The Kaiser Permanente Autism Family Biobank: A Resource for Research on Autism Spectrum Disorders
While specific causes of autism spectrum disorders (ASD) have not been identified, the genetic contribution to ASD etiology is strongly supported by twin and family studies. A growing body of evidence also supports the role of environmental factors, especially those occurring during the gestational or early postnatal period.
To collect biological specimens from 5,000 trios comprised of a child (minor or adult) with ASD, and his/her two biological parents, with the ultimate goal of creating a resource that will promote and facilitate research on genetic and environmental influences of ASD and response to treatment.
To be eligible the affected child must be a Kaiser Permanente Northern California (KP) member with an ASD diagnosis recorded in the electronic medical record, while parents need not be KP members. Prior to launching recruitment, a focus group explored concerns regarding use of genetic information in clinical care, use of genetic information in research, and biospecimen collection. Recruitment involves sending by mail or email monthly batches of invitation letters, with intensive follow-up by phone, email, and/or mail. Adults with ASD receive an individual letter, independent of their parents. Parents and adult children consent online or by phone; parents consent for minor or incapable children. Upon consenting, participants choose to donate blood or saliva. Blood is drawn at KP facilities, and saliva kits are mailed to participants’ homes. Two instruments will be collected online, the SRS-2 (from all three family members) and a Family History Questionnaire. Biospecimen and survey data will be combined with longitudinal clinical and phenotypic data stored in the electronic medical record. After one year of recruitment, qualitative interviews with parents of affected children will take place to find out barriers and facilitators to study participation, and recruitment materials will be modified as needed. Recruitment is scheduled to take place from 2015 to 2018.
At the start of recruitment in July 2015 we identified 17,370 KP members with an ASD diagnosis recorded in their medical record. In terms of age and sex, 8% were <4 years of age, 40% between 5-14 years, and the rest 15 years and older; 80% are male. Almost half are white, 21% Hispanic, 17% Asian, and 8% African American. By November 2015, 684 individuals consented to participate, representing 248 unique families (192 trios, 52 duos, and 4 singles). The majority of those who consented chose saliva over blood: 82% of children, 79% of fathers, 74% of mothers. A total of 323 biosamples have been collected to date - 108 from children, 111 from mothers, and 104 from fathers.
The KP Autism Family Biobank will serve as a resource to promote and facilitate autism research and will be available to researchers around the world. An access review committee will be formed to vet proposals for use. In addition, genetic data generated from the specimens and selected phenotypic data will be shared without identifiers with the Simons Foundation and deposited in the National Database for Autism Research (NDAR).