Table 4.
Summary of primary research on CDS systems for cancer-related GPM: CDS for other cancers
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 |
Evans, 199532 | Description of a FHx CDS system developed for a hereditary cancer consulting service. The system collected FHx information, evaluated the FHx for familial risk patterns, and produced preliminary risk assessment and management recommendations. The system resulted in a significant reduction in time spent on cases | Hereditary cancer consulting service in USA | FHx | No | Assessment of patient risk and provision of management recommendations for hereditary cancer | System description; impact observation | Expert rule-based system that modeled the pattern recognition capabilities of clinical geneticists |
Bianchi, 200733; CRCAPRO | Evaluation of CRCAPRO, which used FHx of colorectal and endometrial cancers to identify patients with Lynch syndrome. This study showed that CRCAPRO has low sensitivity and specificity | Clinicians in UK | FHx | No | Assessment of patient risk for colorectal cancer | System validation | Probability calculated using Bayesian updating |
Overbeek, 201034 | RCT of electronic reminders to pathologists to consider Lynch syndrome genetic testing among newly diagnosed colon cancer patients based on FHx. The CDS reminder intervention in 12 pathology laboratories significantly improved pathologists' recognition of patients at risk for Lynch syndrome (OR 2.8; 95% CI 1.1 to 7.0) and increased use of genetic testing (OR 4.1; 95% CI 1.3 to 13.2) | Pathologists in Europe | FHx | Yes | Provision of management recommendations for colorectal cancer | RCT | Electronic reminders provided through health information system |
Picone, 201135; NeoMark | System description of NeoMark, a web-based tool that combined medical images, genetic markers, and other patient data before and after treatment of oral cavity squamous cell carcinoma to predict reoccurrence | Clinicians in Europe | Genotype | No | Assessment of patient risk for oral cancer | System description | Uses a service-oriented, modular architecture |
Hendershot, 201036 | RCT of a web-based genetic feedback intervention involving 200 college students of Asian descent. The system provided personalized alcohol-related health risk information and feedback based on the patient's genotype. The tool resulted in significant reductions in drinking (p=0.02) among participants with the genotype associated with higher risk of alcohol-related cancer | Patients in USA | Genotype | No | Assessment of patient risk; reduction of risky behavior (alcohol consumption) for alcohol-related cancer | RCT | Web-based intervention |
Wakefield, 201137 | System description and pilot usability test of an online CDS tool that presented 22 men with age and family history-specific prostate cancer risk information and management recommendations. Most participants preferred this method for receiving prostate cancer information | Patients in Australia/New Zealand | FHx | No | Assessment of patient risk and provision of management recommendations for prostate cancer | System description; pilot usability test | Online decision aid using a Markov model |
CDS, clinical decision support; FHx, family health history; GPM, genetically guided personalized medicine; RCT, randomized controlled trial.