The seventh layer of the clinical-genomics information infrastructure

Clinical genomics is an interdisciplinary field dealing with the use of genetic data in clinical practice, such as the prescription of drugs based on a patient's genetic profile. To support the integration of clinical genomics information with clinical practice and research, information technologies should enable the semantic association of patient-specific genetic data (e.g., gene variants) with the patient's phenotypic information. To create such genotype-phenotype associations effectively, information technologies should consider relevant data from patient medical records along with information from biomedical knowledge sources. In this paper, we describe how these challenges are addressed by Clinical Genomics Level Seven (CGL7), a set of Web services for clinical-genomics decision-support applications that follow the HL7® (Health Level 7®) Clinical Genomics standard for the representation and exchange of clinical genomics data.