Autism genetics study, aiming to increase Black representation, pivots during COVID

The third funding cycle of the Autism Centers of Excellence (ACE) genetics program, launched by the National Institutes of Health in 2007 to study causes of autism and uncover potential new treatments, aims to fill a longstanding gap in autism research: inclusion of Black communities.  

“My background is in mental health within the African-American community,” says Erin Graham, Ph.D., the project manager for the University of California – Los Angeles (UCLA) study site for the current grant,  Autism Genetics Network, Phase II: Increasing the Representation of Human Diversity. “At the heart of it, the Autism Genetics Network  is a genetics study, but we also want to shed light on the particular barriers that African American families face that might be unique to this community.” 

Minority communities overall are not well-represented in current autism genetics research populations. (Autism Speaks supported the initial Autism Genetics Network through a partnership with the lead UCLA researcher Daniel Geschwind, funded by NIH, and the organization’s AGRE genetics program.)  

According to a 2013 report, Black people and their families make up as little as 2.3 percent of samples in major genetic repositories (including AGRE), a small fraction of a demographic group that makes up 12.3 percent of the U.S. population.  

“Better racial and ethnic diversity in genetics is essential to figuring out which genetic changes are universal to autism, rather than just one group of autistic people,” said Thomas W. Frazier, Ph.D., chief science officer of Autism Speaks. “That knowledge will help lead us to treatments that can be more effective for more people.” 

By targeting their study recruitment to heavily minority communities at four academic medical centers across the country – UCLA, Washington University in St. Louis, Emory University in Atlanta, and Einstein Medical College in New York City – researchers designed the current 5-year funding cycle to invest in Black communities and help overcome traditional barriers to research participation for minority families. 

These well-documented barriers include practical issues like transportation and child care, and more complex issues such as exclusion criteria that disqualify many Black families from participating and distrust in the Black community based on a prior history of exploitation by the medical and scientific establishment. 

Then came COVID, as the research team entered the third year of this funding cycle’s enrollment of  families. According to Dr. Graham, traditional outreach methods included in-person events such as special needs resource fairs where she could have conversations with hesitant families and validate their experiences. 

“I want to address their concerns about participating in order to earn their buy-in and informed consent,” Graham said. “We also want to maintain a presence in the community and not leave a vacuum after families participate in our research.  We want to give something back to families who have trusted us with their stories and given us their valuable time.”  

As in much of the healthcare world, many recruitment events simply transitioned to telehealth visits to discuss participation. The strategy of personal engagement and exposure through large events in broader settings would need to adapt. 

As the pandemic wore on, Graham began partnering with other community organizations around the UCLA site to offer families information and supports around autism while also educating them about the research opportunity with the Autism Genetics Network. She is also tapping targeted media outlets, such as Black community newspapers, with outreach and information about the study’s goals and the program’s long-term investment in supporting families. 

As part of the scientific objectives, and in direct response to the information gathered in the first two cycles of this study, the research team is motivated to support families who typically experience disparities like delayed diagnosis and lack of access to needed services (Pediatrics Link ), all of which have been exacerbated by the pandemic. 

In response to these data outcomes surrounding barriers to adequate intervention for black children, a  generous philanthropic donation to the St. Louis site, supported the cultivation of an Early Intervention program (with an intensive ABA-based clinic-based intervention and a parent-child training component) for toddlers enrolled in the Autism Genetics Network.  

 “In St. Louis, this program has helped us to continue our recruitment pace throughout the pandemic,” said Anna Abbacchi, project manager at the Washington University site in St. Louis, where the ABA program was suspended briefly due to COVID but re-started mid-year. “Families are struggling to access interventions for their children during this difficult time.” 

While the recruitment team has had to get creative, the clinical research team faced its own challenges. 

The study protocol involves confirming each participant’s autism diagnosis through the Autism Diagnostic Observation Schedule, a structured observation conducted by a certified clinician  – and which is not valid when done via telehealth or while wearing masks. 

The research team ultimately chose a valid telehealth diagnostic tool called the CARS-2 or Childhood Autism Rating Scale, second edition. The clinical team was trained on a modified version of the measure, easily implemented via telehealth, to keep the study moving forward. 

While meeting the study’s primary need to have a valid diagnosis confirmed in the virtual setting, the CARS-2 offers another advantage: Clinicians can see children in their home environment. The  clinician’s observations of the child’s interactions with the available toys, environment and their parent/caregiver are key to the diagnostic process.   Parents have expressed appreciation for their role in this assessment, as it gives them a sense of contribution to the process, Abbacchi said. 

Ultimately, in addition to the incentives and community relationships that have been built into the study design, families who participate also come away from the experience with something tangible. The study team provides a report about their child’s outcomes on the study’s standardized measures, along with clinical referrals and community resources. Although this is not the same as a clinical assessment, it  can be  used to advocate for their child as part of their healthcare and school teams and out in the community. 

 “Many of these children have already lost ground by being diagnosed later, they have access to  fewer therapies, and now they’ve lost a year as a result of  the pandemic,” Abbacchi said. “As a research network, we are very concerned about these obstacles, and what we can do to systemically support black families additionally burdened by these factors.”