We embedded a survey within a genomic medicine implementation study conducted as part of the eMERGE consortium. The parent study provided genomic sequencing of 109 medically actionable genes to 3,037 individuals in an effort to identify previously undetected inherited disease risks and assess the medical and psychosocial implications of genomic risk screening[7 ]. Although genomic sequencing was conducted under a research protocol, an associated clinical report was placed in participants’ electronic medical record. Clinically actionable results were communicated in-person to participants by a genetic counselor but variants of uncertain significance were not returned. Participants were informed about these and other potential clinical implications of study results at the time of consent.
The study sample consisted of individuals with one of two phenotypes—documented colon polyps and hyperlipidemia. To create the sample, the Mayo Clinic biobank, a genetic biobank with approximately 55,000 samples,[8 (link)] along with a smaller Vascular Disease Biorepository,[9 (link)] were screened to identify 5,106 eligible participants exhibiting one or both of the phenotypes of interest. Eligible participants were mailed a study packet containing a letter of invitation,a study brochure, a “Frequently Asked Questions” document, and an informed consent document. These items described the risks and benefits of participating in the study, including information about the potential results that participants might receive, and discussed potential consequences for family members. The aim of these documents was to present common elements of an in-person genetic counseling session. Those electing to participate in the study returned a signed consent form in a postage-paid envelop. Optional pre-test genetic counseling was available at no cost and was described several times in the study invitation materials, along with a phone number to call to schedule an appointment with a genetic counselor.
The study sample consisted of individuals with one of two phenotypes—documented colon polyps and hyperlipidemia. To create the sample, the Mayo Clinic biobank, a genetic biobank with approximately 55,000 samples,[8 (link)] along with a smaller Vascular Disease Biorepository,[9 (link)] were screened to identify 5,106 eligible participants exhibiting one or both of the phenotypes of interest. Eligible participants were mailed a study packet containing a letter of invitation,a study brochure, a “Frequently Asked Questions” document, and an informed consent document. These items described the risks and benefits of participating in the study, including information about the potential results that participants might receive, and discussed potential consequences for family members. The aim of these documents was to present common elements of an in-person genetic counseling session. Those electing to participate in the study returned a signed consent form in a postage-paid envelop. Optional pre-test genetic counseling was available at no cost and was described several times in the study invitation materials, along with a phone number to call to schedule an appointment with a genetic counselor.
