The Seaver Autism Center for Research and Treatment partnered with Centro Ann Sullivan Del Perú to serve children with autism spectrum disorder and their families. Above, Pilar Trelles, MD, Assistant Professor of Psychiatry at the Icahn School of Medicine at Mount Sinai, conducting an evaluation with a family in Lima, Peru.
Genomic research is now an integral part of the study and treatment of autism spectrum disorder (ASD) and related neurodevelopmental disabilities, so it is crucial to include more ethnically and racially diverse populations, said Pilar Trelles, MD, a psychiatrist and researcher at the Seaver Autism Center for Research and Treatment, who was the featured speaker for a virtual talk hosted by the Office for Diversity and Inclusion (ODI) at Mount Sinai. The session, “Forming Community Ties to Improve Diversity in Autism Genomic Research,” is available here.
The talk was part of the Raising Disability Awareness Virtual Talk Series, launched by ODI in 2020, which featured speakers from around the Mount Sinai Health System and the community to raise awareness and promote an inclusive and equitable work place and health care environment for people with disabilities.
“Data contained in the National Human Genome Research Institute and European Bioinformatics Institute Genome-Wide Association Studies Catalog indicate that most of the individual genetic samples—78 percent—come from individuals of European descent,” said Dr. Trelles, Assistant Professor of Psychiatry at the Icahn School of Medicine at Mount Sinai. “And this is translating into clinical practice, because we are learning less about individuals of diverse ancestry.”
Pilar Trelles, MD, is a psychiatrist and researcher with the Seaver Autism Center for Research and Treatment at the Icahn School of Medicine at Mount Sinai.
Dr. Trelles and other staff at the Seaver Autism Center are dedicated to caring for people of all ages with ASD, leading clinical trials, and furthering research into drug development, molecular targeting, neurology, and genomics. She said that disparities and barriers exist overall for people with ASD who belong to minority groups. Some of these barriers include lack of trust in research—often based on historic inequities in science and health care—limited representation of minorities in science, a lack of cultural competency among physicians and scientists, and a lack of infrastructure.
To combat disparity and increase the accessibility to care, Dr. Trelles collaborated with families and children with ASD in Peru, creating an international partnership between the nonprofit Centro Ann Sullivan Del Perú and the Seaver Autism Center. The partnership is intended to “promote family and caregiver empowerment, educational programs, and collection of bio-specimens for genetic analysis and clinical information,” she said. The goal for the future of health care for people with ASD and their families is to develop a strong partnership where there is a clear and direct benefit to the community.
“It cannot be a one-time thing, it has to be a sustainable model that will last over time,” Dr. Trelles said. As a result of increasing accessibility where possible, her team found that compared with 2016, there has been a significant increase of Asian, Black, mixed ancestry, and Hispanic people in research participation.
Dr. Trelles ended her talk on a hopeful note. “The idea is to work with communities that could benefit from the expertise that we have, where we can actually bring a clear benefit, and provide better care and education for families,” she said. “So that we can build trust and transparency moving forward.” For more information, visit the Seaver Autism Center site.
Additional disabilities-related resources are available on the Mount Sinai Office for Diversity and Inclusion site.