Published Online: July 13, 2015. doi:10.1001/jama.2015.7120.
Study concept and design: Bianchi, Chudova, Sehnert, Murray, Halks-Miller.
Acquisition, analysis, or interpretation of data: All authors.
Drafting of the manuscript: Bianchi, Chudova, Sehnert, Murray, Goldberg, Halks-Miller.
Critical revision of the manuscript for important intellectual content: All authors.
Statistical analysis: Chudova, Sehnert, Bhatt.
Administrative, technical, or material support: Bianchi, Murray, Prosen, Garber, Wilkins-Haug, Vora, Warsof, Goldberg, Ziainia, Halks-Miller.
Study supervision: Bianchi, Chudova, Sehnert, Bhatt, Halks-Miller.
Conflict of Interest Disclosures: All authors have completed and submitted the ICMJE Form for Disclosure of Potential Conflicts of Interest. Dr Bianchi reported being a member of the Reproductive and Genetic Health Expert Advisory Panel of Illumina, for which she receives an honorarium, and having received sponsored research funding from Illumina that is administered through Tufts Medical Center. Drs Chudova, Sehnert, Bhatt, and Halks-Miller reported being full-time employees of Illumina. Ms Murray reported having served on the speakers’ bureau for Myriad Genetics. Dr Prosen reported being a member of the Illumina speakers’ bureau. Dr Garber reported having received sponsored research funding from Myriad Genetics and Novartis and serving as a consultant for Pfizer and Sequenom. Dr Wilkins-Haug reported having received sponsored research support from Ariosa and Sequenom. No other disclosures were reported.
Funding/Support: Funding for the study was provided by Illumina. Sponsored research funding from Illumina that is administered through Tufts Medical Center paid for the time that Dr Bianchi spent working with the full-time Illumina employees to design the study, analyze the data, and prepare the manuscript.
Role of the Funder/Sponsor: Illumina reviewed and approved submission of the manuscript for publication (as per their internal policies), but they did not make any changes to the manuscript. Illumina had no role in the design and conduct of the study; collection, management, analysis, and interpretation of the data; or preparation of the manuscript.
Additional Contributions: We thank the case patients whose data are reported herein for giving permission to publish their information. They were gracious and generous with their time and follow-up information with the hope of helping others. We also thank Shannon X. Jeddi, CGC, for her help in obtaining medical record information. She received no financial compensation. We also thank Richard Rava, PhD, for his scientific advice; he was not compensated for his contribution besides salary.