The Institute for Precision Medicine recognizes the challenge faced by physicians in keeping up with seemingly daily announcements of genetic discoveries and other technology-driven therapies. We want to help you understand why, when, and how you can take advantage of the latest findings – and how you might be able to contribute to future discoveries without disrupting your clinical work flow. Your ability to make clinical decisions, including those in personalized medicine, in the face of growing volumes of complex, heterogeneous data will increasingly rely on new analytical methods from the fields of precision medicine, data science, and healthcare analytics. The Institute of Precision Medicine aims to serve as a support network for you, providing the resources and training needed by physicians as well as to help define the roles of physicians, pharmacists, genetic counselors, and other healthcare providers in this burgeoning era of personalized medicine.
Genetics and Genomics in Health Care -Resources
- A wide range of information can be found at the Genetics and Genomics for Health Professionals website at the National Human Genome Research Institute (NHGRI)
- Further vital resources can be accessed on the Genetics/Genomics Competency Center (G2C2) website, a free, online collection of more than 500 materials for use in the classroom and for self-directed learning of genetics and genomics concepts for use in the clinic. This resource is particularly helpful for guidance in talking with patients about the results of genetic or other omic testing.
- Other National Institutes of Health (NIH) resources include:
- GeneReviews®, an expert-authored and peer-reviewed point-of-care resource providing clinically relevant and actionable genetic information
- The Online Mendelian Inheritance of Man® (OMIM®), an authoritative compendium of human genes and genetic phenotypes that is updated daily
- MedGen, a searchable engine which organizes medical genomic information
- HuGE Navigator, a searchable database of disease genetic associations
- My Cancer Genome, which allows users to search by type of cancer, gene, or variant to match tumor mutations with therapies
- The Genetic Testing Registry (GTR), which serves as a central searchable repository for genetic test information (by test, condition, gene, or lab)
- Gene Tests™ also lists genetic and omic tests that can be ordered anywhere in the world. The National Coalition for Health Professional Education in Genetics offers guidance in interpreting the results of a genetic or genomic test
- Finally, for those who want to contribute directly to the development of precision medicine in health care settings, physicians from any discipline can now become Board-certified in clinical informatics.
We invite health care professionals at the University of Pittsburgh Medical Center (UPMC) to contact us if they would like a referral to faculty at the University of Pittsburgh who can help answer their questions about genomic testing. In addition, Health care professionals at UPMC can request a genomic-related ethics consult through the Center for Bioethics and Health Law.
Pharmacogenomics will become increasingly important for pharmacists, physicians, and other health care professionals to understand and embrace. Pharmacogenomic testing can predict a patient’s response to and the safety of specific drugs. Being able to predict the likelihood of efficacy or toxicity will help improve therapy decisions, prevent adverse events, and improve patient outcome. Pharmacists will play a key role in the interpretation of clinical pharmacogenomic tests since they have the knowledge (medicinal chemistry, pharmacokinetics, pharmacology, therapeutics) needed for drug selection and/or dose adjustment based on the results of genetic tests. Indeed, pharmacogenomic testing may be based in the pharmacy rather than in a medical clinic.
A range of resources specifically focused on pharmacogenomics can be found here:
- For background information he University of Utah has tutorials on understanding single nucleotide polymorphisms (SNPs) and pharmacogenomics more generally (suitable for patients as well)
- Once you have the patient’s genetic information, the Pharmacogenomics Knowledgebase (PharmGKB) collects and curates information related to the impact of genetic variation on drug response, including variant annotations, clinical annotations, drug-centered pathways, pharmacogene summaries, pharmacogenomics-based drug-dosing guidelines, and drug labels with pharmacogenomics information.
- The US Food and Drug Administration also maintains a Table of Pharmacogenomic Biomarkers in Drug Labeling that lists FDA-approved drugs with pharmacogenomic information in their labeling
As with most new technologies in health care, reimbursement for genetic and other omic testing varies by insurer and must be checked and discussed with patients.