If you want more information about your child’s diagnosis, you may be thinking about stepping into the vast world of genetics and genetic testing. To give you a quick overview from our article Genetics 101, genetics is the scientific study of genes and heredity, or how traits are passed down from one generation to the next, and people who study genetics are called geneticists. Genetic testing allows these geneticists to look at an individual’s specific array of genes and spot any minute mutations and/or variations.
To help us understand more about how genetic testing can be helpful to families raising kids with disabilities and where families who are interested can start, we spoke with developmental-behavioral pediatrician Dr. Joshua Mandelberg; Senior Manager of Clinical Services at Bionano Laboratories, Allison Ortega MS, LCGC; and Undivided’s Director of Health Plan Advocacy Leslie Lobel.
There are many types of genetic tests, and the right test depends on what a family’s specific goals are for testing. Generally speaking, Ortega says the goal of genetic testing is to help find the underlying genetic class or set of symptoms. For example, “Genetic testing cannot diagnose a child with autism spectrum disorder, but it may find an underlying genetic diagnosis where autism spectrum disorder is a symptom of that condition. And then that child can have a diagnosis of that genetic condition.” Ortega states that while there is “no one genetic test that can tell us everything,” there are tests targeted to specific conditions and recommendations, specifically for children with certain diagnoses. Ortega adds, “The good thing is that genetic testing is recommended and has been for many years for children who have autism, developmental delays, intellectual disabilities, and/or birth defects.”
Some children who have autism, developmental delays, intellectual disability, and/or birth defects also have an underlying genetic diagnosis that can be found through testing. To clarify, genetic testing cannot diagnose a child with autism, but the testing may find an underlying genetic diagnosis where autism is a symptom of that condition. If a genetic diagnosis is found, families and providers can have access to more information, which can lead to better support, more comprehensive care, and potentially tailored treatment. If a genetic diagnosis is not found, this negative genetic result can offer valuable information by ruling out potential genetic conditions.
Genetic testing can also be incredibly useful for those who do not have a diagnosis, as it can potentially result in a diagnosis or in answers that lead the family in a better direction. Dr. Mandelberg says that in this day and age, powerful genetic tests can check for thousands of different things. The science of genetic testing has grown exponentially within the last couple decades and, with that, ever-changing information and types of tests that can better attain specific results. A negative genetic result today, meaning the lab didn’t find any harmful genetic changes in the genes with currently available technology, may not be negative in the near future, as the field of genetics is consistently building more and more knowledge. Genetic testing for children with global developmental delays, idiopathic intellectual disabilities, dysmorphology, multiple congenital anomalies, and other evaluation criteria such as congenital heart disease, seizures, hypotonia, malignancy, and Fragile X syndrome can help families plan for the future and access better care.
The decision to pursue genetic testing is a very personal one for families, and the choice is ultimately up to each family. But for parents who are curious or looking for ways to help their child, testing can be a great option. Dr. Mandelberg names four common reasons parents decide that genetic testing is the right route for them:
Dr. Mandelberg states that families interested in genetic testing should prepare for the unknown. There is always a drawback to testing in the sense that results can sometimes be difficult for families to hear, with a chance of receiving a result that shows an unfortunate prognosis, abnormalities of unclear significance, and/or a rare condition. He reminds us that because of the quickly advancing technology of genetic testing, some literature may be more pessimistic than necessary. A result showing findings of poor prognosis doesn’t always mean that medical professionals won’t be able to use that genetic information to improve the life of your child.
If you’re not entirely sure whether genetic testing is right for you and your family, Ortega says that a genetic counselor can be very helpful in understanding reasons why testing may or may not be right for your specific situation. A genetic counselor is able to go over detailed considerations that may not come to mind for families beginning their journey in genetic testing.
Genetic testing has the potential to positively impact a variety of types of care — whether that’s medical, educational, short-term and/or long-term care. Ortega explains, “A genetic diagnosis made by genetic testing has the opportunity to give a family and healthcare providers more information, and information can often be used to create more comprehensive care.” For example, Ortega says, “It can take a set of symptoms that maybe didn’t have a name before, and provide not only a name, but clarity about how to move forward and what to consider.”
