Genetic Testing For Autism
This Got Questions? answer is by geneticist Dean Hartley, Autism Speaks Senior Director of Discovery and Translational Science.
We recommend anyone with an autism diagnosis get genetic testing. Unfortunately, less than half of people with autism do.
Current genetic testing will not give answers to everyone, but without testing we will not be able to give information to some individuals or families that could explain the possible cause of autism and possible future medical conditions.
When you are ready to have genetic testing, we suggest you start with the provider who diagnosed you or your child with autism. That person should be able to refer you to a neurodevelopmental pediatrician, a medical geneticist, or a clinic that specializes in autism or developmental disorders and has experience in genetic testing. We do not recommend directly seeking a company to do genetic testing. A medical specialist or genetic counselor is best qualified to help you understand beforehand what the test will or will not provide and the interpretation of your results.
Once you see this specialist, you will likely be offered the current standard of genetic testing, called microarray testing. Of those who do, 3 to 10 percent will find a genetic variation that likely accounts for a persons autism. One reason for these small percentages is the limitations of microarray technology it only covers a small amount of our 6 billion letters of our DNA that we get from our parents.
Most Genetic Conditions Do Not Have A Specific Cure Or Treatment But There May Be Other Benefits To Having That Information
Knowing that a child has a particular genetic change may alert healthcare providers to test for other conditions that may go along with it.
For example, changes in SCN2A, a gene associated with autism, could influence the type of epilepsy medication the person takes.
Also, families may learn about what to expect in the future, if that information is available.
If a diagnosis is made related to genetics, there are generally support groups or organizations of other individuals with the same genetic change. It helps to be able to connect with those individuals or families to share information.
Some parents also want to know if they share their child’s genetic change, and whether they could pass it to other future children.
Ruling out genetics also means that focus can be redirected to environmental factors. This may include exposure to pollution, pesticides, and hazardous chemicals.
Other factors may include the age of parents when they conceive a child a pregnant woman’s medical conditions , illnesses and nutrition and events that happen at and after a baby’s birth.
Are Online Autism Tests Accurate
Online tests are not diagnostic tools. However, they may help a person determine whether they should speak to a doctor or specialist regarding ASD.
Tests from reputable, official organizations are only screening tools. They cannot provide a person with an official ASD diagnosis.
For example, the M-CHAT is a widely-used online screening tool. It can help parents and caregivers identify whether their child might have ASD, but it cannot provide a definitive diagnosis.
However, in certain cases, online tests may assist specialists in diagnosing ASD, but only as part of a more comprehensive assessment process.
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What Might The Doctor Recommend For Your Child If You Have A Family Health History Of Autism Spectrum Disorder
Knowing about your family health history of ASD can help your childs doctor better care for your child. The doctor may check your child more closely for early signs of ASD and might refer your child to a specialist for further evaluation. When a child is closely monitored, signs of ASD can sometimes be noticed at 18 months or youngerexternal icon. A reliable diagnosis of ASD is more common around 2 or 3 years of ageexternal icon and usually made by a developmental specialist. If a child is diagnosed at a young age with ASD, treatment is more effective. Also, a diagnosis of ASD is important for tailoring childrens education once they start school. Learn how early intervention leads to better outcomes for children with ASD.
If you are pregnant or planning a pregnancy, your doctor might recommend carrier screening if you have a family health history of a genetic disorder, such as fragile X syndrome.
Currently Available Autism Genetic Testing Panels
Below weve included a list of labs and tests that are both marketed for autism spectrum disorder and include the FMR1 gene. Though we tried to locate and verify as many as we could, we do not assume this list is exhaustive. Because they can change at any time, please review the information carefully and follow up with your health professional and/or the lab for the most current information.
Please note that the commercial labs in this list may or may not also offer specific Fragile X DNA testing. Our intent with this list is to assist people facing an autism diagnosis with an unknown cause, and who would benefit from testing that includes all currently known autism-related genes.
Please in interpreting any of the information here:
Note that the following are as of May 2019. We will update this list periodically and note the date of last revision. These are not Fragile X DNA tests, they are tests for an autism diagnosis of unknown cause that include the FMR1 gene.
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Finding Connections Between Diseases
Kass, the Hopkins bioethicist, believes that ARPA-H should walk a balance, with some projects focusing on specific diseases and others aspiring to solutions with broader applications, spanning multiple diseases. Being impartial, some have noted, might involve looking at the total “life years” saved by a health innovation the more diseases addressed by a given breakthrough, the more years of healthy living it may confer. The social and economic value should increase as well.
