title: Health Care Infrastructure for Financially Sustainable Clinical Genomics.
abstract: Next-generation sequencing has evolved technically and economically into the method of choice for interrogating the genome in cancer and inherited disorders. The introduction of procedural code sets for whole-exome and genome sequencing is a milestone toward financially sustainable clinical implementation; however, achieving reimbursement is currently a major challenge. As part of a prospective quality-improvement initiative to implement the new code sets, we adopted Agile, a development methodology originally devised in software development. We implemented eight functionally distinct modules (request review, cost estimation, preauthorization, accessioning, prebilling, testing, reporting, and reimbursement consultation) and obtained feedback via an anonymous survey. We managed 50 clinical requests (January to June 2015). The fraction of pursued-to-requested cases (n = 15/50; utilization management fraction, 0.3) aimed for a high rate of preauthorizations. In 13 of 15 patients the insurance plan required preauthorization, which we obtained in 70% and ultimately achieved reimbursement in 50%. Interoperability enabled assessment of 12 different combinations of modules that underline the importance of an adaptive workflow and policy tailoring to achieve higher yields of reimbursement. The survey confirmed a positive attitude toward self-organizing teams. We acknowledge the individuals and their interactions and termed the infrastructure: human pipeline. Nontechnical barriers currently are limiting the scope and availability of clinical genomic sequencing. The presented human pipeline is one approach toward long-term financial sustainability of clinical genomics.
authors.affiliation: Department of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts. Electronic address: jlennerz@partners.org.
authors.forename: Jochen K
authors.initials: JK
authors.lastname: Lennerz
authors.affiliation: Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts.
authors.forename: Heather M
authors.initials: HM
authors.lastname: McLaughlin
authors.affiliation: Department of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts.
authors.forename: Jason M
authors.initials: JM
authors.lastname: Baron
authors.affiliation: Department of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts.
authors.forename: David
authors.initials: D
authors.lastname: Rasmussen
authors.affiliation: Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts.
authors.forename: Meini
authors.initials: M
authors.lastname: Sumbada Shin
authors.affiliation: International Coach Federation, Lexington, Massachusetts.
authors.forename: Nancy
authors.initials: N
authors.lastname: Berners-Lee
authors.affiliation: Department of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts.
authors.forename: Julie
authors.initials: J
authors.lastname: Miller Batten
authors.affiliation: Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts.
authors.forename: Kathryn J
authors.initials: KJ
authors.lastname: Swoboda
authors.affiliation: Clinical and Translational Epidemiology Unit, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts.
authors.forename: Manish K
authors.initials: MK
authors.lastname: Gala
authors.affiliation: Pediatric Gastroenterology and Nutrition Program, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts.
authors.forename: Harland S
authors.initials: HS
authors.lastname: Winter
authors.affiliation: Division of Gastroenterology, the Ataxia Unit, Cognitive Behavioral Neurology Unit, Laboratory for Neuroanatomy and Cerebellar Neurobiology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts.
authors.forename: Jeremy D
authors.initials: JD
authors.lastname: Schmahmann
authors.affiliation: Division of Medical Genetics, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts.
authors.forename: David A
authors.initials: DA
authors.lastname: Sweetser
authors.affiliation: Department of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts.
authors.forename: Marianne
authors.initials: M
authors.lastname: Boswell
authors.affiliation: Department of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts.
authors.forename: Maciej
authors.initials: M
authors.lastname: Pacula
authors.affiliation: Institute of Pathology, University Hospital Heidelberg, Heidelberg, Germany.
authors.forename: Albrecht
authors.initials: A
authors.lastname: Stenzinger
authors.affiliation: Department of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts.
authors.forename: Long P
authors.initials: LP
authors.lastname: Le
authors.affiliation: Department of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts.
authors.forename: William
authors.initials: W
authors.lastname: Hynes
authors.affiliation: Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts.
authors.forename: Heidi L
authors.initials: HL
authors.lastname: Rehm
authors.affiliation: Neuroendocrine Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts.
authors.forename: Anne
authors.initials: A
authors.lastname: Klibanski
authors.affiliation: Department of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts.
authors.forename: Stephen W
authors.initials: SW
authors.lastname: Black-Schaffer
authors.affiliation: Department of Pathology, The Brigham and Women's Hospital, Boston, Massachusetts.
authors.forename: Jeffrey A
authors.initials: JA
authors.lastname: Golden
authors.affiliation: Department of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts.
authors.forename: David N
authors.initials: DN
authors.lastname: Louis
authors.affiliation: Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts.
authors.forename: Scott T
authors.initials: ST
authors.lastname: Weiss
authors.affiliation: Department of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts.
authors.forename: A John
authors.initials: AJ
authors.lastname: Iafrate
mesh_terms: D003695:Delivery of Health Care / Q000191:economics / Q000379:methods / Q000458:organization & administration; D059472:Exome; D023281:Genomics / Q000191:economics / Q000379:methods; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D008490:Medical Informatics / Q000191:economics / Q000379:methods*; D012017:Referral and Consultation; D012051:Reimbursement Mechanisms; D012106:Research; D012984:Software; D011795:Surveys and Questionnaires; D057188:Workflow; D000078329:Workforce