Too many children with autism miss genetics evaluations

Parents and other medical specialties and professionals need education, study says

Parents of children with autism spectrum disorders and medical specialists who see them need more education about the value of a genetics evaluation to determine the causes of the disorder, a recent study concludes. Up to 90% of autism has a genetic basis, and microarray testing can identify a cause in almost 30% of children, says an unpublished draft update to 2008 American College of Medical Genetics (ACMG) guidelines on autism testing.

Having a specific diagnosis can help guide medical management of autistic children. For example, identified PTEN mutations make necessary testing for associated cancers. Genetics evaluations give families who receive diagnoses accurate information about recurrence risk and help families who do not get diagnoses to better understand the multiple factors involved in genetic inheritance of autism, according to a recent study [Wydeven et al., 2012].

Just 20% of parents surveyed for the study said that their children had seen a geneticist, while 32% had undergone genetic testing. Compared with parents whose children had not seen a genetics professional, these parents were more likely to have been referred by a primary care provider, to have asked for the referral themselves, and to have known someone with genetically caused autism.

These findings demonstrate that nongenetics professionals and families may lack education about the benefits of genetic evaluations for children with autism, despite American Academy of Neurology, American Academy of Pediatrics (AAP), and National Society of Genetic Counselors recommendations that families of children with autism be offered a comprehensive genetics evaluation that includes genetic counseling, the authors note. They urge better education of nongenetics medical specialists and families about the value of genetic evaluation and better communication with other medical specialists.

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The Study

Researchers led by Stanford University geneticist Jonathan Bernstein, MD, analyzed survey responses from 155 families enrolled in regional and national autism databases. Eighty percent of respondents reported that their children had not seen a genetics professional. Among the 20% who said their children had, 77.4% reported that the children had genetic testing. Only 20% of parents whose children did not see genetics professionals reported their children's receipt of genetic testing.

Physician referral and suggestion are major factors in children receiving genetics evaluations, the survey found. Among parents whose children saw a genetics professional, 45.2% did so because of pediatricians' suggestions, 74.2% received a pediatrician or primary care physician referral, and 54.8% asked for one.

Among parents who reported their children didn't see genetics professionals, 91.2% indicated a willingness to go if given a referral. These findings suggest the majority of nongenetics providers don't routinely order genetic testing for children diagnosed with autism or suggest medical genetics evaluations, while parents seem interested in genetic testing, the researchers write. Strategies that aim to obtain more genetics evaluations for children with autism spectrum disorders should target other medical specialists who see these children, the authors conclude.

Getting the Word Out

Geneticists are already educating other specialties about the value of evaluations for children with autism. To this end, many geneticists give presentations during their institutions' grand rounds that emphasize the evaluations' benefits, while others seek a wider audience. “I talk about this all over the country and I publish in other specialties' journals,” says Bradley Schaefer, an author of ACMG's 2008 testing guidelines and forthcoming update, as well as Section Chief, Division of Genetics and Metabolism, University of Arkansas School of Medical Sciences.

Both Dr. Schaefer and Brenda Finucane, MS, CGC, President of the National Society of Genetics Counselors, emphasize education not only for other medical specialties, but also for speech and language pathologists, psychologists, and other professionals who administer therapies to children with autism. “We need to do a better job of educating nonmedical colleagues who have more interaction with families of autistic kids,” says Finucane, who serves as Executive Director of Elwyn Genetics, an organization that educates professionals and families about genetic causes of developmental disabilities.

Contributing to lack of awareness of genetics evaluations' value among parents is lack of interaction between medical professionals and others who work with autistic children. “The genetics/medical and special education/behavioral fields are two different worlds,” Finucane explains. Her organization aims to change this situation by focusing its efforts on professionals in school settings. Children with autism generally don't see physicians much more than other children, while parents have regular interactions with special education teachers and other school professionals, she points out.

Dr. Bernstein and colleagues are planning to survey nongenetics medical specialties to examine their perceptions of genetics services, relevance for families, and reasons for providing referrals or not, with an eye toward developing useful education and awareness tactics.

Triage with Other Specialties

Meanwhile, children whose parents do seek genetics evaluations face long waits, up to six months in some areas. Those waiting lists could become longer if more pediatricians follow recommendations from both ACMG and AAP. AAP's recent suggestions that pediatricians screen all children for autism at ages 18 and 24 months will result in more diagnoses, while ACMG says all diagnosed children's parents should be offered genetics evaluations.

Some geneticists and genetic counselors say that, given already long waiting lists, a triage model is worth considering. It is used for other conditions, Dr. Bernstein points out, noting that pediatric pulmonologists do some genetic testing for cystic fibrosis. Stanford is currently exploring different autism testing triage models involving geneticists, developmental pediatricians, psychiatrists, and neurologists.

A triage model is working at Children's Hospital Colorado, where geneticist Ellen Elias, MD, directs the Special Care Clinic. Developmental pediatricians are now ordering first line genetic tests including microarray and fragile X, notes Dr. Elias, who serves on an AAP committee that is updating 2007 autism guidelines.

Finucane suggests giving first-line genetic tests when children receive autism diagnoses, which can speed diagnosis for some children and “doesn't take geneticists and genetic counselors out of the loop.”

It's important to include proper education for families in any triage model. ACMG's draft update to its autism testing guidelines urges that families be informed about the strong genetic basis of autism, the fact that testing exists, costs in both time and money, and the chance that testing will identify a cause.

“Missing an important genetic factor in autism could have dire consequences,” says Dr. Elias. “Genetics is a rapidly evolving field that has ever more to offer, so pediatricians need to be aware of the value of a genetics evaluation.”