For multiple payoffs, ARPA-H could concentrate on rare diseases, which can yield important insights for many other diseases, said Might. Every case of cancer and Alzheimer’s is, in a way, its own rare disease. Cancer is a genetic disease, like his son Bertrand’s rare disorder, and mutations vary widely across cancer patients. “It’s safe to say that no two people have ever actually had the same cancer,” said Might. In theory, solutions for rare diseases could help us understand how to individualize treatments for more common diseases.
Many experts I talked with support another priority for ARPA-H with implications for multiple diseases: therapies that slow down the aging process. “Aging is the greatest risk factor for every major disease that NIH is studying,” said Matt Kaeberlein, a bio-gerontologist at the University of Washington. Yet, “half of one percent of the NIH budget goes to researching the biology of aging. An ARPA-H sized budget would push the field forward at a pace that’s hard to imagine.”
Genetic Testing And Autism Spectrum Disorder
If your child is diagnosed with ASD, the doctor might refer your child for genetic counseling and testing.Genetic testing looks for causes of ASD but cannot be used to diagnose ASD. Some people with ASD have syndromic ASD, meaning that they have other specific features in addition to having ASD, such as looking different from other people in the family or having birth defects. Most people with syndromic ASD have a genetic cause for their ASDexternal icon.
Genetic testing is more likely to find a genetic cause for ASD if
- Your child or another family member has syndromic ASD
- A family member has an ASD-related genetic change found through genetic testing or
- Multiple family members have ASD.
The most commonly ordered test for people with ASD is called a chromosomal microarray . This test looks at chromosomes to see if there are extra or missing parts that could cause ASD. CMA finds a genetic cause in 5% to 14% of people with ASDexternal icon who have the test.
In addition, children with ASD should be checked for genetic disorders that can cause ASD, including the following:
- Rett syndromeexternal icon: This disorder mainly affects females. About 4% of females with ASD have Rett syndromeexternal icon. Rett syndrome testingexternal icon should be considered for females with ASD.
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How To Get A Diagnosis
Online screening tools can help parents and caregivers decide whether to seek further specialist help.
If a person wants to confirm an ASD diagnosis either in themselves or a child, they should speak to a doctor. Parents should talk to their pediatrician if they have concerns about their child having ASD.
A doctor may provide additional screening tests. Depending on the results, they may refer people to other specialists.
There is no cure for autism, but many people with the condition can live independent lives.
When a child receives a diagnosis, it is possible to include educational and behavioral interventions. These children with their social and language skills. Examples of treatment approaches include:
- Applied behavior analysis: Uses behavioral reinforcement strategies to encourage certain behaviors. The different techniques include:
- Discrete trial training
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What Happens To My Score
In your response summary you will see the entries you have made. This will give you a good indication of where you stand. A separate email has already been delivered to your inbox with details of your submission and your score analysis.
This link should also be there on your email as well. There is a Print button at the end on this analysis page that you can use to get a printout and keep for your reference.
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Cma An ‘excellent’ Test
The new study confirms smaller studies finding that CMA is an excellent test, says Randi Hagerman, MD, medical director of the MIND Institute at University of California, Davis, and an autism expert.
”This demonstrated that the CMA picked up abnormalities at a much higher rate ,” says Hagerman, who reviewed the findings for WebMD.
The patients studied, she says, were a relatively high functioning group of people with ASD. That population, she says, ”reflects more closely what clinicians are seeing now in their office.” She says the rate of intellectual disabilities of those with autism and ASD has gone down in recent years.
The bottom line of the study? “You should do genetic testing on everyone with autism or ASD,” Hagerman says. “That’s been the recommendation for years.” With the new study findings, she says, the message is clear that “you should include CMA.”
Doing all three tests would be ideal, she says. But if you can only do two, she would pick fragile X and CMA. If someone has autism or ASD, she says, the CMA test “is the No. 1 test to yield an abnormal result.”
All Diseases Have A Genetic Component But There Is Still A Lot To Be Learned About The Extent And Detail That Genes Play In Diseases
Understanding the genetics and the genetic disorders that can take place behind diseases is critical to developing early diagnostic testing, new treatments and possible interventions to either help or minimize the impacts of a disease or the depth of its severity.
Identifying genetic disorders and their causes helps to determine if a mutation was inherited or if it was developed due to external environmental causes such as viruses or toxins.
There are several types of genetic tests that can be performed as a way to identify genetic disorders:
Prenatal diagnostic testing can be used to detect changes in a fetuss genes or chromosomes and is performed when couples have an increased risk of having a baby with a genetic disorder. A tissue sample is taken through amniocentesis or chorionic villus sampling.
Newborn screening provides early detection of certain diseases that can help intervene to prevent the onset of symptoms or to minimize the severity of the disease.
Carrier testing helps prospective parents learn if they have recessive alleles for genetic diseases such as sickle cell anemia, cystic fibrosis and other related conditions. This type of testing is generally carried out for people who have a family history of a genetic disorder or in certain ethnic groups that have been identified as having a greater propensity for a genetic condition.
