Q&A with Brenda Finucane: Constructing pipelines for genetic checks for autism | Spectrum
Missed Opportunity: Few autistic people undergo genetic testing despite being recommended by experts.
SDI Productions / iStock
Deputy Director, Institute for Autism and Developmental Medicine at Geisinger
When Brenda Finucane began her work as a genetic counselor, few DNA testing tools were available to her and her colleagues. They relied mainly on karyotyping, which is a process of examining blurry images of a person’s chromosomes under a microscope for irregularities. But this technique could help them identify autism-related variants in only about 3 percent of the autistic children tested, she says.
Recent advances in technology enable geneticists to recognize more subtle variations in DNA. All in all, they can find genetic variants associated with autism in about 25 percent of people with autism – information that has led to clinical diagnoses and personal benefits for these individuals and their families.
Since 2013, the American College of Medical Genetics and Genomics has recommended that all autistic boys and men, and some autistic girls and women, be tested for Fragile X syndrome. It also recommends that all autistic people undergo a chromosomal microarray test to identify any deleted or duplicated segments of their chromosomes. And in July, the organization updated these guidelines, suggesting that children with intellectual disabilities or other developmental disorders should also go through entire exome sequencing to detect finer-grain genetic changes.
However, only 3 percent of autistic children get the recommended tests. And many autistic people and their families are not even aware that testing is an option.
“It’s very frustrating,” says Finucane. “People won’t ask about something that they don’t know is available.”
Several obstacles prevent people from getting tested, says Finucane, who is now the assistant director of the Institute for Autism and Developmental Medicine at Geisinger in Lewisburg, Pennsylvania. She spoke to Spectrum about these barriers and how clinicians and geneticists can work together to overcome them.
spectrum: Why Is Genetic Testing Important For Autism?
Brenda Finucane: The purpose of diagnostic genetic testing for children and adults with autism is to identify an underlying genetic cause of autism. Knowing a specific genetic cause can sometimes help with treatment. For example, a finding might indicate that a person should be monitored for certain conditions, such as kidney problems, that are known to be related to a genetic disorder. Genetic testing can also provide information about inherited causes of autism and the possibility that future children in the family may also have the disease.
For some people, knowing that autism is due to a genetic disorder can reduce feelings of guilt or stigma; the genetic condition is not something that anyone caused. And when they have a diagnosis, many are very grateful because it puts them in a group of other people who have the same specific genetic disorder.
S: Who is being genetically tested now?
BF: Recommendations for genetic testing of people with autism have been around for many years, but surveys show the majority never get fully tested. Those who do this are often young children who are treated in large university hospitals, and usually the tests are done through referral to a medical genetics department. The majority of people living with autism go untested and are unaware of the cause of their autism.
Since genetic tests are clinically recommended for people with autism, they should be offered as part of their medical care and are often covered by health insurers. In addition, some research projects such as SPARK, Perform genetic testing and return the results to families when they find a diagnosis. [SPARK is funded by the Simons Foundation, Spectrum’s parent organization.]
S: What’s stopping most people with autism from having diagnostic genetic tests?
BF: Sometimes specialists assume that a child or adult with autism has already been referred for genetic testing by other health care providers, and they don’t do this themselves.
It’s not uncommon to encounter older children and adolescents with autism who have been to a wide variety of specialists – neurologists, psychiatrists, developmental pediatricians – and they have never been explained the value of genetic testing.
A 2017 study found that many child neurologists and developmental pediatricians did not order recommended genetic tests for children with autism or ordered inappropriate or outdated tests that did not meet current standards. Recently, a 2020 study found that only 3 percent of autistic children had completed the recommended genetic tests, citing barriers such as their doctor’s lack of familiarity with ordering genetic tests.
S: What are your recommendations to improve access to diagnostic genetic testing?
BF: We need to make sure that specialists – especially neurologists, psychiatrists, and developmental pediatricians who treat the majority of people with autism – are all aware of the latest guidelines for genetic testing. And we need to develop very practical strategies on how to do genetic testing seamlessly on a busy day.
Ideally, we would be happy if these specialties come together and work out new guidelines together. In the meantime, follow the recommendations of the genetics experts at the American College of Medical Genetics and Genomics.
S: What can clinicians do to meet these guidelines?
BF: Clinicians need to create a protocol to get everyone tested appropriately. You should choose a laboratory and send all samples there. Talk to the lab about optimizing the process and an insurance plan.
Clinicians should contact a genetics office or medical genetics department in their facility or region to set up a referral pipeline. You can ask a geneticist to work with office staff and prepare an appropriate, verified letter to be sent to all patients with negative results. And then just pass the positive tests and the tests that identify variants of uncertain significance to medical genetics.
S: What kind of genetic training do you think clinicians need?
BF: I think that historically we have made a mistake in trying to turn these specialists into “mini geneticists”. Instead, let’s train them on practical things: how to set up your insurance, how to set up your pipeline to send samples to labs and refer patients who need further testing.
You should know why this is important. Give them actual cases – for example, a person with tuberculous sclerosis who has autism who is now actually taking a drug that will reduce the kidney tumors they get, which is one of the leading causes of death in this syndrome. It’s about why this is important for families, why it is important from a clinical point of view, and how it will help drive therapeutics in a very targeted manner in the future.