Code talker: A Q&A with genetic counselor Kira Dies

Kira Dies, a genetic counselor, won the Code Talker Award.

Your child has just been diagnosed with a rare genetic disorder. Your pediatrician has never heard of the condition and the internet doesn’t offer much information. Where do you turn?

Kira Dies, a genetic counselor in the Department of Neurology at Boston Children’s Hospital, helps parents with these hard questions every day. One of about only 4,000 genetic counselors in the country, Dies has been trained in handling both the scientific and emotional sides of genetic disorders.

Dies was also the recent winner of the Code Talker Award, presented by Genome Magazine and the National Society of Genetic Counselors (NSGC). Two other genetics counselors from Boston Children’s were also nominated, Casie Genetti and Beth Sheidley.

Although Kira works in neurology, primarily with patients who are diagnosed with tuberous sclerosis complex (TSC), the nomination that won her the Code Talker award was from Kasey Edwards, mom of Robbie, who was diagnosed with a rare type of hereditary spastic paraplegia, SPG 47. At the time Robbie was diagnosed, only one other child in the United States was known to have the same diagnosis.

We sat down with Kira to learn more about her role at Boston Children’s.

What’s a genetic counselor’s role in diagnosis?

First, we meet with the patient and family to get a detailed history and look for other symptoms. For example, if a child has autism, I look for other clues, such as other organ involvement or distinctive facial features that might point to a genetic condition or syndrome. Then I meet with the neurologist, geneticist or both, and we brainstorm and decide what genetic tests to order. It’s like putting a puzzle together.

Once the results come in, I typically call the family to explain and then meet them in person to further discuss what the diagnosis means. I also help them with any resources they need. We often do other family studies, to check the parents and see if anyone else in the family is at risk.

Are there other ways you work with families?

Another big part of our job is working with parents who have one child with a genetic condition and want to know their chances of having another baby with the same condition. We also see adults with genetic disorders who want to know if they will pass the condition along to baby. For these patients, I interpret their risks and help guide them in making decisions. We often get called into the Advanced Fetal Care Center (AFCC) to help pregnant moms adjust to a diagnosis and get ready for the baby’s arrival.

Kira Dies poses with Kasey Edwards at the Code Talker Award ceremony.
Kira, right, with Kasey Edwards at the Code Talker Award ceremony

How can a genetic counselor help families interpret results?

With advances in testing technologies that enable laboratories to test hundreds or even thousands of genes, patients more often receive diagnostic results of uncertain significance. Uncertain results make parents understandably quite anxious. This can lead to difficult counseling because there are often no clear answers. Most clinicians don’t know how to interpret gene changes unless they have been trained in genetics. That’s where a genetic counselor can really help. We’re trained not only in how to understand the results, but also how to explain the results to a family. So we can interpret the results, help them find resources, and test parents and family members.

It’s exciting what’s happening now in genetic counseling, we’re not just diagnosing, but are now sometimes able to offer clinical trials or treatments.

How do you handle an ultra-rare condition like SPG47?

That’s evolving as we discover more of these rare conditions, and the results are often very complicated.

All we knew about SPG47 at first was from the few cases in the literature, many of whom have two identical gene variants from the same blood line. To date, Robbie and the other children diagnosed in the U.S. have two different, or heterogeneous, gene variants. We are still learning about the differences between children who have two identical gene variants and those who have two different gene variants. Robbie’s parents worked tirelessly to start a foundation for SPG47 to help spur research. They have now identified 20 children with SPG47 worldwide, and we just had a paper accepted that will be published later this year. It’s the first paper describing more heterogeneous cases.

It’s exciting what’s happening now in genetic counseling, we’re not just diagnosing, but are now sometimes able to offer clinical trials or treatments.

Is there one story you’re most proud of?

The one that’s been the most touching in my life was a couple from New York. Their much-wanted first pregnancy had been terminated after a diagnosis of tuberous sclerosis. When they got pregnant again, their doctors in New York suspected the same diagnosis after the fetal ultrasound.

Her sister lived in Boston and reached out to our Tuberous Sclerosis Program. I suggested they come to our Advanced Fetal Care Center for a second opinion. When we did an echocardiogram and a fetal MRI everything looked good. Our TSC expert, Dr. Mustafa Sahin, looked at their scans, and confirmed it wasn’t likely to be TSC. So they went on to have a healthy baby girl. I was honored to be part of their family’s journey, providing reassurance and support.

Learn more about our Neurogenetics Program.