As providers, we are uniquely positioned to bridge the gap between groundbreaking treatment options and informed decision-making.

My first introduction to gene therapy in clinical practice came while counseling a young boy with an inherited cardiomyopathy. “Have you heard of this therapy? Does it work?” he asked. These were questions I was never prepared to answer in graduate school. How do you connect a patient to a clinical trial? How do you convey the complexities of the enrollment process, inclusion criteria and possible risks while balancing the potential benefits of receiving a potentially life-changing therapy? 

This patient’s curiosity, courage and trust in me prompted a key shift in my clinical practice. Through the experience of walking alongside this patient, I gained valuable insights that inform every conversation I have about gene therapy. 

As of this year, the FDA has approved 87 gene therapies, with dozens of additional clinical trials underway for conditions like Danon disease, arrhythmogenic cardiomyopathy (ACM) and other rare conditions. Most gene therapies target single-gene mutations, where a corrected copy of the gene can restore function. Since many gene replacement therapies use adeno-associated virus (AAV) vectors, it is also important to inform patients with preexisting antibodies that they may be ineligible, and some administration protocols require immune-modulating treatment.  

The patient who first asked me those questions was ultimately unable to participate in the interventional study, but the family remained motivated to learn more should a therapy become available. Their curiosity set the tone for proactive decision-making.  

Early evaluation of eligibility is critical; many trials exclude patients who have progressed too far. Thus, identifying candidates before clinical decline ensures they can potentially benefit.  Though complex, eligibility criteria can serve as an educational starting point, helping families understand how a gene therapy works and who can benefit. This can also empower earlier testing of at-risk relatives.

Providing clear guidance about the clinical trial process is equally essential. Families may not understand the nuances of what a clinical trial entails, and may have difficult questions:

• Is this a cure? How does a single treatment convey long-term benefit?
• What’s the difference between interventional and natural history studies?
• What are the costs of participating?

Explaining differences between trial phases, long-term follow-up expectations and the likelihood of inclusion are crucial to informed decision-making. In our case, we used ClinicalTrials.gov as a guide but also found helpful information through advocacy groups and industry-sponsored genetic testing programs. 

One of the biggest barriers to gene therapy remains delayed diagnosis. Many patients with rare diseases spend years seeking an answer, only to miss trial eligibility due to disease progression. A genetic diagnosis is the first step for trial inclusion. Today, industry partners offer trial navigation support and sponsored genetic testing to identify potential candidates for a therapy under investigation. 

Genetic counselors can and should highlight these programs to support access, especially for families with geographic or financial constraints. Patients who don’t meet interventional study eligibility might qualify for natural history studies, which run alongside many clinical trials. In my case, the patient enrolled in the natural history study which kept the family engaged with the site and streamlined reevaluation for participation as the interventional study progressed. 

While gene therapy offers potential for disease-modifying treatments, it comes with risks. Families need balanced, evidence-based information. The field is rapidly evolving, and the volume of new data can feel overwhelming. It’s critical to frame risks as part of informed decision-making, not deterrents. 

Known side effects can range from mild (e.g., fever, liver inflammation) to more serious immune responses (e.g., complement activation, or other type of severe immune response). Long-term data on durability is still being acquired in certain conditions. In some cases, experimental treatments may not work as expected, may not address every aspect of the disease or may require lifetime monitoring. Even when approved as a “one-time treatment,” patients may still need future surveillance or supportive care. 

Genetic counselors play a vital role in navigating this uncertainty. We translate emerging science into meaningful, values-aligned conversations that allow families to make decisions with clarity and confidence.  

Gene therapy is redefining how we approach genetic disorders, and our profession is more essential than ever in guiding families through this frontier. By educating and empowering ourselves, we are better equipped to serve our patients, their families and the rare disease community. 

If you’re interested in learning about industry-sponsored genetic testing initiatives, you can visit the Mission: Genome webpage to find out more. 

Abigail Yesso, MS, CGC

is a genetic counselor specializing in cardiovascular genetics at Texas Children's Hospital, where she helps patients understand and navigate genetic cardiovascular diseases. She is passionate about integrating new genetic research into clinical practice and advocating for her patients.