Robert C. Green, MD, MPH, of the BWH Division of Genetics, in collaboration with colleagues from the Laboratory of Molecular Medicine, operated by Partners HealthCare Personalized Medicine and led by Heidi Rehm, PhD, have developed a reporting approach to effectively return the results of whole-genome screening to physicians in a concise report featuring a single-page summary. They describe their approach in BMC Medical Genetics.
Green is the principal investigator of the MedSeq Project, a clinical trial that studies the use of whole-genome sequencing in the practice of medicine. As part of that project, researchers have had to develop an effective way to return results of potential clinical relevance to physicians and patients. To address this need, Green, Rehm and their colleagues developed a five to six page Genome Report, formatted to provide a succinct summary of genomic findings, information on reported variants and brief descriptions of associated diseases and clinical implications.
“Our experience highlights important considerations for the reporting of results of potential medical relevance and provides a framework for interpretation and reporting practices in clinical genome sequencing,” the authors write.