Unlocking Autism: Illuminating the Complexities of Genomic Science
Autism — now known clinically as autism spectrum disorder, to reflect its wide range of symptoms and severity — has captured headlines in recent years. According to the Centers for Disease Control and Prevention (CDC), it affects one in 68 children. While considerable resources have been devoted to finding the causes and effective treatments for autism, these goals remain elusive.
Jennifer Singh, an associate professor in the School of History and Sociology, chronicled the history of genetics-focused autism research. The project expresses her longtime interest in areas where science, technology, and society converge with health. Her research illuminates larger questions about how biomedical research priorities are set and, ultimately, who benefits from the massive research investments of time and money.
Singh’s research was an in-depth sociological study of the social, cultural, and political contexts surrounding the study of autism genetics. She examined why the central focus of autism research has a genetic focus, who was involved in setting this priority, and what the consequences are for various stakeholders.
Her research included interviews with scientists who conduct autism genetics research, parents who donate their family's blood and medical information to science, and adults who are living with autism everyday. Singh's research investigated multiple perspectives on the effects of autism genetics on daily life, research priorities, and how these perspectives differ from each other.
Singh published this research in the book Multiple Autisms: Spectrums of Advocacy and Genomic Science. In the book, she argues that the persistent focus on genetics and now genomic science is fragmenting, reclassifying, renegotiating, and reinventing the social and scientific meanings of autism rather than determining a specific cause of a single disease.
Singh’s research for Multiple Autisms is based on a study she started as a Ph.D. student in sociology at the University of California, San Francisco, along with a pediatric geneticist and a neuroethicist as co-researchers. This was hardly her first foray into interdisciplinary work, however. In between completing a bachelor’s in biological sciences and a master’s in public health, from California Polytechnic State University and the University of Washington, Seattle, respectively, she worked in the biotech industry in the San Francisco Bay Area for 8 years. She subsequently worked as a research fellow for the CDC examining programs that integrate genetic technologies into public health practice. Her current research project is also based on an interdisciplinary collaboration with developmental pediatrician, Dr. Leslie Rubin, at the Autism Clinic at Hughes Spalding, an affiliate of Children's Healthcare of Atlanta, whose patients rely primarily on Medicaid. Together they are investigating the social and structural inequalities to autism diagnosis and services.
What Have You Learned?
"From interviewing family members as well as individuals with autism, I've learned that the benefits coming from genetics-focused research haven't necessarily been panning out for them. They have different concerns like, 'How am I going to teach the necessary life skills so my child can be a contributing member of society?' or 'Medicaid benefits run out when my child turns 21. What am I going to do after that?' These are real-world concerns that have nothing to do with genetics."
"There has been a billion dollars of public and private money invested to understand the genetics of autism, and we still haven't even isolated an autism gene. Perhaps we should be looking at the kinds of services that would help people living with autism, or researching other potential causes of the disorder."
"One of the things I hope this research does is become part of a larger conversation about how knowledge is produced — who is producing it and who is creating the priorities for the kinds of research questions we ask."
In the Classroom
Singh has used her interdisciplinary research experience to inform her teaching practices, engaging students in the exploration of the multiple interactions and relationships among science, technology, and society.
She teaches an advanced course in the sociology of medicine and health that asks students to conduct research based on interviews with people experiencing chronic illness to better their understanding of how various social factors might shape a person’s experience with disease and illness. In Fall 2016, Singh developed and taught a service learning course based on student community engagement with local nonprofit organizations that serve social needs related to health.
“To truly understand emerging science and technology, you have to think about their social, cultural, and political contexts,” said Singh. “Similarly, it is important to show students how medicine is not necessarily objective and unbiased. Health inequalities are not based on our genes alone, but are shaped by social determinants, like poverty or racism, that affect health.”
Associate Professor, School of History and Sociology
Jennifer S. Singh is associate professor in the School of History and Sociology. She has a Ph.D. in sociology from the University of California, San Francisco and specializes in medical sociology and science and technology studies. Her research investigates the intersections of genetics, health and society, which draws on her experiences of working in the biotechnology industry in molecular biology and as a public health researcher at the Center for Disease Control and Prevention. In addition to research on the social and scientific understandings of diseases based on emerging medical technologies, Singh in also now focusing on the structural inequalities to autism diagnosis and services based on race, class and gender, as well as issues pertaining to transitioning adults on the autism spectrum.