Table 6.

Summary of primary research on GPM CDS systems for other conditions

Citation and name of system (if applicable)	Manuscript summary and trial details (if applicable)	Users and study location	Genetic information used	Integrated with primary clinical information system	CDS purpose and clinical focus	Manuscript type	Notable informatics aspect
FHx-driven CDS systems
Harris, 199044; GenInfer	System description of the GenInfer program, which used FHx information along with other inheritance factors to calculate genetic risks and probabilities of inheritance	Clinicians in USA	FHx	No	Assessment of patient risk for inherited disease	System description	Based on Pearl's algorithm for fusion and propagation in a probabilistic belief network
Kobrinskii, 199745 and Kobrinsky, 199846; National Russian Genetic Register	Description of the information system used by Russia's federal genetics center to manage patients across Russia in need of genetics care. This system supported pedigree creation, cytogenetic analysis, risk assessment, and information support	Genetics specialists in Europe	FHx	No	Assessment of patient risk for inherited disease	System description	Utilized both server–client and local deployment models
Orlando, 201148; MeTree	System description of MeTree, a tool that evaluates FHx and provides management recommendations regarding various heritable conditions for patients and clinicians. Also provides the protocol for a planned evaluation of the tool in North Carolina primary care clinics	Patients and clinicians in USA	FHx	No	Assessment of patient risk and provision of management recommendations for inherited disease	System description; evaluation protocol description	Patient-driven application that provides CDS as a printout
Rubinstein, 201149; CDC Family Healthware	RCT with 3284 participants of the CDC Family Healthware tool, which provides personalized screening recommendations for multiple heritable conditions based on FHx. Both intervention and control groups showed improved adherence to screening recommendations compared to the baseline time period, but there was no significant difference between the intervention and control groups	Patients in USA	FHx	No	Assessment of patient risk and provision of management recommendations for inherited disease	RCT	A patient-directed, web-based tool
Wells, 200751; PREDICT CVD-5	System description of a real-time CDS system that pulled clinical data from the EHR to calculate cardiovascular disease risk and provide risk management recommendations. A retrospective analysis found that including the patients' ethnicity and FHx into the risk assessment process substantially increased the number of patients eligible for drug treatment and lifestyle management	Clinician in Australia and New Zealand	FHx	Yes	Assessment of patient risk for heart disease	System description; retrospective analysis	Integrated with the MedTech practice management system
Genotype-driven CDS systems
Iavindrasana, 200852; @neurIST	System description of @neurIST, a CDS system which collects genetic data, radiological data, and clinical data from clinical information systems to provide CDS regarding intracranial aneurisms	Clinicians in Europe	Genotype	Yes	Provision of management recommendations for intracranial aneurism	System description	Uses a service- oriented, standards-based approach
Kalatzis, 200947	System description of a point-of-care portable medical device that integrates clinical data with genetic data obtained from a miniature diagnostic system to produce a diagnosis for rheumatoid arthritis and multiple sclerosis	Clinicians in Europe	Genotype	No	Diagnostic assistance for arthritis and multiple sclerosis	System description	A combination of artificial neural networks, decision trees, and support vector machines was found to have the best performance
Scheuner, 200953	A survey of health professionals, genetics experts, and EHR developers regarding the ability of EHR systems to document, organize, and use FHx and genetic information	Clinicians in USA	FHx; genotype	Yes	Assessment of patient risk and provision of management recommendations for genetically-guided personalized medicine	Survey	EHRs were generally perceived as lacking the ability to support genomic medicine
Aronson, 201150; GeneInsight	System description of GeneInsight, a platform that provides patient-specific genetic testing reports as well as notifications when the presumed clinical significance of genetic variants change for patients who have been previously tested	Geneticists and other clinicians in USA	Genotype	No	Provision of patient-specific genetic testing reports; notification of changes in clinical significance of genetic variants	System description	Is registered with the Food and Drug Administration as a class I exempt medical device

CDC, Centers for Disease Control and Prevention; CDS, clinical decision support; EHR, electronic health record; FHx, family health history; GPM, genetically guided personalized medicine; RCT, randomized controlled trial.