The Spectrum of Clinical Utilities in Molecular Pathology Testing Procedures for Inherited Conditions and Cancer: A Report of the Association for Molecular Pathology

The Journal of Molecular Diagnostics – Debates surrounding levels and types of evidence needed to properly evaluate the clinical value of molecular diagnostics are increasingly important because the growing body of knowledge, stemming from the increase of genomic medicine, provides many new opportunities for molecular testing to improve health care. We address the challenges in defining the clinical utility of molecular diagnostics for inherited diseases or cancer and provide assessment recommendations.

Clinical utility of a Web-enabled risk-assessment and clinical decision support program

Genetics in Medicine – Risk assessment based on the combination of personal and family health history is an effective and essential component of preventive health and is recommended by numerous medical organizations and guideline-making bodies. Examples of risk-management strategies predicated on risk assessment include breast magnetic resonance imaging (MRI), early (age <50 years) colon cancer screening, and BRCAgenetic testing.

Toward rapid learning in cancer treatment selection: an analytical engine for practice-based clinical data

Journal of Biomedical Informatics – The promise of leveraging vast medical record data to guide clinical decision making has created growing support for the development of “Rapid Learning Systems” (RLS) that gather and leverage practice-based clinical evidence for real-time clinical decision support. The need for such systems is particularly evident within the field of oncology, where controlled clinical trial evidence is only available to guide therapy in a minority of patients.

Implementing and Improving Automated Electronic Tumor Molecular Profiling

Journal of Oncology Practice – Oncology practice increasingly requires the use of molecular profiling of tumors to inform the use of targeted therapeutics. However, many oncologists use third-party laboratories to perform tumor genomic testing, and these laboratories may not have electronic interfaces with the provider’s electronic medical record (EMR) system.

CYP2C19 and CES1 polymorphisms and efficacy of clopidogrel and aspirin dual antiplatelet therapy in patients with symptomatic intracranial atherosclerotic disease

Journal of Neurosurgery – Symptomatic intracranial atherosclerotic disease (ICAD) has a high risk of recurrent stroke. Genetic polymorphisms in CYP2C19 and CES1 are associated with adverse outcomes in cardiovascular patients, but have not been studied in ICAD. The authors studied CYP2C19 and CES1 single-nucleotide polymorphisms (SNPs) in symptomatic ICAD patients.

Loss of Heterozygosity at the CYP2D6 Locus in Breast Cancer: Implications for Tamoxifen Pharmacogenetic Studies

Journal of the National Cancer Institute – Loss of functional genetic polymorphisms in CYP2D6 lead to the absence of functional CYP2D6 protein in approximately 5% to 10% of whites (people of European ancestry) and 1% to 2% of those of Asian and African ancestry. In the literature, these are commonly referred to as CYP2D6–poor metabolizers (PMs). The first study to report an association between CYP2D6polymorphisms and endoxifen plasma concentration was published in 2003 and showed that CYP2D6 PMs exhibited lower endoxifen plasma concentrations than those with functional CYP2D6 enzyme. The results from this study served as an impetus to investigate the influence of CYP2D6 gene variation on clinical outcomes with tamoxifen.

Identifying Patients at Increased Disease Risk: Comparing Clinical Judgment and a Clinical Risk Assessment Tool

Journal of Family Medicine & Community Health –

There are several barriers to the appropriate use of Family Health History (FHH)for risk management within primary care. Among these is a lack of physician confidence in their ability to identify high risk individuals and determine guideline concordant care. In this study, we compared Primary Care Providers’ (PCP) clinical assessment of appropriate risk-management for patients to guideline based recommendations generated by an IT platform, MeTree. In addition, we compared MeTree with clinical assessments of Genetic Counselors (GC).


Implementing family health history risk stratification in primary care: Impact of guideline criteria on populations and resource demand

American Journal of Medical Genetics – The Genomic Medicine Model aims to facilitate patient engagement, patient/provider education of genomics/personalized medicine, and uptake of risk‐stratified evidence‐based prevention guidelines using MeTree, a patient‐facing family health history (FHH) collection and clinical decision support (CDS) program. Here we report the number of increased risk (above population‐level risk) patients identified for breast/ovarian cancer, colon cancer, hereditary syndrome risk, and thrombosis; the prevalence of FHH elements triggering increased‐risk status; and the resources needed to manage their risk.