What is Pediatric Genetic Counseling at Gillette Children’s

Gillette Children’s is expanding its team of expert genetic counselors to help you find answers and make informed decisions about genetic testing and discover how a rare genetic disease might affect your child.

It’s an exciting time in the world of genetic and genomic testing and counseling because new treatments are being developed at a fast pace. Recent breakthroughs in the treatment of genetic conditions due to the CRISPR gene editing tool have revolutionized treatments in sickle cell disease. CRISPR gene editing allows scientists to change DNA in specific ways to treat diseases. New genetic testing has also brought innovations in the treatment of Spinal Muscular Atrophy (SMA) and Duchenne Muscular Dystrophy (DMD).

“We are learning a lot about genetics and genomics and how this leads to and affects disease,” says Amy Gaviglio, a rare disease, genetics and public health consultant at Gillette. She has worked as a genetic counselor for 17 years.

“We’re hearing a lot about precision health these days and that ultimately relies on understanding genetics and genomics to target therapies for a patient,” Gaviglio adds. “The work we do really helps to make sure that a patient has the right therapy or intervention for them at the right time.”

The focus of pediatric genetic counseling at Gillette is to provide answers and support for a family. This journey begins with a meeting to hear a family’s questions and to try to understand the health challenges a child might be facing.

Each new appointment begins with an assessment of the child’s medical history as well as a “pedigree” which is essentially an in-depth family history. This gives the Gillette genetic counselors and providers a better understanding of whether an underlying genetic cause is leading to a child’s symptoms. A comprehensive genetic counseling visit can reveal if genetic testing would be a good idea and, if so, what types of genetic tests might be recommended.

“One of the real benefits of genetic counseling is actually in our name—we are counselors,” Gaviglio says.

“We walk a family through the many areas involved with having a child who might have a rare genetic disease. For example, we can talk to families about what a possible diagnosis might be and help them understand how it may affect their child and family,” she adds.

“We can also provide additional supports that might be needed. We can share information about financial supports, emotional supports, mental health support, and even guide the family to specific kinds of supports for a rare disease or condition. We have a lot of information to share with families,” Gaviglio says.

A genetic counselor is part of a team of experts at Gillette. As part of a comprehensive care plan, geneticists and genetic counselors work with a variety of specialists to ensure each child receives the best care possible.

“Part of our role is often to coordinate other types of care,” Gaviglio adds. “We can help a family line up mental or behavioral health specialists. We can connect them with social workers.”

Gaviglio says one of the best parts of being a genetic counselor is the opportunity to let families know they are not alone. “I want families to know they have a team behind them, and we are alongside with them through their testing, diagnosis, treatment and care management journey.”

According to the National Institutes of Health (NIH) there are approximately 7,000 rare diseases affecting between 25 and 30 million Americans. That equates to about 1 in 10 Americans.

Many, but not all, rare diseases are genetic.

Gillette Children’s treats a variety of rare and genetic conditions including;

• Apert syndrome
• Cerebral palsy
• Charcot-Marie Tooth Disease
• Chari Malformation
• Duchenne Muscular Dystrophy (DMD)
• Ehlers-Danlos syndrome
• Neuromuscular disorders
• Osteogenesis Imprefecta
• Prader-Wili syndrome
• Rett syndrome
• Spinal Muscular Atrophy (SMA) and others

Families who have concerns about their child’s health often report they feel like they are riding an emotional rollercoaster.

“So many families who have a child with a rare disease face what we call ‘the diagnostic odyssey’—that’s where they go from specialist to specialist as they try to understand their child’s condition,” Gaviglio says.

“We know getting a diagnosis for your child can be traumatic, expensive, and draining. At Gillette, we can bring relief because we have many tools to help you get the answers you need.”

One of the benefits to coming to Gillette is the comprehensive team approach and the fact that our patient population is unique because we treat so many children diagnosed with a rare disease.

“Simply put,” Gaviglio says, “When you are diagnosed with a rare disease at Gillette you are not rare. Because this is what we do.”

“One of the best things we can give families is hope,” Gaviglio says. “Right now, it’s such an exciting time due to new treatments being developed so quickly. I’m amazed at the changes I’ve seen in my 17 years as a genetic counselor. It’s really a blessing to be part of this.”