Mapping of the human genome is becoming faster, easier and cheaper due to rapidly evolving technology. When I graduated from university just over a decade ago, a working draft of the human genome was announced after a public investment of $3 billion (US).1 In 2012, after many advances in sequencing technology, the price has plummeted to $3000. One life science company even claims they plan to lower the cost to $1000 by year-end.2 The drastically reduced price makes these services accessible to individual consumers. So it begs the question, to map or not to map?
Testing for particular genetic variations associated with an increased risk of disease would seem to make sense. For example, testing for the breast cancer genes BRCA1 and BRCA2. While these genes are associated with a five times greater risk for breast cancer and a 10−30 times greater risk for ovarian cancer, once identified, appropriate screening and preventative measures can be implemented to mitigate that risk.
On the other hand, there are tests to identify “risk” for many more conditions where no treatments are available or the scientific link is not as strong. In these cases, a positive test may only result in unnecessary stress on the patient. And, of course, our genes do not operate in a vacuum. Lifestyle factors have a strong influence on many of the conditions plaguing the human population, such as cardiovascular disease and type 2 diabetes.
Still, the question remains, to map or not to map? I recall hearing about one of these services in 2009, and at the time it seemed an extravagant expense for a service of unknown value. In three years my outlook has changed – the birth of my son; a friend’s daughter identified as a carrier for cystic fibrosis; the death of a parent.
I now want to know what my genes can tell me. We are the first generation of adults with the chance to arm ourselves with this information, and the opportunity to make lifestyle changes to mitigate any identified risks. As the directors of our health care system debate the utility of screening programs based on the population en masse, I want to be able to navigate the system and direct my care moving forward based on my needs.