International Meeting for Autism Research: IAN Genetics: An Automated Web-Based System for Rapid Phenotyping, Enrollment, and Genetic Sample Collection

IAN Genetics: An Automated Web-Based System for Rapid Phenotyping, Enrollment, and Genetic Sample Collection

Thursday, May 12, 2011
Elizabeth Ballroom E-F and Lirenta Foyer Level 2 (Manchester Grand Hyatt)
2:00 PM
A. R. Marvin1, H. Lee2, J. Nestle1, J. N. Constantino3, C. Anderson1, T. Zandi1, E. Yahudah1, S. S. Marvin1, J. K. Law1, P. A. Law1 and S. F. Nelson2, (1)Kennedy Krieger Institute, Baltimore, MD, (2)UCLA, Los Angeles, CA, (3)Washington University School of Medicine, Saint Louis, MO, United States

A sufficient supply of genetic samples does not exist for comprehensive identification of autism risk alleles. Lee et al. (2010) established accuracy via clinical confirmation of a web-based approach to rapid phenotyping of autism using parent report of community diagnosis and scores on the SCQ-Lifetime.


To create a web-based, automated mechanism for large-scale rapid phenotyping and biomaterials collection.


·     Eligibility: Aged 4-17 years; Simplex ASD (and one unaffected sibling, if any) or twin set with one or both siblings affected; Participation (or willingness to participate) in US autism registry/database (requiring professional diagnosis of ASD to join).

·     A protocol was developed using LabCorp as the primary blood-draw collection, genomic purification and storage site.

·     An online consent was integrated into the registry form/questionnaire set.

·     Upon electronic consent, the system generates and emails the following materials to the consenting parent within 1 minute (a copy is also sent to the study’s email so that it can be resent upon request):

      o  Welcome Email;

      o  Instruction sheet (PDF attachment) stamped with child's name, Research ID, and DOB; contains link to LabCorp site and a social story;

      o  LabCorp Requisition (PDF attachment) stamped with child's Research ID, plus a second explanatory page for LabCorp staff. Does not contain PHI.

·     Within one minute of receipt of weekly LabCorp report, the system generates emails containing Amazon gift codes. If a completed SCQ-Lifetime is not detected, the system generates an “SCQ reminder” email. Once the subject completes the SCQ-Lifetime, the system generates the “gift code” email.

·     An email is generated and sent to the study email box when an unconsented child has “aged out” of the study. Currently, manual intervention is required to check whether siblings should be added or removed from the study, although a web-based tool helps staff add or remove subjects.

·     A web-based tracking system indicates status, days-since-consent, distance from nearest LabCorp, email, etc. This is used in reporting and in follow-up communications with parents of children consented but for whom we have no record of the blood-draw being completed.

·     A study was performed to determine barriers to completion of blood-draw among consented participants. As a result, the follow-up procedure includes forwarding of the original welcome email and attachments (which, in many cases, have been misplaced). We are also developing an alternative mechanism to enable participation for those unable to reach a LabCorp site.

·     Currently, children are not automatically added to the study: a list of qualifying children is uploaded into the system, which then assigns the online consent into each child’s form/questionnaire set.


·     As of 12/10/2010, 433 children (affected=271, 63%) from 43 US states have been consented, with 121 (affected=72, 60%) reported as completing the blood-draw so far.

·     The system has enough capacity to handle all requests without concern for oversaturation.

·     Automation of the workflow has minimized staffing needs.


Web-based automation of subject recruitment and coordination of sample collection has been shown to be successful and cost effective.

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