Healthcare to Research: The Many Ways Genetic Counselors Help Patients and Families

By: Katherine Kim and Vera Shively, Lurie Children's Division of Genetics, Genomics and Metabolism

Genetic counselors are experts in genetics and how it impacts our health and development. Learn more about who they are, what they do and how they may help you and your family.

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 specialized training to help patients and families evaluate and understand their risk for a genetic medical condition. They provide education on how genes and genetic conditions impact you, so you can make informed decisions about your health and life. 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 Testing

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

Laboratory genetic counselors have roles that support patient care indirectly.  Their work involves interpreting the meaning of genetic changes that have been identified through testing.

Changes in the spelling, or sequence, of someone’s DNA are called variants. Many variants have little to no effect on how the body works, but 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.  

Research Genetic Counselors

Genetic counselors in research play important roles in expanding our knowledge of genetics, genetic conditions, treatment options, and the medical field.

Some genetic counselors serve as research coordinators, working with primary investigators (PIs) to facilitate clinical trials for new treatments for genetic conditions or studies that focus on new gene discovery or better understanding of gene variants.

Genetic counselors can also lead research studies and write research proposals to grant agencies to procure funding for scientific studies. Areas of research can range from surveying patients about their lived experience with a genetic condition to monitoring the symptoms and natural history of a condition to better understanding the correlation between gene variants and disease state. Once the data is collected, genetic counselors typically report their findings as presentations at professional meetings and as publications in scientific journals.

Many genetic counselors also work to educate the next generation of their peers by serving as faculty members and thesis advisors for genetic counseling graduate students. Importantly, genetic counselors are uniquely trained to help patients and families decide whether participation in a research study is right for them, and how to navigate research procedures and protocols if they decide doing so is right for them.

Genetic Counselors at Lurie Children’s

At Lurie Children’s, the genetic counseling team is comprised of over 30 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.

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 they identify research opportunities and potential cutting-edge 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.

More Information

• National Society of Genetic Counselors
• American Board of Genetic Counseling