TABLE 1.

Original Study Characteristics.

DUKE UNIVERSITY
Title of original study	Genetics and Pharmacogenetics of Epilepsy (“Epilepsy”)
Subjects	975 adults with epilepsy
Recontact for additional research described in consent form?	Yes
Options offered in consent form concerning recontact?	No
Consent form disclosures about results	Participants will not receive research results, but will be offered “incidental findings”
Consent form options about results	None
Method of recontact	Letter, then phone call
Individual results provided during recontact?	No
UNIVERSITY OF NORTH CAROLINA-CHAPEL HILL
Title of original study	Gene Modifiers in Cystic Fibrosis (“CF”)	Environmental Polymorphisms Registry (“Biobank”)
Subjects	1,306 adults and children with CF	15,000 adult “healthy volunteers”
Recontact for additional research described in consent form?	No	Yes
Options offered in consent form concerning recontact?	No	No
Consent form disclosures about results	Participants may receive results of “potential clinical consequence”	Participants will not receive results; may or may not receive results in follow-up studies
Consent form options about results	Participants can opt to receive results of “potential clinical consequence”	None
Method of recontact	In person, in the clinic	Letter
Individual results provided during recontact?	No, but told they have one of two genetic variants that may affect severity of CF	No, but told they have one of two genetic variants under study and there is no known relationship between these variants and any disease in people who do not have CF
SEATTLE CHILDREN’S
Title of original study	Autism Genetic Resource Exchange (“AGRE”)*	Study of Autism Genetics Exploration (“SAGE”)*	SEARCH for Diabetes in Youth (“Diabetes”)
Subjects	1,163 families with >1 child with autism	1,000 children (with autism or suspected ASD) and their parents	3,474 children with diabetes
Recontact for additional research described in consent form?	No	Yes	Yes
Options offered in consent form concerning recontact?	Yes	No, because recontact was part of the study design	Yes
Consent form disclosures about results	Participants will not receive results	Parents will be told if child has gene variation being studied. No other results given	Results may be given to diabetes provider
Consent form options about results	Option for return of specific test results (Fragile X testing and chromosomal analysis)	None	Participants can opt for their provider to receive results
Method of recontact	Phone call	Letter, then phone call	Letter
Individual results provided during recontact?	No	Yes, told that CNV was identified and referred to medical genetics clinic	Yes, preliminary results

^*SAGE and AGRE were combined in this analysis as the “Autism” studies; see Methods section for more details.