Genetics and Cardiovascular Disease

Abstract

Although the power of family history to identify a genetic predisposition to disease has been appreciated for some time, it is only recently, through the development of efficient methods for molecular genotyping and specific genetic tests, that a detailed genetic evaluation could be used to influence clinical medicine. Indeed, the mapping of the human genome and the more recent development of high-throughput methodologies have the potential to entirely transform how we think about genetic predisposition to disease. This represents a great opportunity to improve human health. Yet these recent technological advances also create new moral, ethical, and legal challenges that must be addressed before the opportunities to improve human health can be fully realized. In the present report, we summarize the existing regulatory landscape with respect to the use of genetic information in clinical medicine and offer new policy recommendations designed to facilitate the safe incorporation of the latest technologies and research findings into the clinical domain. Specifically, we focus on areas in which genetic evaluation, including personal and family history, examination, counseling, and testing, has the potential to impact the practice of cardiovascular medicine and research. ### Gene Patents Patent law is enshrined in the US Constitution in Article I, Section 8, and the principles imply that to be patent eligible, an invention needs to demonstrate novelty, utility, and nonobviousness. As such, although the patenting of raw naturally occurring materials has been generally rejected, where significant innovation is involved in its isolation, the patent office has generally granted protection (for example, insulin and adrenaline). In 1980, the US Supreme Court deemed a living organism patentable ( Diamond v Chakrabarty ) if “man-made,” as potentially accomplished via genetic engineering. In the wake of this decision, the US Patent and Trademark Office (USPTO) began to approve applications with DNA sequences central to the patent claim, initially …