The Value of Genetic Counselors for RUNX1-FPD and Rare Disease Care
By: Taylor Burg
What Is a Genetic Counselor?
A clinical genetic counselor is a specialized healthcare professional whose primary role is to help patients understand their genetic information and its meaning. To begin this certification, students must first apply and gain acceptance to a master’s degree program at an accredited university that offers a curriculum combining human genetics and psychosocial counseling.
Throughout this program, students complete two years of rigorous, hands-on training in both classroom and clinical settings. Following academic training, prospective genetic counselors must pass a comprehensive board exam, which certifies their expertise in both genetics and counseling.
The Core Responsibilities
Clinical genetic counselors’ day-to-day work can include:
Reviewing medical and family history to identify signs of genetic risks and conditions.
In RUNX1-FPD, patients are often referred after presenting with chronic thrombocytopenia (low platelet counts), unexplained bleeding or easy bruising, or a family history of blood cancers like leukemia. Genetic counselors pay close attention to these details in a family history, since they may indicate a suspicion for RUNX1-FPD.
Recommending and coordinating genetic testing that best fits the patient’s situation.
Often, a variant in RUNX1 is first noticed during cancer testing, such as from a leukemia sample. In these cases, additional testing is needed to find out whether the variant is germline (inherited and present in all cells) or somatic (acquired and only present in the cancer). Genetic counselors help coordinate this process, which may include specialized tests like skin biopsies to help tell the difference.
Reviewing complex lab results, researching their implications for the patient’s health, and then explaining the test results (whether positive, negative, or uncertain) in clear language.
Empowering patients to make informed decisions about their health, allowing them to manage their condition with autonomy and control.
Identifying at-risk relatives to coordinate “cascade testing,” a process in which other family members are tested to clarify who else could be affected. This helps families discern who needs specialized care.
In the context of RUNX1-FPD, cascade testing can be particularly crucial, as the condition is autosomal dominant, meaning that each first-degree relative of a person with RUNX1-FPD has a 50% chance of having the same condition.
The Role of Genetic Counselors in Rare Disease and RUNX1-FPD
Of all the spaces genetic counselors can work in, the rare disease space is one of the most profound. While genetic conditions as a whole are common, individually they are rare.
Because of this, the genetic counseling profession overlaps significantly with the rare disease community, helping to diagnose patients, directing families to pertinent resources, providing emotional and empowering support, and raising awareness and recognition.
Helping Navigate the Diagnostic Journey
Rare diseases, such as RUNX1-FPD, are often misunderstood and underdiagnosed. Due to their rarity and lack of awareness, many patients with rare diseases struggle with a long and frustrating diagnostic process before receiving their official diagnosis.
In order to receive an official diagnosis, patients must rely on professionals who have expert knowledge of these rare conditions, and genetic counselors are among these professionals. Their training in rare conditions enables them to recognize subtle signs that other healthcare providers may overlook, and to select the most informative tests that will provide answers to patients and their families.
Emotional Support
Receiving news that you or a family member has been diagnosed with a rare genetic condition is often overwhelming. A core part of a genetic counselor’s job is to offer empathetic, nonjudgmental support to patients and families in these moments. Their training ensures they can switch gears from a more scientific educator to a psychosocial counselor when emotions arise, helping families process their diagnosis at their own pace.
With RUNX1-FPD, the conversation often spans generations, as the condition can affect both children and adults. Genetic counselors help families process the weight of a diagnosis and guide decisions around the timing of testing and treatment.
Empowering Families
Every patient and family brings their own unique needs to a session. Genetic counselors tailor their support, some providing detailed action plans, while others focus on present needs and emotional reassurance, all depending on what the patient wants. They can also aid families in sharing their diagnosis with their relatives and community, to strengthen their loved ones' understanding of the condition and reduce stigma.
Resource Navigation
After a diagnosis, genetic counselors are pivotal in connecting families to crucial resources, particularly within the rare disease community. They help link patients to expert care teams specializing in the diagnosed condition, as well as to support groups and advocacy organizations that provide education, networking opportunities, and emotional support. This comprehensive approach ensures that patients never feel isolated and can access the most current and thorough care available.
For RUNX1-FPD, genetic counselors often collaborate with hematologists and oncologists who specialize in hereditary blood disorders. Some even work directly with advocacy organizations, such as the RUNX1 Research Program (RRP), and help route patients to this network so they can participate in research and connect with other patients and families who have this condition.
Advocacy and Awareness
Because rare genetic disorders are frequently overlooked, genetic counselors are driven to advocate for increased awareness among healthcare providers and the public. This can include participating in research initiatives to improve treatment and outcomes, and supporting patient organizations working to build community and resources. Some genetic counselors work directly with advocacy groups or participate in research aimed at shedding light on rare conditions and accelerating the development of new therapies.
RUNX1 genetic counselors are uniquely integrated into this advocacy network. Many are involved in patient consortia and collaborative research groups such as the RUNX1 and IHM Clinical Consortium convened and supported by RRP, contributing to studies designed to better characterize the natural history of RUNX1-FPD and improve clinical guidelines.
How to Prepare for Your Genetic Counseling Visit
1. Gather Detailed Family Health Information
Collect medical histories for as many close relatives as possible, including parents, siblings, children, aunts, uncles, and grandparents. Pay special attention to any instances of low platelet counts, easy bruising or unusual bleeding, diagnoses of blood cancers (such as leukemia) or any unexplained blood disorders, and skin conditions such as eczema. Gather past laboratory results (if available), such as complete blood counts (CBCs) or any genetic testing that has been done.
2. Make a List of Questions and Concerns
Jot down any questions or concerns about your own health or your family’s history. For example: “What are the next steps if I’m found to carry this variant?” or “What does a RUNX1 variant mean for my family?”
3. Prepare for Logistics
Bring a list of current specialists you see and any recent relevant appointments. Be prepared for potential additional testing at the appointment, such as updated Complete Blood Counts (CBCs) or platelet aggregation studies. Additionally, genetic testing could involve a wide array of sample types, so one can expect to undergo a variety of collection methods, such as blood, saliva, buccal, or a skin biopsy, depending on what is most appropriate.
4. Stay Engaged Beyond the Visit
Know that genetic information and guidelines are evolving. Ask how you can stay up to date and be prepared to reconnect with your counselor if medical or family circumstances change in the future.
Taking these steps will help your genetic counselor provide tailored, comprehensive care and ensure that you receive the information and support you need to navigate RUNX1-FPD or other hereditary conditions effectively.
About the Author
Taylor Burg is a Genetic Counseling Master’s Candidate at Stanford University. Prior to graduate school, she worked in bone marrow transplant, where she developed a deep interest in hematologic malignancies. Taylor is passionate about supporting patients and families navigating cancer genetics and rare disease, and she hopes to continue this work following graduation.