1Should I be concerned about my child's development? When is it just a little delay and when is it something more?
If you are concerned about your child’s development at any point, you should talk to your child’s doctor. There are multiple developmental screening tools available online (e.g. M-CHAT, Ages & Stages Questionnaires, developmental milestones checklists) to help determine if your child needs a more formal developmental assessment. Sometimes a child may have mild delays that resolve with time or with developmental therapies (e.g. occupational, physical, or speech therapy). Other times, a child’s delay requires more attention. Ongoing discussion with your child’s doctor is important to determine when his or her development needs more attention. The sooner developmental concerns are addressed, the more likely a child can reach his or her full potential.
2Will this genetic testing determine if my child has autism spectrum disorder, developmental delay, or intellectual disability?
Genetic testing does not diagnose autism spectrum disorder, developmental delay, intellectual disability, or other neurodevelopmental features. Those types of diagnoses are made by trained providers who use specific assessments to determine if a child has those symptoms. Genetic testing can help us find an underlying genetic cause for their symptoms. Identifying a genetic change can provide a better understanding of what is going on with the child and what it might mean for the future as well as help guide medical management.
3How will a genetic test help my child? Why do I need one if my child has already been diagnosed with autism or developmental delay?
If a doctor has given your child a diagnosis of autism spectrum disorder or developmental delay, these are descriptions of symptoms that the doctor sees in your child. However, they do not tell us the cause of those symptoms. Genetic testing helps find the root cause which leads to more personalized care and improved outcomes. Some genetic conditions that cause neurodevelopmental features also cause medical concerns, which tells healthcare providers what to look for in the person (ex: we may learn a child has risks for heart problems or seizures). It is recommended by many medical organizations that children with autism spectrum disorder, intellectual disability, and other neurodevelopmental features receive genetic testing.
4What does a "negative" test result mean?
A negative result means that a genetic condition was not identified by the genetic test that was performed. A negative result does not mean that your child does not have autism spectrum disorder, developmental delay, intellectual disability, or another condition that was diagnosed, it just means that the test was not able to detect a genetic condition that is known today. However, the more comprehensive the test performed, the higher the likelihood that a genetic condition will be diagnosed (but there are limitations to all tests). Genetic counseling is a great option to further discuss additional options and how to proceed with next steps. Negative or normal results are often viewed as not “helpful,” however, this rules out hundreds of genetic changes that cause genetic conditions – which is helpful in determining what is not causing the child’s symptoms.
5Why should I get genetic counseling with this test?
There are many benefits to this service, including a discussion about possible results, medical recommendations based on the results, and next steps that may be taken including testing for family members.
6How much will genetic counseling for this test cost?
Genetic counseling with a licensed and certified provider is included in the cost of the tests available through MyDevelopingChild.
7How can I schedule genetic counseling?
Feel free to contact our team at any time by dialing 801-931-6266 or emailing firstname.lastname@example.org. If you purchase one of the MyDevelopingChild genetic tests, you will be emailed a link to schedule your results discussion with one of our genetic counselors.
8My child has a genetic condition. Can we fix the genetic variant? Are there treatments?
The genetic change found in your child is likely within every cell of his or her body. Because the medical community currently does not have the ability to correct genetic problems after a person is born, it is not something that we can readily fix, alter, or cure. A genetic diagnosis can still be very valuable information, however, because it gives us a road map going forward if there are specific services, therapies, medications, etc., that may work better for your child based on his or her genetic status. For that reason, many treatments of genetic conditions are currently based on addressing a person’s symptoms. Research is always ongoing, and it is recommended you keep in touch with a genetic specialist, to see what is new. Additionally, some genetic condition-based advocacy groups have routine meetings to discuss opportunities for those with certain genetic variants.
9Will my child's doctor get a copy of the results?
You will be asked to submit information about your child's health history during the ordering process. If the child’s health history meets criteria for testing, an independent physician from PWNHealth will approve and order testing. That provider will be given a copy of the results. You may also wish to have a copy sent to one or more providers involved in your child’s care by emailing email@example.com.
10What conditions will the Essential test detect?
The Essential test is similar to a chromosomal microarray test and detects deletions and duplications of genetic material. These deletions and duplications may result in genetic conditions. The Essential test will only report known genetic conditions (this means we will not report on variants of unknown or uncertain significance. You will receive a comprehensive e-report, which you can send to your doctor. You also have access to discuss the results with a genetic counselor. Some examples of conditions detected on the Essential test include 16p11.2 deletion syndrome, Prader-Willi syndrome, Angelman syndrome, Smith-Magenis syndrome, Koolen de-Vries syndrome/17q21.31 deletion syndrome, Kleefstra syndrome, DiGeorge syndrome/22q11.2 deletion, and even whole chromosome variants such as Down syndrome/Trisomy 21, Klinefelter syndrome, and Turner syndrome.
11Will the doctor review my information to see if this test is right for my child?
MyDevelopingChild’s testing is meant for children with neurodevelopmental disabilities. If the independent healthcare provider group (PWNHealth) who reviews your child’s information determines that this test is not recommended based on the clinical history submitted, the reasons will be explained to you and you will be refunded the amount of the testing package less the independent physician review fees.
12Is this the same as other tests available to consumers, like those that give you your ancestry or inherited traits?
The Essential Test is a diagnostic test because it is designed to detect the underlying genetic changes that are considered medically relevant and underlie conditions such as autism spectrum disorder, developmental delay, intellectual disability, and other childhood developmental disorders. This testing does not report on ancestry or “recreational” traits (like hair and eye color) and instead seeks to diagnosis genetic conditions that can help one’s healthcare providers personalize medical care. Diagnostic genetic tests are commonly ordered by health professionals and are meant to identify rare genetic changes, not common genetic changes in the general population. In many cases, families are on wait-lists to see a genetic specialist for months or even years to get diagnostic genetic testing results.
13Will this testing decrease the waiting period to see a specialist (i.e. move my child "up" on a wait list)?
It is unclear how each office and specialist will handle genetic testing results when determining wait list priority. There will likely be variability based on each practice and its policies. It is possible that some specialists will expedite a visit (or in other words, move a child “up” on the wait-list) if a person has a known genetic syndrome. It is best to discuss this possibility with the specialist whom you are waiting to see or considering contacting.
14Can insurance discriminate based on the results of this test?
In 2008, a federal law called the Genetic Information Non-Discrimination Act (GINA) was passed. Because of this, health insurers and employers cannot discriminate against individuals based on genetic information. GINA defines genetic information as genetic test results and family medical history. GINA specifies that insurers cannot raise rates, cancel a plan, or determine eligibility because of genetic testing. Employers are prohibited from hiring, firing, or promoting based on genetic testing. Some exceptions to GINA may include: employers with less than 15 employees; military insurance; life insurance; disability insurance; and long-term insurance. Individuals, particularly those without evident clinical features, may wish to consider purchasing life, disability, and/or long-term insurance prior to genetic testing.
15Do you take insurance?
After nearly a decade, we have learned that health insurance often does not offer adequate coverage for genetic testing. MyDevelopingChild was created to give more families access to genetic testing for their child by offering a lower cost, self-pay testing option. This option can also take significantly less time to get results than relying on health insurance for coverage. We compiled a number of insurance related questions we often receive from parents and you can read it here.