Written by Kelly Chase
Medically Reviewed by Christine Maccia, M.S., C.G.C.
While you might think your child is only at risk of a genetic disease if a certain condition runs in the family, the truth is that genetic diseases can also be non-inherited. This means they can be caused by one or more unexpected gene mutations (commonly called variants) that can occur during or before conception, and aren’t passed on from your genes. Furthermore, sometimes you need both parents to have a gene mutation for signs and symptoms to present.
In some cases, signs of a genetic condition are seen in a baby during pregnancy. Elizabeth Rowe learned that her third child, Jane, had a cystic hygroma (a fluid-filled bump on the neck) during a routine 12-week prenatal ultrasound appointment. Amniocentesis, a type of prenatal genetic test, revealed that Jane had Turner Syndrome, a congenital condition that occurs when one of two X chromosomes is partially or completely missing. “The thing about genetic testing is that you [can] get that definitive answer,” says Rowe. “It was really painful, but it was also like, okay, we know what’s going on.”
More commonly, parents notice signs and symptoms in the first years after their child is born, that lead them to a doctor’s office. Many parents, and many pediatricians, may not immediately suspect an underlying genetic cause which could delay testing, and sometimes parental instincts can be dismissed or overlooked. If your child has unexplained developmental delays, for example, genetic tests can be an invaluable tool to inform your family’s medical decisions and care, which can lead to better outcomes for your child’s development. If you have worries about your child, seek out a second opinion, such as with a behavioral pediatrician or a neurologist, and ask about genetic testing.
“Genetic testing is usually recommended when there are one or more notable health symptoms that prompt the need for more information,” says Malika Sud, MS, a licensed genetic counselor at Children’s Hospital of Boston.
Genetic results can help your family to navigate the path forward. For Rowe and her husband, this meant meeting with an endocrinologist and a cardiologist, who determined that Jane would need heart surgery immediately following birth. “As soon as she was born, she went over to Boston Children’s to be stabilized before surgery,” says Rowe.
WHAT IS GENETIC TESTING?
Genetic testing involves analyzing your child’s genes to identify mutations that explain your child’s symptoms. “Our genes are like instruction manuals for our bodies to grow and develop,” says Sud. “When we do genetic testing, we are really trying to make a molecular diagnosis to understand the symptoms that we are seeing.” Everyone has variations in their genetic material. Some differences don’t have any health consequences, but some can lead to disease or risk for disease.
Genetic tests are often ordered by your child’s specialist (such as a neurologist), or your specialist may first refer you to a geneticist for further evaluation before ordering a test. During pregnancy, genetic tests are usually ordered by your obstetrician.
There are many different types of tests, which is where genetic counselors come in. They have specialized education and training, and they work with doctors and families to decide on the most appropriate testing. The test itself is performed using blood or saliva samples sent to a genetic testing lab to perform the recommended genetic test.
WHAT ARE THE GOALS OF GENETIC TESTING?
The goals of genetic testing vary, but results can provide a diagnosis that can help shape medical plans for your child. “One thing a genetic diagnosis really opens up is a kind of a roadmap for what might lie ahead to guide medical management and screening,” says Sud.
A genetic diagnosis can help your family understand your child’s symptoms and how to treat them. It can inform how to build your child’s care team, which might mean adding physical therapists, pulmonologists, gastroenterologists, dietitians, speech pathologists, or other specialists to your child’s medical roster. Tests may open up pathways to research studies as well as potential clinical trials.
Plus, a diagnosis can open the door to a community of parents who have children with the same diagnosis, who may offer insights from their experiences to help you care for your child and manage their condition.
In Rowe’s experience, genetic testing was useful for her family because, in addition to a diagnosis, it helped pinpoint her daughter’s specific mutation, Monosomy X. All rare diseases have variability. Knowing which type of mutation your child is living with may sometimes—although not always—help doctors customize care and therapies for your child.
In her practice, Sud has seen firsthand how knowledge of a genetic disease helps families and doctors. “Looking for other folks with the same specific genetic mutation and understanding what their road looked like can help you create a better picture of what your own road might look like,” says Sud. If your child’s mutation was inherited, you’ll learn of your risk of reoccurrence in a future pregnancy.
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