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A Day in the Life of a Genetic Counselor in the Yale Genetics Department

September 20, 2021
by Cathy Duong

Genetic counselors bridge the gap between the technical, scientific information of a genetic disease diagnosis or test result and the patient’s understanding of how their genetic information affects their health. With the widespread use of DNA sequencing in cancer and increasingly more conditions in the age of precision medicine, genetic counselors are essential as they manage both a patient’s medical genetic needs and psychosocial needs that arise when dealing with such personal, impactful information. In May 2021, the Smilow Cancer Center brought together genetic counselors from across Yale Medicine’s departments for their second annual “Genetic Counselor for a Day” event for prospective genetic counseling applicants. The event comprised a full day of presentations from genetic counselors who practice in a broad range of specialties, from cancer to laboratory genetics. Here in the Yale Genetics Department, two amazing genetic counselors regularly see 80-100 patients in pediatrics and general genetics every month - meet Samantha Wesoly, MS, CGC and Emily Qian, MS, CGC.

In a typical day in the life of a genetic counselor in the Genetics department, Wesoly and Qian spend three half-days a week in clinic seeing patients alongside a geneticist. Their clinical work involves inpatient consultations. “When I see the patient for the first time,” Wesoly explained to prospective students at the event, “one of the first things I want to do is figure out what their concerns are and establish rapport with them, to understand what brings them to see us and what their interests are.” After eliciting the family’s concerns, genetic counselors will collect important medical and family history. Genetics counselors will also dedicate time to walk through the benefits, risks, and limitations of genetic testing as well as interpret and return genetic test results, and work with individuals and their families to plan their next steps. “We're able to provide resources to families about rare genetic conditions that we are learning about in real time,” Wesoly shares excitedly. “Because more folks are opting into genetic testing and it's becoming more accessible, we're finding more answers for families that have been on a diagnostic odyssey for years.”

When Wesoly and Qian are not seeing patients, they spend a lot of time doing pre-charting and case preparation, reading through medical literature before communicating to their patients about what is known and not yet known about their conditions. This can be especially challenging given the many patients with rare diseases seen by general genetics. They also coordinate genetic testing efforts and negotiate with health insurance companies to authorize the necessary genetic tests in the patient’s best health interests.

An exciting part about working as a genetic counselor is being a part of a multidisciplinary team that manages a patient’s health. This team can include geneticists, advanced practice nurses, social workers, dieticians, and doctors of other specialties. For example, Wesoly is involved with the Differences in Sex Development (DSD) Clinic, where she and a team of providers see patients with ambiguous genitalia, family history of DSD, sex chromosome disorders, congenital urogenital anomalies, and specific genetic conditions like 21-hydroxylase deficiency and complete/partial androgen insensitivity syndrome. Together, the team will discuss genetic testing options to find the cause of the patient’s medical issue. In her patient-facing role, Wesoly informs patients about the genetic cause of their disorder, the chance of recurrence risk, and how other members of their family can get tested, if needed.

One of the things that Qian has enjoyed about working as a genetic counselor at Yale is the collaborative atmosphere. Beyond regularly seeing patients with Dr. Yong-Hui Jiang, Professor and Chief of Medical Genetics, and Dr. Hui Zhang, Associate Professor and Co-Director of the DNA Diagnostic Lab, Qian has been involved with their research and the projects which interested her. “I really appreciate the willingness of everyone to be open to new ideas and collaborating. I haven’t met a single person who doesn’t want to help with a project. Everyone’s been really enthusiastic when someone suggests something like ‘We should collaborate with the NICU more’ or ‘We should collaborate with Neurology more.’ Everyone’s been incredibly open, even the basic science researchers. Everyone is open to being approached and even having just that first conversation of ‘What can we do to make this better’ or ‘What can we do to explore this more’?”

Genetic counseling is a challenging but rewarding profession in a quickly growing field. “I love working with families and helping them,” Qian shares. “Some of them have been searching for years for a diagnosis, and we are able to give it to them. We’ve even had patients who had been given the wrong diagnosis, and we can finally do the testing and find out it’s something totally different.” Since they work in Yale Genetics, which is primarily a research department, Wesoly notes how they’ve been able to “bridge connections with families and researchers all over the world to learn more about the pathophysiology of their genetic condition and contribute to the broader understanding of the condition.” Genetic counselors like Wesoly and Qian are present to help patients process how they feel about the information they receive at various stages of living with a genetic condition, from the closure of finding out the name of the disease, to the hope of treatments moving forward, in the exciting era of genomic medicine.

Submitted by Neltja Brewster on September 20, 2021