Exomes for we but not for thee

1 (http://www.hhs.gov/ocr/privacy/hipaa/understanding/special/CLIA/index.html; http://www.ncbi.nlm.nih.gov/pubmed/25255365). Author's note: I have written this anonymously because I do not want harm to come to those who helped me get my results. It is my hope that my travails will call attention to the fact that patient access to what one has a right to know about oneself is not necessarily straightforward or easy. I am happy to respond to correspondence, which can be sent to me via the editor for this special issue: misha. [email protected]. Given the culture shift toward greater data sharing, I assumed that I could have access to my genomic data and share it with whomever I chose rather easily. I was wrong. Not too long ago I hadmywhole exome sequenced (WES) at amajor medical center. It seemed there was finally the opportunity to learn a root cause for my underperforming immune system, which seemed to outsmart every available intervention. Perhaps getting my whole exome sequence could also help immunogenomics researchers and ultimately others similarly compromised. I flew to one of the country's top academicmedical centers to consult with an immunologist and get sequenced. The doctor briefly described WES and I signed the consent form, opting in to receive a focused report containing unexpected variants of clinical significance, and authorizing the laboratory to share my data with researchers. The form was lengthy but not as clear or explicit as the lab's online FAQ, which detailed the reporting of results and medically actionable findings, including ACMG-categorized incidental findings and laboratory-categorized incidental findings (additional incidental findings determined by the laboratory's experts deemed to be “medically actionable”). When consenting, I requested the expanded report, which would tell me about pathogenic variants and unclassified variants in genes unrelated tomy phenotype, aswell as deleteriousmutations in genes with no currently known human disease association. Protocol required that this report be ordered separately by the referring physician and only after the focused report was released, though I wasn't told so. I also asked to receivemy raw data in the form of a VCF or equivalent file. My prescribing physician didn't knowwhat such a file was. I decided not to push the issue until results were in, which I was told would take about 15 weeks. Seven months later my doctor hadn't received any results, so I phoned the clinic. After parrying with the staff, I was eventually transferred to the clinic Fellow on duty, the only one acting as liaison with the lab since the ordering physicianwas away onmaternity leave. After contacting the lab, the Fellow reported back to me. Results could only be sent to the ordering physician (the one on extended maternity leave), and the only one authorized to send results to my