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.

Previous Section Next Section

The Legal Status of Genes and Genetics

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 for man-made vectors, but subsequently for human genomic DNA that had merely been isolated and purified. Central to the claim of such gene “patents” was that an isolated and purified gene (or synthetic gene) is different from its naturally occurring counterpart. Holders of these patents asserted that patenting isolated compounds was a practice essential to the growth of the US biotechnology industry.

The patenting of genes since the 1980 landmark decision by the Supreme Court has not been without controversy. Critics have argued that the USPTO has been too liberal in its approval of gene patents, saying that many of these patents are inappropriate because they merely represent observations of naturally occurring DNA sequences. They claim that the actions of the USPTO hinder research, because scientists are restricted in the research they can perform on DNA associated with patents. Similarly, they also suggest it might impair the use of the patented genetic material in clinical testing procedures and ultimately the affordability of and access to care.

In recent years, this issue has received interest in Congress, with legislation introduced that would restrict the practice of the USPTO in issuing gene patents. More significantly, the validity of some of these gene patents has been challenged in federal court, leading to renewed uncertainty of the patentability of the ≈20 000 genes in the human genome. With a large number of human genes currently subject in some way to patent protection, court decisions on intellectual property law with regard to DNA patents may have profound implications for the delivery of personalized medicine.