Can you genetically test for autism

For example, a bone in his foot is developing a deformity, warping his arch and making it difficult to walk. His doctors had initially suggested surgery to correct it, but they changed their minds when the genetic results made it clear the problem was neurological and would recur. They instead referred James to a physical therapist. Some mutations reveal that the carrier is prone to medical conditions such as seizures, obesity or kidney problems, for example.

The information can also connect people who share a mutation; some of these individuals and their families have even fostered research by discovering shared traits. And knowing the specific risks associated with a mutation helps families make decisions about having more children.

Even so, most autistic people and their families never gain access to that information: In the United States, roughly one in three children with autism is offered genetic tests. The numbers tested are higher in some countries, such as France and the United Kingdom, and lower in others , such as Austria and most resource-poor nations.

As the cost of the tests drops, though, some specialized centers are beginning to offer them to anyone with an autism diagnosis. The knowledge gleaned as a result could influence care, not just of that individual, but of anyone who has that mutation, says David Ledbetter , chief scientific officer at Geisinger Health System in Danville, Pennsylvania.

For a family seeking a genetic test for their autistic child, there are a few options. The American Academy of Pediatrics and the American College of Medical Genetics and Genomics both recommend certain tests, including chromosomal microarray analysis, a technique that detects large duplications or deletions of DNA.

If that does not yield a result —which happens 80 to 85 percent of the time—the guidelines advise clinicians to test for two syndromic forms of autism.

However, most people never hear about these tests. For example, one survey of pediatricians in Utah found that 70 percent had never ordered genetic tests for autism or had done so only after a specialist recommended it. Routine microarray testing would have spared Calleen Kenney years of worry and guilt had it been available when her daughter Maia was born 20 years ago.

When Maia was 2, doctors tested her for a few known conditions associated with autism, including fragile X and Angelman syndromes. When Maia was diagnosed with autism about a year later, Kenney started questioning everything she had done, from vaccinating Maia to things she had eaten when she was pregnant. It was only in October, when Maia finally had a chromosomal microarray analysis, that Kenney learned her daughter has a deletion of a genetic region called 22q The deletion leads to Phelan-McDermid syndrome , a condition Maia had never been tested for.

Kenney also stopped blaming herself and trying to change her daughter. Maia has become more anxious over time and is terrified of doing anything on her own. Before the test, Kenney had tried to teach Maia to be more independent, which only made Maia more anxious and angry. But now, recognizing that Maia is the way she is because of biology, Kenney has hired extra caretakers to make sure Maia always has help. In many other cases, the mutation interferes with a single gene—and there might be hundreds of these genes , according to the latest estimate.

But the gene panels many commercial labs use include few genes from this list, instead favoring those associated with known syndromes. One study last year found that the gene lists from 21 companies have only one gene in common ; only 12 included CHD8 , often cited as a top autism gene.

Hoang and her colleagues are part of an international working group putting together a list of genes that have strong clinical ties to autism. They aim to make the list and a set of guidelines publicly available and to update both regularly. Is there a genetic test for autism? A genetic test cannot diagnose or detect autism. Roughly genes have clear ties to autism , but no single gene leads to autism every time it is mutated. For example, only about one in four people missing a stretch of chromosome 16 called 16p This and other mutations are also associated with other conditions, such as epilepsy or intellectual disability.

Why would an autistic person get a genetic test? If a test reveals a harmful mutation with known ties to autism, the result could give the autistic person and her family an explanation for the condition.

Some families also find emotional and practical support from others dealing with the same mutation. There are no drugs tailored to particular autism mutations. But the mutations are often linked to other health problems , such as epilepsy, kidney problems or obesity, so having the information could help prevent or treat those problems. What types of genetic tests are available?

There are four main types of tests. The oldest is karyotyping, the inspection of chromosomes under a microscope. This test reliably detects changes to segments larger than 10 million base pairs. A test called chromosomal microarray analysis identifies duplications or deletions of DNA too small to show up on a karyotype.

Still, a karyotype is necessary to identify instances in which chromosomes evenly trade a chunk of genetic material. To detect even smaller duplications or deletions, and single base-pair swaps, clinicians must sequence or scan for mutations across single genes. Some clinicians use commercial autism tests that sequence a predetermined set of genes, but these panels often do not include top autism genes 2.

Vanzo, Megan M. Martin, Ling Ling, Solange M. Aliaga, Minh Bui, David I. Francis, Hope Twede, Mike H. Field, Jonathon W. Morison, David J. Amor and David E. DOI: The Murdoch Children's Research Institute MCRI is the largest child health research institute in Australia committed to making discoveries and developing treatments to improve child and adolescent health in Australia and around the world. They are pioneering new treatments, trialling better vaccines and improving ways of diagnosing and helping sick babies, children and adolescents.

It is one of the only research institutes in Australia to offer genetic testing to find answers for families of children with previously undiagnosed conditions. About Lineagen Lineagen assists families and their healthcare providers access high quality genetic tests with a goal of helping personalize medical management for those with autism spectrum disorder ASD and other neurodevelopmental disabilities.

Lineagen also seeks to speed up the diagnostic process, so we offer m-chat.