Finding Answers: How Genetic Counselors Improve Families’ Lives With Science and Compassion

Editor’s Note: Genetic counselors interpret genetic test results to guide and support patients seeking information about their personal and family health. They can take a variety of roles, from meeting with patients in a hospital or clinical care setting, to working in a diagnostic laboratory, to performing primary research. In this guest blog, Sarah Raible, MS, CGC, a senior genetic counselor and clinical director of the Center for Cornelia de Lange Syndrome and Related Diagnoses Center within the Roberts Individualized Medical Genetics Center (RIMGC) at Children’s Hospital of Philadelphia, discusses how genetic counselors’ unique contributions and insights are helping to shape the future of precision medicine.

Families for whom clinicians were previously at a loss to explain the reason for their child’s symptoms are now getting answers, with the rapid expansion of genomic sequencing technology.

Exome and genome sequencing has not only expanded our knowledge of the phenotypic spectrum of previously characterized diagnoses but has also led to breakthrough gene discoveries and establishment of novel diagnoses. Exome and genome sequencing efforts have contributed to a diagnosis in up to 25 percent of patients who were previously undiagnosed and had a prior negative genetic workup.

Who can help families and providers interpret this rising amount of genetic information?

Genetic counselors are trained healthcare professionals with expertise in medical genetics and counseling. Some genetic counselors provide general care, whereas others may be more specialized in one or more areas such as cardiovascular, cancer, and neurology, for example. Some genetic counselors also focus on clinical research through collection of detailed medical history and phenotypic information which, in collaboration with researchers, helps to advance medical care for people with genetic conditions.

Genetic counselors involved in clinical research serve as the interface between families and the research team. They serve as a provider and research coordinator, patient advocate, teacher, and healthcare navigator. Genetic counselors help explain complicated results of research testing and share information about novel discoveries together with the patient, family, and members of the healthcare team to help determine the most appropriate path for patients and their families.

Even in this era of modern medicine, many patients and families undergo various tiers of genetic testing but are left without a diagnosis to explain their child’s health differences. Some families, where all testing has been non-diagnostic thus far, turn to research as a means to further investigate and potentially uncover an answer for their child.

A tremendous example is the research efforts led by Ian Krantz, MD, co-director of the RIGMC; Kosuke Izumi, MD, PhD, a clinical geneticist with the RIGMC, and their research teams who used advanced genetic sequencing techniques to discover a novel diagnosis called CHOPS syndrome caused by mutations in the AFF4 gene. The first three patients identified in 2015 were CHOP patients, and the name of the diagnosis fittingly serves as an acronym for the main clinical features: Cognitive impairment, Heart defects, Obesity/overweight, Pulmonary issues, and Short stature.

Finding answers for families with rare and underdiagnosed disorders is extremely valuable, and our team has fortunately accomplished this for at least 15 families worldwide with CHOPS syndrome. Ending a diagnostic odyssey can eliminate the need for additional stressful procedures and painful tests. One of the first CHOPS syndrome patients spent 18 years of her life undergoing multiple procedures before her breakthrough diagnosis.

Finding answers allows families to identify other individuals with the same diagnosis to no longer feel alone and form a community that is invaluable for support and advocacy. In July, our research team hosted the first CHOPS Syndrome Family Symposium at CHOP. Ten of the 15 known families traveled from as far away as Australia to attend this event and gather at the Abramson Pediatric Research Center for a day of bonding, sharing stories, and meeting with CHOP experts.

Finding answers facilitates accurate recurrence risk counseling. In the case of CHOPS syndrome, recurrence is extremely low given that all individuals have a new, or de novo, change not inherited from a parent. Knowing this genetic alteration is a de novo event can also help with the psychological healing process, as families may believe they did something to cause their child’s diagnosis. We can now reassure them this was not due to something they “passed on” to their child. A set of parents of a child with CHOPS syndrome waited years to expand their family due to the fear and uncertainty of having another child with CHOPS syndrome and complex medical needs. Now that we found an answer, this couple has gone on to have two additional healthy children added to their family.

Lastly, finding answers helps clinicians and researchers to understand the natural history of a diagnosis that will eventually allow for prognostic information and lead to improved medical management with the ultimate goal of establishing therapeutics.

Research advancements truly are a team effort relying on scientists, clinicians, and families. We are continually grateful for the willingness of families to share clinical information and biological samples that drive the research process. It is a humbling experience to be so intimately involved in the medical journey of families’ affected by a rare diagnosis and to improve their lives based on science and compassion.