Table 6.

Example of stakeholder quotes grouped based on the identified themes/subthemes

Subthemes*	Stakeholder category**: Example quotes
1.1.2	Patients/Parents: “More personal interaction would be helpful. I think there is some additional benefit to be gained by interaction between the presenter and audience.”
1.1.2 and 3.1.1	Scientists/Bioinformaticists: “Patients and families can help this study by sharing a list of questions they have about the condition, their concerns and worries, related to possible prevention or treatment protocols and so on.”
1.1.2 and 3.1.1	Scientists/Bioinformaticists: “I would consider providing patients/families with the resources that they can learn about the disease condition and related risk factors or in general raising awareness related to genetic diseases and risk factors is as a prerequisite (for participation in such projects).”
1.1.3 and 3.1.2	PCORI awardees: “Visual representation is often helpful in explaining complex context. Otherwise, poor level of understanding may be intimidating for lay people.”
1.1.2 and 1.1.3 and 3.1.2	Patients/Parents: “Investigators do not have time to make a conversion of terminology to bring us (patient members) along with them. It will remain a big obstacle until they come up with some systematic approach.”
1.2.1 and 1.2.2	Scientists/Bioinformaticists: “It would also be great to talk about fear that people have about having EMR, the same as about genetic testing, regarding who exactly will be able to see the data. How much protection the patients have, considering sometimes tricky language in consent forms?”
1.2.1 and 1.2.2	Physicians/Scientists: “There is often lack of communication and explanations between medical field and patients, which produces misinterpretations and lack of trust.”
1.2.1 and 1.3.4	Patients/Parents: “I found the genetic research tied to autism of great interest to me both as a parent as well as a provider.  We have often discussed the implication of autism like symptoms that exist in our girls with Turner Syndrome (TS). Sleep disturbances are common in our TS population.  The discussions (about sleep problems in autism) make me wonder if we are seeing the same subset of problems (in TS).”
1.3.2	Scientists/Bioinformaticists: “Number of genetic counselors is insufficient. We cannot expect genetic counseling to be done by basic physicians, they are not geneticists.”
1.3.2	Patients/Parents: “Whose responsibility will it be to review the genetic information gathered about a patient as he/she grows older? Will the patient have to remember that they had genetic information obtained?”
1.3.3 and 1.4.1	Patients/Parents: “There are challenges, like data being collected based on different platform that makes integration difficult. It brings along additional expenses for hospitals to be able to share patients’ data between health care providers.”
1.4.1	Physicians: “In clinical practice I frequently have parents who want to do genetic testing but have trouble obtaining prior authorization from insurance companies to cover testing which is often quite expensive.”
2.1.1	Physicians: “So far the information has been really helpful! I’m learning so much about PCORI and PCORnet. Very exciting!”
2.2.1	Physicians/Scientists: “I have enjoyed the patient experience formats. It is great to hear a perspective from a fellow scientist who has had a family member affected by genotypic variations.”
2.2.1	Physicians/Scientists: “Especially loved being able to interact with patients and their families and to hear their opinions.”
2.2.2 and 2.3.1	PCORI awardees: “The definition and description of PCORnet was extremely helpful in providing a framework for how we researchers could access genetic data and incorporate it in research to improve health outcomes.”
2.3.2	Scientists/Bioinformaticists: “With regard to having collaborators on this study from different time zones and schedules, I think PowerPoint presentations are very useful and convenient.”
2.1.1 and 3.4.2	Physicians: “eMERGE seems like it is a great opportunity. I was not aware of this project previously.”
2.1.1 and 3.4.2	Industry representatives: “I was not aware of the information about drug resistance (and genetic risk factors).”
3.1.1	Scientists/Bioinformaticists: “Providing educational materials about environmental risk factors.”
3.1.2	Patients/Parents: “A glossary would be nice to have, or connect to other sources that may have already been developed.”
3.1.2	Scientists/Bioinformaticists: “Would be good to have a summary slide with the most important features of these initiatives (eMERGE, PCORnet) and how these compare to one and other. The same comment applies to information shared about technologies and health record systems.”
3.2.1	PCORI awardees: “With respect to future disease specific project, may be useful to take an opportunity to get input beyond this group, from providers in the hospital and the community, patients and researchers.”
3.2.2	PCORI awardees: “What if we give more visibility to the project website? Can we open it up and make it accessible for the public and make it more interactive to be able to reach out to people doing similar type of work? People could find each other, initiate potential collaborations, collect additional feedback.”
3.2.3	PCORI awardees: “There are many different hospitals engaged in that network (PCORI funded Greater Plains Collaborative project). Do they include any genetic data? For future, when they have the infrastructure established, it would make sense if they added a genetic component.”
3.4.2	Scientists/Bioinformaticists: “Having the actual findings from eMERGE phase I and II would be helpful – and/or a list of publications that were a result of the effort.  Same comment maybe for PCORnet.”

CAB community advisory board, PCORI Patient-Centered Outcomes Research Institute, EMR electronic medical records

*Themes/subthemes are listed in Table 5

**Some CAB members represented more than one stakeholder category