Parents may also be able to learn from other people’s experiences with that same diagnosis and potentially learn about what they can expect for their family in the future. Genetic testing opens up the possibility of community and learning with other families, as well as communication among medical professionals treating the same diagnosis.
As a family begins the genetic testing process, it’s likely that there will be an array of laboratory and financial options available. Because of this, families are encouraged to ask their healthcare and medical professionals about their experiences. What is the healthcare provider’s experience with each laboratory? What is the laboratory’s experience and history of getting tests covered by specific insurance?
As for the time the process may take, different tests have different timelines. Ortega reminds us again that because no one test can tell us everything, there is a possibility that your healthcare provider may recommend multiple tests. Generally, she says testing can span from several to many weeks, and the length all depends on the type and multitude of tests. Are multiple tests ordered? Is one test dependent on the results of another test?
Another aspect that Ortega brings up is the upfront work of insurance, which may require prior authorization, documentation, and samples for the laboratory to begin testing. This can add to the timeline of the genetic testing process as a whole. She explains that generally, when insurance companies are looking to prove anything, they want to compare the request to medical recommendations and guidelines, and they like to be able to see why this testing is needed and important. She says it’s helpful to work with your healthcare provider to make sure they are present in your documentation of your child’s symptoms and provide the rationale for assessing why genetic testing is necessary. Ortega recommends that families ask their doctor, or potentially the testing laboratory, what their experience is with specific insurance companies in order to get support from the laboratories that have experience in getting testing covered.
While genetic testing is proven to help in diagnosing rare conditions, families have varying experiences with insurance coverage for what can be $4,000 to $8,000 tests. As Jill Maron, Chief of Pediatrics at Women & Infants Hospital in Providence, Rhode Island, states in this KFF Health News article, “The only thing interfering with more widespread use [of genetic testing] is insurance payment.” From KFF Health News’s crowdsource, some private insurance companies cover testing with certain limitations, while others do not.
There are less expensive testing options available, but keep in mind that medical-grade genetic testing through your doctor is different from a direct-to-consumer (DTC) at-home testing kit. Information from DTC tests can be misleading, and while there is easier access to DTC testing than medical-grade testing, accuracy and actionable information are far more limited in DTC testing than in its counterpart. The CDC states, “DTC test results can be used to make decisions about lifestyle choices or provide issues to discuss with your doctor. However, DTC tests cannot definitely determine whether or not you will get a disease and should not be used alone for decisions about your treatment or medical care.” If you decide DTC testing is the ideal route or you have questions about what DTC vs. medical-grade testing will do for you and your family, your doctor can still help answer questions and aid in picking the right DTC test for your specific situation.
When talking about the outlook of getting genetic testing covered by insurance, Lobel says we’re in good hands. She states that the billing departments of genetic testing companies are trying to get your genetic testing covered not only for you but also as a benefit to themselves: “The lab wants you to be successful in your claim — and have your claim go well and be approved quickly — so they can get paid. In addition, the labs are in the process of establishing success with the insurance companies.” The more insurance companies pay for genetic testing, the more established genetic testing labs will be.
Lobel states that it is very important to make sure the testing lab you are being referred to is in-network. This will do two things: 1) increase the reimbursement rate for what can potentially be very expensive tests, and 2) allow the provider, or genetic testing lab, to buy into the process of getting the claims paid. What does the latter mean? Lobel says, “If you’re going to an in-network provider, you'll get more support from the billing office at the lab because they are contracted with the plan.”
So what do you need to be responsible for and aware of during the process of getting genetic testing covered by insurance? Lobel breaks it down for us:
Do you have experience getting genetic testing covered by insurance? We want to hear about your experience and advice for other families! Get in touch and email us. For more information about genetics, read our article Genetics 101.
Save your favorite resources and access a custom Roadmap.
Get Started
