Rapid advances in the technologies giving scientists the ability to analyze, understand and identify the unique characteristics in the genome of every human being are now being translated into clinical applications that are actually prolonging the life of many individuals afflicted with a variety of diseases.  This was evident at the 10th anniversary of the Personalized Medicine Conference, sponsored by Harvard Medical School and Partners Healthcare recently.

The presentations focused on the great strides that have been made since the conference began a decade ago, when conference participants were talking about possibilities that genome sequencing might offer, along with the high costs associated with this technology.

It was evident this year that those possibilities have evolved into concrete clinical applications that are saving the lives of patients with complex conditions, particularly in the field of oncology.  It was also apparent that the costs, which were a prohibiting factor just a few years ago, are lining up to make this technology not only feasible, but realistic.

When one of the first individual genomes was sequenced in 2007, that of James Watson, co-discoverer of DNA’s double-helix shape, it cost around $1 million. According to an article in Nature, right now it typically costs $1,000 to $4,000 to map out an individual’s genome. (Specialized sequencing — for, say, a cancer patient – might be somewhat more expensive.)

Long term, the goal is to bring the cost down to @ $100.  This will enable every person to have a genome sequence if they wish, to determine if they are a carrier, or have any of the known genetic conditions. This can help individuals address potential diseases early on, and enable scientists to work more effectively toward finding a cure.

While almost all diseases have a genetic component, it is still not entirely clear how the information obtained from sequencing the genome will translate into improved care. The quest to find the biomarkers that identify irregularities in the genome, does not resolve the issue of how we empower clinicians with the tools to attack these huge data sets and draw conclusions that would help their patients. (My own physicians at MGH tell me that if I were to have a genome sequence, there is no clinician on my team, today, who could read the data and draw meaningful conclusions that would alter my health outcomes). That day is not far off,but it comes with many hurdles, including:

1. Is genome sequencing another divide that splits the patient population into those who can afford sequencing and those who cannot?
2. Will sequencing be covered by health insurance, and under what circumstances?
3. How do we store, manage, and protect the massive data sets that come from sequencing the human genome?
4. What are the ethical and regulatory considerations that need to be addressed, sooner, rather than later, including the fact that research is already ongoing that looks at how to alter an individual’s genome to avert disease? Could this lead to insidious behaviors such as creating a master race?
5. What are the privacy issues, and personal employment risks associated with genome sequencing and how will they be addressed? (If my employer who self-insures, finds out that I have a gene that indicates that I could develop ALS, and chooses not to promote me, or worse, fires me, how will we handle such issues?)

The hope is that along with the rapid strides in genetics and genomics, clinicians and e-patients work together to address some of these legal and ethical challenges, before this multidimensional technology becomes more ubiquitous.