A novel approach for offering additional findings to patients: Separating this decision from diagnostic testing.

Genomic sequencing has the potential to reveal information unrelated to diagnostic indications for testing, including the presence of variants that may predict future health risks. Several studies are generating evidence regarding uptake and management of additional findings (AFs) in clinical settings, with consent for AFs at the time of diagnostic testing and focus on health outcomes. We evaluate a novel model, offering reanalysis for AFs to adults after they have received genomic sequencing results for their clinical indication. Adults who received exome sequencing results are later recontacted to offer reanalysis of their stored data for AFs. Those interested receive decision support materials and genetic counseling before deciding whether to consent. Evaluation focusses on aspects impacting on how AFs are provided, including patient decision-making, uptake, clinical/laboratory service impact, psychosocial impact and views on future service delivery. To date, 57 patients have been approached, with 14 opting to attend for genetic counseling. Of the 6 who have attended, all decided to receive additional findings. 6/57 actively opted-out, citing logistical reasons, preference to address health problems as they arise or being advised by family members to decline. Of those approached to date, 83% had earlier expressed hypothetical interest in receiving AFs. Recruitment will cease by end 2018. Results from this novel model will provide Australian data to complement international studies and enable comparison with studies in healthy adults and pediatric cohorts.