The article below reflects the personal opinions of the author(s) and does not reflect the views or opinions of the Perspectives editors or committee, or the National Society of Genetic Counselors (NSGC).
Article co-authored and provided by BioMarin as part of a paid partnership with NSGC. The content, views and opinions expressed in this article are those of the authors, and do not necessarily reflect the opinions and views of the National Society of Genetic Counselors.
As genetic counselors, we are aware of the speed at which our field evolves. It is easy to reflect upon how ordering genetic testing and our counseling strategies have evolved in just a handful of years. We must now contend with a new frontier as our field advances: the growing number of therapies available to treat genetic syndromes. Genetic teams are no longer tasked with ordering a test and making a diagnosis; our field is quickly learning how to become treatment providers. This puts genetic counselors at a crossroads. As treatments come to market, few genetic counselors will prescribe or manage therapy. Thus, our field needs to reflect upon how we remain essential members of a care team. We argue that our ability to partner with different stakeholders in the therapeutic journey makes us critical members of the team. Genetic counselors are often first to partner with the family as they discuss a diagnosis and review available treatments. It also becomes essential to collaborate across genetic counseling specialties to support patients throughout their entire lifespan as treatments increase life expectancy. Our ability to create and maintain relationships across subspecialties ensures other members of the care team are aware of available treatments. Finally, it is crucial for genetic counselors to leverage industry partnerships to remain abreast of new technologies and data given the pace of new treatment approvals.
Patient Partnerships
Patients and their families are often overwhelmed by a genetic diagnosis and the complex decisions that follow, which can create stress for families. Our field is especially trained to provide support critical to the families’ mental well-being and tailor discussions to meet current needs. We are the best professionals to explain the molecular mechanism causing a disease and how treatments target the affected pathway. Furthermore, we can serve as judgment-free sounding boards as families work through a decision-making process. We offer families a balanced source of information regarding therapy and demonstrate unconditional support for a patient’s decision, since we are neither prescribers nor the providers making final treatment decisions.
Genetic Counseling Partnerships
Personally, we have found the partnership between prenatal and pediatric genetic counselors to be pivotal in care as treatments continue to emerge. Prenatal counselors support fetal genetic testing and discussion of postnatal (and in rare instances, prenatal) therapeutics, including facilitating conversations and appointments with the postnatal care team. This collaborative approach offers families greater time to weigh treatment options and enact treatment plans before birth, often providing earlier access to treatment while ensuring continuity of care during the prenatal to neonatal transition.
In addition to prenatal-pediatric collaborations, our field needs to keep an eye on the horizon and build partnerships with subspecialists in adult genetic counseling. New treatments will continue to improve the quality of life and lifespan for people living with genetic diagnoses. For example, patients with cystic fibrosis have seen incredible gains in life expectancy. Thus, discussions of inheritance, recurrence risk, and the importance of sharing information with the extended family take on greater importance. Furthermore, there will be a growing need to provide counseling as patients make decisions about their own family planning, a topic that may have been rarely broached with patients in the past.
Health Care Professional Partnerships
Genetic counselors within clinics and hospitals play a vital role in establishing strong partnerships with other health care professionals to form cohesive networks that support patients at every stage of their genetic journey. Our collaborations are particularly crucial in multidisciplinary teams, where we may act as liaisons between specialties such as prenatal medicine, pediatrics, neurology and oncology. Genetic counselors contribute to coordinated care plans that improve outcomes and foster seamless transitions between providers as patients’ needs evolve by facilitating transparent communication across disciplines.
Our role also extends beyond clinical knowledge as we can demystify genetic concepts for providers, enabling them to discuss treatment options, risks and implications with patients more confidently and compassionately. By elevating the genetic literacy of the entire care team, we can ensure that the patient experience is informed, holistic and grounded in the most current science.
Industry Partnerships
Partnerships between genetic counselors and industry professionals are also essential for optimizing patient care in an ever-evolving therapeutic landscape. Industry professionals such as medical science liaisons act as critical conduits of information, providing genetic counselors with the most current and comprehensive data regarding novel therapies, clinical trial results and emerging research. This collaboration ensures that genetic counselors are equipped with accurate, evidence-based knowledge when discussing treatment options with patients and their families. Genetic counselors can quickly adapt to advancements in the field by maintaining an open line of communication with those at the forefront of clinical research, ensuring that their patients benefit from the latest innovations and standards in genetic medicine.
In addition to scientific information, companies providing treatments frequently offer patient support programs. We can leverage our relationships to facilitate patient access to these resources, which may include financial assistance, insurance navigation, educational materials and peer-support networks. Genetic counselors can help families overcome logistical and emotional barriers to care by leveraging these industry-sponsored programs to strengthen the continuum of support that patients receive.
Ultimately, synergy within and between patients, clinical practitioners and industry experts enhances both the quality and accessibility of care for individuals with treatable genetic conditions.
Melissa Gibbons, MS, CGC Melissa Gibbons, MS, CGC, is a genetic counselor at Children’s Hospital Colorado (CHCO) and an associate professor at the University of Colorado School of Medicine. She is also part of a multidisciplinary neuromuscular clinic team and the newborn screen coordinator for spinal muscular atrophy in Colorado and Wyoming.
Kestutis Micke, MS, CGC Kestutis Micke, MS, CGC, previously served as a genetic counselor at the Colorado Fetal Care Center at Children’s Hospital Colorado, leading the integration of whole exome sequencing into clinical care for fetal diagnosis. Kestutis is currently a medical science liaison for BioMarin Pharmaceutical, Inc.