Genomic medicine: considerations for health professionals and the public

After decades of identifying genes involved in single gene diseases, large-scale genotyping technologies with one million single nucleotide polymorphisms per sample now enable the association and identification of genes involved in complex diseases. Genome-wide association studies identify hundreds of commonly occurring gene variants that are thought to result in an increased risk for some common complex conditions such as type I/II diabetes, Crohn's disease, coronary artery disease and several forms of cancers. Furthermore, developments such as expression arrays allow the identification of genes that are active in normal and diseased cells. These advances in human genomics are ushering us into a new era of predictive, preventive and personalized approaches to medicine. Hopefully, this will allow individuals to use their genetic information to avoid or minimize the risk of serious disease, to adopt preventive strategies to cope with common chronic conditions, and to have their medical care targeted to their genetic profile and tailored to their needs [1]. It is thus expected that health professionals of various specialties will face increasing demands to integrate genomic medicine into their practices, and challenges that include recognizing patients who should be referred for genetic testing, ordering and interpreting tests, communicating risk information, promoting prevention strategies, providing advice to patients about the meaning of genetic variations, prescribing drugs and responding to patients seeking information after receiving direct-to-consumer (DTC) test results [2].This raises questions about whether physicians and other health professionals are prepared to respond to these challenges and whether they have adequate knowledge about modern genetics and genomics [3]. Most physicians have no formal training in genetics, and currently little research has focused on their understanding of the recent developments in genomics [4,5]. It is unclear how physician