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A New Instrument in Researchers' Toolbox: Autism Family Biobank

Marina Sarris
Interactive Autism Network at Kennedy Krieger Institute
Date Published: 
May 26, 2016

Photo of magnifying glass illustrating article about hunting for clues to autism through Autism Family Biobank researchIn the hunt for knowledge about autism, scientists have looked for clues within us (our genes) and outside us (the environment). A new project will provide an unusual resource for autism research by combining information about people's genetic makeup and their medical histories into one database.

Unlike other large autism projects, this one involves people who are members of the same health care plan. That means that their records are all in one place, providing researchers with a rich history of the environmental factors that can affect people's health, such as their illnesses, injuries, medications, and treatments.

The health plan, Kaiser Permanente Northern California, is hoping that 5,000 of its approximately 19,000 members who have autism will join – along with both of their biological parents – for a total of 15,000 participants. Families provide DNA samples and fill out brief surveys online. Researchers will pair their genetic and medical information, to create a database that could help answer vital questions about autism and improve treatment, said Lisa A. Croen PhD, principal investigator of the project, the Kaiser Permanente Autism Family Biobank. "That's really powerful data to partner with the genetic samples we're getting from members," said Dr. Croen, an epidemiologist.

Information that could identify each person is removed from the data. This process is called "de-identification" in research, and it is used to protect participants' privacy.

The Biobank received a $4.6 million grant from the nonprofit Simons Foundation Autism Research Initiative (SFARI) in New York. Among other projects, the foundation also provides funding to the Simons Simplex Collection (which studies families with one child with autism), the Autism Inpatient Collection (which studies people hospitalized for autism-related problems), and the Interactive Autism Network, an online autism database.

Kaiser Permanente is an attractive research partner for many reasons, according to geneticist Wendy Chung, MD, PhD, SFARI's clinical research director. It's a large health-care provider, with more than 3.8 million patient-members in Northern California. Also, its members tend to stay with Kaiser for long periods of times. In fact, some Biobank participants may have information dating back to their births already in the Kaiser database, if their mothers were members at the time, Dr. Croen said.

This "cohort "of people will help researchers study the causes of autism spectrum disorder (ASD) and other questions, Dr. Chung said.

In research, a cohort is a group of people with a common characteristic or experience – in this case autism. But in studying autism (or any condition), it is important to include different groups of people to account for varying experiences. For example, a hypothetical study of how autism affects one 8-year-old girl with autism, living in rural England, will tell you about that child, but the results may not apply to boys, to people who are older or younger than 8, or to people who live in other places. The larger the number of people in a study, and the more different they are from one another, the more likely the research results will apply to large numbers of people.

Photo of Kaiser Permanente autism researcher Lisa Croen PhDKaiser members are "a very diverse population, geographically, racially, ethnically, and in terms of age," Dr. Croen said.

The Biobank is actively recruiting families of children and adults up to age 26 to participate because they are easiest to find. Under the U.S. Affordable Care Act, parents can keep their children on their health insurance policies until age 26, making it easier for Kaiser to identify parent-child groups, she said. People age 26 and older are welcome to join, along with both their parents, Dr. Croen said.

Kaiser's collection of health data enables researchers to launch retrospective (looking backward) and prospective (looking forward) studies of autism. "We can harness all the information that has been recorded prior to signing up for the study, and all the information going forward as long as the [Biobank] participants are in Kaiser," Dr. Croen said.

Scientists could use the Biobank for "longitudinal studies" that track the participants in this cohort over time. With that information, they could see how autism develops or changes as a person gets older.

Researchers could also focus on smaller groups within the autism community. "You can imagine all sorts of different kinds of studies that can be done with this collection. Let's say a researcher is interested in a subgroup of people with seizures and autism. We can identify those individuals in the study who have been diagnosed with seizures in the past and at what age they were diagnosed in the Kaiser system," Dr. Croen said. That can be combined with genetic information about those participants.

Among other things, some scientists want to learn why seizure disorder is more common in people with autism than in the general population, who is at greatest risk of developing it, and how the two conditions affect one another.

A better scientific understanding of autism will lead to better treatments, researchers say. The Biobank project "is really a collaboration with our families to find new information that will lead to improvements in people's lives," Dr. Croen said. The Biobank is the latest autism project of Kaiser Permanente, where Dr. Croen directs the Autism Research Program. For a list of other research studies that have used data from Kaiser Permanente families, please see Autism Research Involving KP Families.

Photo of Dr. Croen reprinted with permission of Kaiser Permanente.

KPNC Health Services IRB / IRB Number: CN-14-2050-H / IRB Approval Date: 5/23/2016.

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Additional Resources: 

Kaiser Permanente Autism Family Biobank website.