It is becoming increasingly clear, at this and other conferences, such as the Cold Spring Harbor Personal Genomes meetings, that genomics can have a profound role in guiding diagnoses and treatments. A major theme of this year's conference was the patient perspective and their reaction to having their genome sequenced in a clinical setting. The conference started with a direct perspective from the parents of Lilly Grossman, a patient with a lifelong undiagnosed disease, marked by tremors and sleepless nights. After having her full genome sequenced by the Idiopathic Diseases of Man (IDIOM) study, led by Topol, mutations in ADCY5 and DOCK3 were able to putatively explain her phenotype, and suggest a possible treatment, which provided a few weeks of regular sleep. While the result was not a conclusive answer, it provided hope for the patient and her family. Howard Jacob (Medical College of Wisconsin, USA) agreed, stressing that even in the absence of clinical utility (if a diagnosis is not actionable), the personal utility of having a diagnosis is important to the patient and the patient's family. Jacob suggested a consumer-driven economy for personal genomics, and that even though variants and annotations are subject to change as technologies and interpretations improve, involving patients in the process can be an effective way to deal with these changes. Misha Angrist (Duke University, USA) mirrored these sentiments, drawing parallels to open-access publishing: subjects should have the right to their own data and to see results of the studies that use their data. Randy Scott (Invitae, USA) outlined his and Invitae's mission of bringing genetics to the masses by building databases and infrastructure for managing genetic information. The books that were handed out to participants reflected this mission, between AJ Jacob's Drop Dead Healthy, a foray into taking control of one's health, as well as the book by myself (Konrad Karczewski, Stanford University, USA) and Joel Dudley (Mount Sinai School of Medicine, USA): Exploring Personal Genomics, a handbook to understanding and interpreting personal genetic data.

While much of these opinions on patient perspectives were anecdotal, Cinnamon Bloss (Scripps Translational Science Institute, USA) presented hard data on the perceptions of both patients and physicians, and the differences therein, through surveys of families. Parents of patients and their doctor agreed that the doctor was knowledgeable about genetics, but the parents were much less satisfied with the doctor's explanations of the results. However, Bloss noted that the majority of patients, parents and physicians were interested in receiving secondary findings, regardless of age of onset or actionability and desire for these results increased with actionability for all three groups.