If both parents are tested, the test can provide information about a couples risk of having a child with a genetic condition.
How Do You Talk With Your Child About Their Autism Diagnosis
It can be hard to decide what and how much information to share when talking to your child about their autism diagnosis. Setting a positive tone when discussing autism spectrum disorder and making sure you understand what your child is truly asking is very important. Establish a positive attitude about their differences from the outset, then answer their questions simply and honestly. If your child is of reading age, you may want to consider finding some childrens books on the topic of autism spectrum disorder to read with them.
Two Sides Of The Debate
Understandably, PGD is a technique that causes concern within certain parts of the autism community. Some autism advocates argue that PGD will eventually be used to select autism out of the gene pool.
This is certainly something I would not want. I have forged dozens of friendships with autistic people and their families, and have seen first-hand the skills, talents, smiles and diversity these individuals bring to the lives of those around them. The world is immeasurably improved by their presence in it.
I also imagine how I would feel if I were a person with autism and I heard a discussion about prenatal screening for me. I imagine how I would feel if the all clear had been given to screen embryos for short-sightedness or for extraversion, both of which are part of who I am.
Angry, outraged, and certainly more than a little unwanted.
The flip-side of the debate is that autism sometimes associated with significant disability that can affect quality of life.
It is without question that a persons life would be improved if they were free from intellectual disability, if they had the facility to communicate more freely, and if they had the capacity to live independently.
To want a person to live without disability does not diminish in any way our love for people in these circumstances, nor their irreplaceable importance in our lives.
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Genetics Dominate The World Of Autism Spectrum Disorders
Merogenomics recently attended the annual human genomics conference put on by the American Society of Human Genetics. We liked the online style because it allowed us to really take the time to explore all the different topics. One area of interest with multiple talks was dedicated to the genetics of autism and so we took the opportunity to delve into this important topic.
Everyone knows how the incidence of autism has been on a constant rise over the years . But what is not broadly understood in the general public is that genetics play a massive contribution in autism spectrum disorders. In turn, it is also not widely known that identifying the genetic factors in an affected autistic individual can help to more specifically discriminate the condition. This is because an autism diagnosis is made based strictly on behavioural features without the need to understand what is actually causing these symptoms. Consequently, genetics does not have to play a role in diagnosis.
Limits Of Autism Testing
Genetic testing can help parents get early intervention, Wu says. And it can help them in family planning, predicting the risk of having another affected child.
But genetics still only explains a minority of autism and ASD cases, Wu says, perhaps up to 15%. CMA can help detect about half of that 15%.
One other obstacle, Hagerman and others say, is that insurance does not always cover the costs. Fees vary, but the CMA alone can cost about $1,200 in California, Hagerman says.
Andy Shih, PhD, a spokesman for Autism Speaks, cautioned in an email to WebMD that “this CMA methodology is not yet ready for commercial application and does not specifically test for autism and therefore is a tool of limited value for concerned parents and families.”
He calls for more research on the new test, “especially on how to interpret the findings from CMA relative to autism risk, before it can help families make more informed health care decisions.”
Early Detection Early Intervention
It is comforting to believe that ASD prenatal testing is mostly about helping scientists discover more about genetic variations linked to autism, and identifying autism at the earliest opportunity to allow parents to plan ahead. The argument is convincing when you consider studies examining the effect of early autism intervention, especially with regards to brain plasticity . In this study, the authors concluded that early intervention enhancing social attention, should lead to alterations in brain activity.
A prenatal test detecting autism in a fetus could provide parents with enough time to shift expectations, appeal for all the support theyll need, and prepare themselves emotionally and financially. But preparing for a life of care will also bring up the inevitable question for some parents of whether it would be easier not to embark on the journey at all.
Looking at a study about the estimation of people with Down syndrome in Europe, a reduction of 27% was estimated, meaning approximately 417 000 people with Down Syndrome were living in Europebut without elective abortions there may have been an estimated 572 000.
Another review tells us that between 71 and 100% of women decide to terminate a pregnancy with fetal Down syndrome. In countries like Denmark and Iceland the statistics are close to 100%.
What Genetic Testing May Tell You
Genetic testing cannot tell you anything definitive about autism at this point it may be able to tell you about some other genetic conditions, should you be concerned. One of these tests may inform you of:
- The chances that your future children may develop autism.
- What kinds of services and treatment may best benefit your child.
- Other health issues or concerns related to the genetic mutation that caused your childs autism. Some genetic disorders have been associated with autism. These include tuberous sclerosis, benign tumors that grow on the brain and other organs, and Fragile X syndrome, a condition that causes intellectual disabilities.
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