Lurie Children’s Genetic Counselors Say“ Happy Birthday, Rosalind Franklin!”

By: Sarah Jurgensmeyer, Valerie Castelluccio, Katherine Kim and Vera Shively

Rosalind Franklin would have celebrated her 102nd birthday today, July 25, 2022. She was a scientist whose research in the 1950’s revealed DNA's three-dimensional structure to be a double helix, resembling a twisted ladder. DNA is the basic unit of heredity. Our genes are made of DNA. Once scientists understood its structure, we gained key information into how DNA worked, leading to tremendous growth in the field of genetics. Genetic counselors are trained experts in genes, DNA, and gene-related health conditions, and recognize how Franklin’s discovery laid the foundation for what we know about the connection between genetics and health today.

Genetic Counseling and Genetic Counselors

Genetic counseling is a communication process between individuals, families, and a healthcare professional called a genetic counselor. Genetic counselors have training in both genetics and counseling. They help individuals and families evaluate and understand their risk for a genetic medical condition. They provide education on how genes and family history influence health. A person can meet with a genetic counselor for a variety of reasons. Some people are referred for genetic counseling by their own healthcare team because their medical history is suspicious for a genetic condition or because of a family history of a genetic condition. Others have already had genetic testing and meet with a genetic counselor to discuss their results.

Genetic Counselors Across Healthcare and Research

Clinical genetic counselors have roles that are involved in direct patient care. They work in both pediatric and adult hospitals, and you may find them on specialty teams with medical geneticists, obstetricians, cardiologists, and others. Genetic counselors collect family history information, perform risk assessment, and guide the genetic testing process. This includes discussing what genetic testing is recommended and helping you decide if testing is right for you and your family. They typically order the genetic testing and disclose the results, along with explaining what the results mean for you and your healthcare management. If testing identifies a genetic diagnosis, they can explain more about the condition and may connect you with family support organizations and research opportunities.

Laboratory genetic counselors have non-clinical roles that support patient care indirectly.  Their work involves interpreting the meaning of genetic variants that have been identified through testing. Changes in the spelling, or sequence, of someone’s genetic code are called variants. Although many variants have little to no effect on how the body works, some variants are related to health problems. Laboratory genetic counselors classify the impact of a genetic variant on the body, whether it is pathogenic and associated with certain health conditions or is benign and not associated with any health condition.  Laboratory genetic counselors also play a crucial role in helping healthcare providers order the most appropriate genetic test, ensuring that the patient receives the best genetic test for their health condition.  Genetic testing can be complex with multiple testing options per health condition. Therefore, genetic counselors improve patient care by providing guidance to the healthcare provider on the best genetic test option for their patient.

Research genetic counselors have roles in many areas of medical and scientific research. This can range from surveying patients about their lived experience with a genetic condition, monitoring the symptoms and natural history of a condition, to even developing new treatments. Genetic counselors in research play important roles in expanding our knowledge of genetics, genetic conditions, treatment options, and the medical field.

Genetic Counselors at Lurie Children’s

At Lurie Children’s, the genetic counseling team is comprised of over 20 genetic counselors who work in the clinical, laboratory, and research settings. Some genetic counselors have dual roles and can be in both direct and indirect patient care or participate in research activities.  Genetic counselors also contribute to the education and training of genetic counseling students, medical students, residents, and fellows.  The Lurie Children’s genetic counselors are included in multiple specialty divisions, including Cardiology, Endocrinology, Fetal Health, Genetics, Neurology, Oncology and Hematology, Ophthalmology, Pathology, and Pulmonary and Sleep Medicine. We have a large team of multidisciplinary genetic counselors affiliated with specialty clinics and programs. Their roles in these areas include diagnosis, management, and sometimes treatments for patients with genetic conditions. Most importantly, whether they're behind the scenes in the laboratory or working in the clinic, genetic counselors support patients and families across the lifespan.

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