By Laura Thornton
daughter, Laila, who has a very rare genetic disorder.
At Kennedy Krieger Institute, clinicians treat more than 50 rare diseases, including leukodystrophies, muscular dystrophies, and Sturge-Weber, Rett and Kabuki syndromes, as well as many unnamed genetic conditions. Patients come to the Institute from around the world for treatment for rare diseases.
But before a rare disease can be treated, it must be diagnosed. That often means getting a genetic test—an analysis of a patient’s blood or saliva to reveal their DNA. The test could be for a specific condition, or it could be a broad examination of a patient’s DNA to look for variants in the DNA code that could be causing certain symptoms.
Genetic counseling has a multitude of benefits.” – Julie Cohen
At Kennedy Krieger, genetic counselors collaborate directly with neurologists, neurodevelopmental pediatricians and other specialists—an approach pioneered at Kennedy Krieger—to bring advanced genetics expertise to clinicians and provide crucial genetic counseling to patients and their families, both before and after DNA tests are administered.
“We’re trained not only in determining which genetic tests are appropriate for a given patient, but also in talking families through the option of genetic testing and helping them understand and adapt to genetic test results and diagnoses,” explains genetic counselor Julie Cohen, the Institute’s director of genetic counseling services. “We provide guidance and emotional support throughout the diagnostic journey.”
Integrating genetic counselors as part of the care team ensures patients access genetic testing in a timely manner, and enhances quality of care. Diagnosis opens the door to individualized treatments, medications and therapies, and to participating in clinical trials—often, the treatment offered in a clinical trial is the only one available for a given diagnosis.
Cohen and her fellow genetic counselors stay up to date on the latest research on genetic disorders, and they often contribute to research leading to the discovery of new disorders. They also connect patients and families with organizations supporting people with their specific rare diseases, as well as with other similarly impacted families.
“Genetic counseling has a multitude of benefits,” Cohen says. But it’s perhaps the personalized attention genetic counselors provide that is the most important benefit of all.
“When parents get a test result suggesting their child has a certain medical condition, the information can be hard to accept, even if they’ve been seeking an explanation,” says neurologist Dr. Constance Smith-Hicks, who directs the Institute’s Center for Synaptic Disorders. “Walking parents through the acceptance process is an important aspect of medical care that cannot be overlooked.”
