Implementation of genetics to personalize medicine

We stand on the verge of integrating individual genetic and genomic information into health care provision and maintenance to improve health, increase efficiency, and decrease costs. We are beginning to integrate information on inherited susceptibility, gene expression, and predicted pharmacogenomic response to refine our medical management.

This article reviews the current utility of genetics and genomics in a wide array of clinical circumstances, considers the future applications, and defines some of the obstacles and potential solutions to clinical integration of genomic medicine.

Using the search terms genetics, genomics, pharmacogenomics, newborn screening, long QT syndrome, BRCA1/BRCA2, maturity onset diabetes of youth, diabetes, hemochromatosis, coronary artery disease, copy number changes, genetic discrimination, and genetic education, the PubMed database was searched from January 2000 to March 2007 to identify pertinent articles. Search results were restricted to English-language and human studies.

Several areas of medicine have begun to incorporate genetics into clinical practice, including newborn screening and breast cancer risk stratification and treatment. Molecular genetic tests are, and will increasingly become, available for inherited arrhythmias, diabetes, cancer, coronary artery disease, and pharmacogenomics. However, there are many barriers to implementation, including the cost of testing, the genetic literacy of patients and health care providers, and concerns about genetic discrimination.

Genetics and genomics will be increasingly utilized in every field of medicine; however, health care providers and patients must have realistic expectations about its predictive power and current limitations.