Genetics in medical practice

Abstract

Medical genetics has been formally recognized as a medical specialty in the United States only within the past decade. Initially, medical genetics was concerned with relatively rare single gene or chromosomal disorders, but with the sequencing of the human genome, genetics has become the driving force in medical research and is now poised for integration into medical practice. This article offers a perspective on the role of genetics in medical practice and how this role may evolve over the next several years. The author classifies the genetic contribution to medical practice into three categories: monogenic or chromosomal disorders, more common disorders due to a monogenic or single gene mutation, and common multifactorial disorders in which the interaction of multiple genes and the environment contribute to the cause of the condition. The author discusses the positives and the potential pitfalls facing primary care physicians and specialists as they incorporate medical genetics into their practices and points out some of the anticipated changes medical genetics will necessitate, such as an increased medical genetics workforce, including geneticists and genetic counselors. The Human Genome Project has made information of inestimable diagnostic and therapeutic importance available. The medical profession now must rise to both the opportunities and challenges that this wealth of information presents.