Most recently an article in the Ottawa Citizen discussed a new protocol being used to help answer questions surrounding the sudden deaths of seemingly fit young people. Dr. Gollob, the University of Ottawa Heart Institute director of Arrhythmia Research Laboratory , approached Ontario’s chief coroner about establishing guidelines for dealing with sudden unexpected deaths in the under 40 age group.

The protocol directs pathologists conducting autopsies to collect and store tissue samples for the purpose of genetic testing with the ultimate goal of preventing other deaths. Despite anatomically perfect hearts, patients with some kinds of genetic disease will have a defect at the molecular level that can only be confirmed with DNA testing. This information could be important for relatives and for future understanding of their cardiovascular risks.

With a whole new realm of medical understanding opening its doors to us, it will become increasingly important to organize and assess the benefit of genetic testing along with the cost-effectiveness both collectively and at an individual level.

In 2003 when the first human genome was decoded, the overall cost was about $3 billion US. Just two years later the cost had fallen to $15 million. With rapidly decreasing costs of mapping personal genetic sequencing, it is likely that the $1,000 personal genome will be available within the next decade.

According to a July 18^th, 2008 article in the Economist, “It’s in your genes-maybe”, the “genome chip” can detect one million or more specific genetic variations in an individual’s DNA at a time with the potential to turbo-charge our health care. Using methods to identify “single nucleotide polymorphisms” or “snips” for short, researchers are identifying new disease markers weekly.

In some cases, the understanding of disease at the molecular level may be straightforward if the disease susceptibility can be identified by a “monogenic” test. But this approach is likely only to apply to 5% of diseases. Most other diseases are related to an interplay of many different genes and other factors.

We may be years away from individuals presenting their “genome card” upon their visit for health care but the era of personalized medicine is upon us and it would be wise for entities funding health care to understand the potential benefits and the financial obligations of such developments as well as the infrastructure required to sustain such new science and technology.