I recently attended the 7th Annual Personalized Medicine conference sponsored by Partners Health Care Center for Genetics and Genomics and was amazed at the progress being made in this field. Since the time that the Human Genome Project was completed in 2003, gene sequencing technology has moved rapidly, becoming less expensive and therefore more available. In the very near future the cost of doing a whole genome sequencing will be under $1,000 and affordable to many individuals in the mainstream. What this means is that physicians will be able to tailor medical treatment to the individual characteristics of each patient, based on their unique molecular and genetic profile that indicates whether or not they are susceptible to certain diseases.
This will help physicians determine which medical treatments will be safe and effective for each of us and which might be counter. It means that individuals will have to become even more engaged in their health care, because they will be faced with the dilemma of having to make decisions about their life and life style based on knowledge about what they might be physically dealing with, as they age. It is in the nature of humans to want knowledge and information, especially about themselves. Ultimately many individuals, who can afford to, will make the decision to do whole gene sequencing.
There are already studies where findings based on genetic variations are initiating changes in options and treatment approaches. For example, researchers, using gene sequencing, have learned that not only does lung cancer vary in patients based on the specific genes that contribute to its onset and progression, but that different individuals with the same lung cancer respond to different drug treatments, also based on their genetic differences. Put into practice, this approach has resulted in more positive outcomes.
In cardiac disease as well, genetic tests which detect variations in the way people may be at risk of excessive bleeding, and other genetic tests that determine how people metabolize the drug Coumadin (warfarin) which is used to prevent blood clots, determine how the drug is administered to different individuals, and in what dosage. www.fda.gov/NewsEvents/Newsroom/PressAnnouncement/2007/ucm108967.htm
Eventually gene sequencing will spread throughout the population. A study is underway at Inova Health Systems of 500 families whose newborns’ medical history includes a preterm whole genome sequencing to identify molecular markers and genetic differences. The goal of the study is to learn more about disease prevention and detection as the newborns mature. www.inova.org/clinical-education-and-research/research/inova-transitional-medicine-institute
While this is a tiny segment of the newborn population, there will be a time (perhaps in 25 years, or less) when all babies will have their genome sequenced and the results preserved as part of their digital health record. This genetic information will become a standard element of a person’s medical history, and will follow that individual through life. It will determine many aspects of the individual’s medical treatment.
There are many hurdles and challenges before whole genome sequencing will become ubiquitous. There are issues of bringing down the cost of whole genome sequencing so that it is affordable and perhaps even covered by medical insurance. There is a greater challenge of how to deal with the massive amounts of data that result from whole genome sequencing including who will pay for the analysis of the data, how will the data be stored and regulated and how privacy of health information will be attained.
Personalized medicine forces all of us to be more participatory in our health care because decisions about whether or not to opt for genome sequencing is one that we have to make for ourselves. We are also forced to make life altering decisions, based on the data, regarding:
· Whether we are going to address a potential disease that may be in our genetic markers, in advance of the onset of the disease
· What we will do with this information
· How the genetic information we receive might influence our decision to have children
· How to protect our children regarding what is revealed in their genetic history.
Personalized medicine is a revolutionary trend that deserves the attention of every individual who is engaged and educated about health care because the benefits are huge and the responsibilities, both on the part of the individual and society, to use this information for positive medical advancement and better personal outcomes is daunting.