November 10, 2023

Unveiling the World of Genetic Counseling: An Interview with Elizabeth Melchionna

In honor of Genetic Counselor Awareness Day, we had the privilege of speaking with Elizabeth Melchionna, a genetic counselor at HNL Lab Medicine. Elizabeth provided us with valuable insights into the world of genetic counseling, demystifying the complexities of the profession and emphasizing the importance of their role in the medical field.

The Diverse Role of Genetic Counselors

Elizabeth began by explaining the differences between clinical and non-clinical genetic counselors. “Clinical genetic counselors,” she noted, “are the professionals who directly engage with patients, assessing the risk for genetic conditions that may be present in an individual or within a family.” They often order genetic tests and use personal and family health history to determine the likelihood of a genetic condition running in the family. Despite the difference in focus, both clinical and non-clinical genetic counselors undergo the same rigorous clinical training.

Elizabeth pointed out that genetic counseling spans various fields, with the primary domains being prenatal, pediatrics, and cancer. However, genetic counselors can also be found in specialties like cardiology, neurology, ophthalmology, and laboratory testing, the latter being her area of expertise. Some genetic counselors work in family practice, conducting general assessments in both pediatrics and adult genetics, showcasing the profession’s adaptability and ever-expanding role.

The Role of a Laboratory Genetic Counselor

In her role at HNL Lab Medicine, Elizabeth specializes as a laboratory genetic counselor. Her work primarily involves the complex world of genetic testing. “Genetic testing,” she emphasized, “can be intricate, and my responsibility is to ensure the accuracy and relevance of every test order that comes through the laboratory.”

She noted that they utilize a system of test codes to streamline the testing process. However, she pointed out that occasionally, healthcare providers may request tests that are unconventional or not typically offered by the laboratory. In such cases, she plays a critical role in liaising with customer care and tech support teams to either confirm if the test is within their capabilities or help find a suitable alternative laboratory.

Additionally, Elizabeth collaborates with healthcare providers to determine the most appropriate genetic tests for their patients. She also assists in interpreting complex test results, which can be a challenging task due to the intricacies of genetic testing.

The Classification of Genetic Variants

One of the key aspects of her work involves the analysis and classification of genetic variants and mutations found in the tests. Elizabeth explained that genetic tests don’t always yield straightforward positive or negative results. In some cases, there are ‘gray area’ results known as variants of uncertain significance (VUS). She elaborated that VUS results can be confounding as they don’t definitively indicate whether the genetic variant is harmful or benign.

Based on the specific gene and inheritance pattern, further testing is offered to help clarify a VUS result. This often involves testing family members, particularly the parents, to determine if the variant is a de novo change (unique to the patient) or inherited from a parent. “In some cases, HNL Lab Medicine offers testing to the patient’s family members at no charge.” This additional information helps influence the classification, moving it out of the ‘gray area' and closer to either being pathogenic or benign.


The Significance of Genetic Counselors in Healthcare

Genetic counselors are specialized genetics healthcare professionals. While there are medical doctors (MDs) who are geneticists, there are often insufficient numbers to meet the demand. Geneticists typically require extensive medical training and specialization in areas like pediatrics before pursuing a fellowship in genetics. The shortage of geneticists has opened the door for genetic counselors to fill this gap, making genetic expertise more accessible.

The two-year intensive master’s program that genetic counselors undergo equips them with specialized knowledge in various genetic conditions, their inheritance patterns, and the intricacies of genetic testing. This training enables them to understand the nuances of genetic conditions and recommend appropriate testing. Furthermore, genetic counselors often serve as valuable resources for patients and other healthcare professionals, offering information, support, and access to clinical trials specific to certain genetic conditions.

When to Seek the Expertise of a Genetic Counselor

Elizabeth stressed that individuals should consider consulting a genetic counselor when they suspect an individual or family history of genetic conditions, especially in cases related to cancer, high cholesterol, or certain heart conditions. She recommended that patients discuss their concerns with their primary healthcare providers, who can make a referral to a genetic counselor. However, she acknowledged the challenge of accessing genetic counselors in certain regions. In areas where specialized geneticists are scarce, organizations like the National Society of Genetic Counselors (NSGC) provide tools to help individuals locate certified genetic counselors, some of whom offer telehealth services.

The Rewards of Genetic Counseling

In the closing segment of our interview, Elizabeth shared the most rewarding aspect of her work. She expressed her fondness for working on complicated cases, where a single genetic test doesn't provide a conclusive result, leading to a need for further investigation. Collaborating with various departments, such as cytogenetics, she enjoys the challenge of unraveling complex genetic puzzles. The ever-evolving nature of genetic testing and the continuous discovery of new gene variants and their associated conditions keep her engaged and on her toes.

She noted that while the saying, “When you hear hoof beats, look for horses, not zebras,” has been a guiding principle in medicine, genetic counselors are instrumental in identifying those rare ‘zebras’ the uncommon and complex genetic conditions that require specialized attention. The dynamic and ever-changing landscape of genetic testing is one of the aspects providers appreciate when interacting with genetic counselors, as they offer valuable insights and support in navigating the complexities of genetic medicine.

Elizabeth Melchionna’s insights provide a deeper understanding of the vital role of genetic counselors, who bridge the gap between the world of genetics and the healthcare decisions that impact patients’ lives. Their expertise and dedication to helping patients and healthcare providers navigate the complexities of genetic conditions deserve recognition and celebration on Genetic Counselor Awareness Day.