Genomic Medicine
Until now, genes and genomes have had a minor impact on the practice of medicine. As it has for decades, the specialty of medical genetics continues to focus on a few selected, albeit important, niches: newborn screening for metabolic diseases, prenatal testing and counseling for neural tube defects and chromosomal disorders, and physical examination of patients with suspected genetic disorders. While DNA testing is a growth industry, it remains a supplement to general practice; not only is it largely limited to less common single-gene disorders, it is often prohibitively expensive.
Genomic medicine-the consideration of a patient' s entire genome as it relates to her health-has the potential to radically alter health care in the US. By understanding patients' genomes in their totality, it should be possible to develop individualized treatments that are more effective than existing, one-size-fits-all approaches. While the current practice of medical genetics will always have a role in the diagnostics and treatment of simple genetic diseases, genomic medicine can have a profound, global impact on public health by addressing the causes, diagnoses and treatments of some of the most common human conditions. Those conditions-including heart disease, cancer, diabetes, infectious diseases, and dementia, among others-are all partially mediated by genes. Thus, for example, a patient may harbor a collection of variants in his genes that make him especially vulnerable to heart disease. Those same variants may allow him to avoid heart attacks through lifestyle changes or by taking medications tailored to his genetic makeup.
Genomic medicine must overcome a number of challenges in order to integrate itself into standard medical practice. Genome technologies are expensive; finding creative, equitable ways to bring them to those who need them will require innovative approaches on the part of researchers, businesspeople, clinicians and policymakers. Educating general practitioners and patients as to the utility and meaning of genomic information represents another monumental task. Beyond education, there is the broader issue of buy-in: it will be incumbent upon genome scientists and policymakers to engage academic medicine, industry and the public at large in new ways of thinking about genomics in the context of prevention, health and disease.