Personalized Medicine Raises Issues of Cost and Efficacy

The seventh annual Personalized Medicine Conference was held this week at Harvard Medical School in Boston, hosted by the Partners Center for Personalized Genetic Medicine. Personalized medicine is founded on the principle of providing customized tailored health care to individuals based on their genetic makeup. This is achieved by sequencing the genome. This conference focused on the state of personalized medicine and the challenges and obstacles ahead concerning whole human genome sequencing. 

Everyone agrees that whole genome sequencing could potentially solve many complex medical issues, particularly in the field of oncology, and in many other areas as well. As one would guess, the main obstacle to whole human genome sequencing is cost. Keynote speaker Ezekiel Emanuel, Chair of the department of Medical Ethics and Health Policy at the University of Pennsylvania, lead with a spirited discussion on whether the cost of gene sequencing will ever be affordable and justified.

 Certainly, everything we do today in health care must be mindful of the cost of care. The very first Human Genome Project took 10 years and cost $3 billion USD (US Dollars). The next project took two years and cost just $300 million USD. Both projects were concluded by 2000 or 2001. Gene sequencing costs have dropped exponentially since then, to the point where today we are discussing the $1,000 genome.  Many predict the cost will, within several years, drop to a level of a few hundred dollars. That will make it totally affordable for many, particularly those individuals faced with a disease for which there is no known cure.

The second challenge to whole human genome sequencing is the issue of data analysis. The cost of sequencing pales in comparison to the cost of establishing the infrastructure and crunching the massive volumes of data needed to make sense of all of the variants in a genome profile.

A third issue is  what to do with this information.  Extensive physician education will be required to help providers make intelligent medical decisions using this information. And finally, there is the question of what consumers will do with their personal genetic data once it is available.

Although the naysayers may place obstacles and objections along the path, the train is out of the station and personalized medicine is moving forward. In my book, e-Patients Live Longer I project that in Health Care 2050 a digital health record will be issued for every newborn that will follow that individual throughout his or her life. After listening to the speakers at this conference, I contend, as well, that whole human genome sequencing by 2050 will become as standard for newborns as the PKU test is today and that it will benefit all of us.

The painful, costly investments that we must make now for digital health IT and for radical advances in diagnostics brought about the sequencing of the human genome will ultimately bring down the cost of healthcare and radically improve our opportunity to address a whole array of difficult health issues. We just have to have the foresight to see beyond the present and think long term.