Table 2.

Summary of primary research on CDS systems for cancer-related GPM: other FHx CDS tools for breast cancer management

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
Tsouskas, 199722	Evaluation of a CDS tool that used patient-specific breast cancer risk information, including FHx, to identify patients at high risk of breast cancer. The system identified nine out of 10 women with breast cancers in this study	Clinicians in Europe	FHx	No	Assessment of patient risk for breast cancer	Validation study	Expert system developed using a variant of the BASIC programming language
Berry, 200223; BRCAPRO	Evaluation of BRCAPRO, which predicted the probability of carrying a BRCA mutation based on a patient's FHx. BRCAPRO was effective in predicting the probability of carrying the BRCA mutation	Clinicians in USA	FHx	No	Assessment of patient risk for breast cancer	Validation study	Probability calculated using Bayesian updating
Wilson, 200624	RCT of a stand-alone breast cancer CDS tool to guide referrals in everyday GP practices. The study consisted of 86 GP practices. The CDS system did not result in a statistically significant improvement, due largely to the limited awareness and adoption of the tool by GPs	GPs in UK	FHx	No	Assessment of patient risk and provision of management recommendations for breast cancer	RCT	The deployment of the CDS system was purposely pragmatic and did not involve extensive workflow integration measures
Matloff, 200726	System description of a tool to provide patient-specific predictions of women's future risks for breast cancer, heart disease, osteoporosis, and endometrial cancer utilizing personal and FHx	Genetic counselors in USA	FHx	No	Assessment of patient risk for breast cancer	System description	System used a Markov model
Matloff, 200625	RCT of a CDS tool used by genetic counselors26 to enable personalized risk assessment and genetic counseling. The trial involved 48 cancer-free, post-menopausal women with a first-degree relative of breast cancer who were contemplating the use of alternative menopausal therapy options. This trial found that patients in the intervention group had increased knowledge and a lower, more accurate perceived risk of developing breast cancer compared to the control group	Genetic counselors in USA	FHx	No	Assessment of patient risk for breast cancer	RCT	System used a Markov model
Ozanne, 200927; Hughes Risk Apps	System description of HughesRiskApps and evaluation of its impact at a community hospital. The CDS system significantly increased the number of patients seen for risk consultation and genetic test ordering. The implementation improved efficiency in several ways and did not require significant investment in capital or personnel	Clinicians in USA	FHx	No	Assessment of patient risk and provision of management recommendations for breast cancer	System description; pre–post comparison	Used tablet computers to collect information from patients. Used Health Level 7 compliant information models.

CDS, clinical decision support; FHx, family health history; GP, general practitioner; GPM, genetically guided personalized medicine; RCT, randomized controlled trial.