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Gillette Children’s team of expert genetic counselors is here to help you find answers and make informed decisions about genetic testing.
“It's a really exciting time to work in genetics, as there are new gene discoveries and new treatment discoveries happening at such a rapid pace,” says Kali Schreiner, MS, CGC, lead genetic counselor at Gillette.
“Historically, if you were diagnosed with one of these rare genetic conditions, that was it. There wasn't much to be done in the way of treatment. We're now finding that there are many different treatments and things that we can do about these conditions.”
New genetic technology has brought innovations in the treatment of spinal muscular atrophy (SMA) and Duchenne muscular dystrophy (DMD) in the form of gene replacement therapy, in which a new, functional copy of a non-functioning (or missing) gene is introduced to the patient’s body and works to supplement what their body is missing naturally.
What is pediatric genetic counseling at Gillette?
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.
“A genetic counselor is a healthcare professional who helps to coordinate genetic testing for families who have a child with either unique medical or developmental concerns,” says Schreiner. “Genetic counselors meet with a family and take into consideration their medical and developmental history, as well as their family history, and the main concerns that the family has in order to develop an approach to testing for their child.”
This thorough history 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.
What are the benefits of genetic counseling?
One of the main benefits of genetic counseling is in the name: genetic counselors are there to help walk families through the many nuances involved with having a child who might have a rare genetic disease.
In addition to support during the testing process and providing information about available treatments, genetic counselors can also share information about emotional, financial, and mental health support. They also often have resources focused on families with the specific genetic condition identified in the patient’s test results.
What is the role of a genetic counselor?
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.
Schreiner says one of the best parts of being a genetic counselor is the opportunity to let families know they are not alone.
“It is great to put all those pieces together to help a family understand what's going on with their child, so they can then advocate for themselves and their child.”
When should you seek a genetic counseling appointment?
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;
What it means when a family finds answers to genetic questions
Families who have concerns about their child’s health often report they feel like they are riding an emotional rollercoaster.
“Some of my most memorable patients here at Gillette have been families who have been on what we call the diagnostic odyssey for a long time,” Schreiner shares. “Patients who have ongoing medical or developmental concerns where there have been no explanations found thus far for these concerns. Oftentimes, when we find a genetic diagnosis for these families that have been on these long journeys, having a name for that condition and an understanding of why this has happened to their child can be a big sigh of relief for a lot of families.”
One of the benefits of coming to Gillette Children's is the comprehensive team approach, and the fact that Gillette's patient population is unique because Gillette treats so many children diagnosed with a rare disease.
“There are many situations where outside genetic counselors or other specialty providers are finding a rare, unique genetic diagnosis for their patients and are often referring to Gillette, as we specialize in several different rare conditions that aren't typically seen at other hospital groups," says Schreiner. "Gillette is a good specialty care center for a lot of different genetic conditions—we have other specialists referring into us due to the unique and specialized care that we provide here at Gillette.”
