GMKBClinical and Translational Science – With advancements in pharmacogenomics research and genotyping technology, implementation of pharmacogenomics into clinical practice is now feasible. The aim of this publication is to serve as a tutorial for institutions interested in developing pharmacogenomics services.
Impact of Genetic Testing and Family Health History Based Risk Counseling on Behavior Change and Cognitive Precursors for Type 2 Diabetes
Journal of Genetic Counseling – Family health history (FHH) in the context of risk assessment has been shown to positively impact risk perception and behavior change. The added value of genetic risk testing is less certain. The aim of this study was to determine the impact of Type 2 Diabetes (T2D) FHH and genetic risk counseling on behavior and its cognitive precursors.
Multiplex SNaPshot—a new simple and efficient CYP2D6 and ADRB1 genotyping method
Human Genomics – Reliable, inexpensive, high-throughput genotyping methods are required for clinical trials. Traditional assays require numerous enzyme digestions or are too expensive for large sample volumes. Our objective was to develop an inexpensive, efficient, and reliable assay for CYP2D6 and ADRB1 accounting for numerous polymorphisms including gene duplications.
The Path(way) Less Traveled: A Pathway-Oriented Approach to Providing Information about Precision Cancer Medicine on My Cancer Genome
Translational Oncology – This perspective describes the motivation, development, and implementation of pathway-based content for My Cancer Genome, an online precision medicine knowledge resource describing clinical implications of genetic alterations in cancer.
The DNA of Pharmacy Education: CAPE Outcomes and Pharmacogenomics
The DNA of Pharmacy Education: CAPE Outcomes and Pharmacogenomics – Pharmacogenomics (PGx) is a rapidly evolving area of precision (i.e., personalized) medicine in which a patient’s genomic information is used to identify the safest and most effective treatment. While basic pharmacogenomic concepts have developed over the past 50 years, the pace of genomic research accelerated with the completion of the Human Genome Project in 2003.1 Using the genomic “roadmap” developed by this initiative, researchers and clinicians were able to speed up the process of identifying millions of genetic variants/polymorphisms along the DNA template. Pharmacogenetic studies use these genetic variants/polymorphisms to identify their potential effects on individual patient drug response, disposition, and/or toxicity.
Implementation of a Pharmacogenomics Consult Service to Support the INGENIOUS Trial
Clinical Pharmacology & Therapeutics – Hospital systems increasingly utilize pharmacogenomic testing to inform clinical prescribing. Successful implementation efforts have been modeled at many academic centers. In contrast, this report provides insights into the formation of a pharmacogenomics consultation service at a safety-net hospital, which predominantly serves low-income, uninsured, and vulnerable populations. The report describes the INdiana GENomics Implementation: an Opportunity for the UnderServed (INGENIOUS) trial and addresses concerns of adjudication, credentialing, and funding.
Genomics in Chronic Kidney Disease: Is this the Path Forward?
Advances in Chronic Kidney Disease – Recent advances in genomics and sequencing technology have led to a better understanding of genetic risk in chronic kidney disease. Genetics could account in part for racial differences in treatment response for medications including antihypertensives and immunosuppressive medications due to its correlation with ancestry.
CUSTOM-SEQ: a prototype for oncology rapid learning in a comprehensive EHR environment
Journal of the American Medical Informatics Association – As targeted cancer therapies and molecular profiling become widespread, the era of “precision oncology” is at hand.
An openly available online tool for implementing the ACMG/AMP standards and guidelines for the interpretation of sequence variants
Genetics in Medicine – We have been using the standards and guidelines to classify variants identified using a next-generation sequencing gene panel for individuals with suspected forms of monogenic diabetes, such as maturity-onset diabetes of the young, as part of the Personalized Diabetes Medicine Program, a member project in the National Human Genome Research Institute–funded IGNITE (Implementing Genomics in Practice) Network. This program uses patient characteristics and family history to identify individuals likely to have a monogenic etiology for their diabetes mellitus, which is challenging owing to the similarity of clinical presentation between monogenic diabetes and more common forms of diabetes.
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.