The Myth of Average: Why Individual Patient Differences Matter

Everyone understands the need to bring greater cost-efficiency to American healthcare. That desire to contain spending drives changes in both the public and private sectors. Yet, what we’ve learned – and are learning more each day through advances in personalized medicine – is that there is no single solution for the healthcare needs of an entire population.

This challenge is going to receive a much-needed focus at the forum, “The Myth of Average: Why Individual Patient Differences Matter,” taking place on November 30 in Washington, D.C. As a co-sponsor for this full-day discussion, the Personalized Medicine Coalition applauds our colleagues at the National Pharmaceutical Council, National Health Council, and WellPoint for constructing an event at which the dialogue can truly make a difference. Leaders from the Centers for Medicare and Medicaid Services (CMS) and the Patient-Centered Outcomes Research Institute (PCORI) will be on hand, alongside patient representatives and experts in biopharmaceutical innovation and medical research.

Speakers will share their perspectives on how health policy decisions can impact patient care and specifically inform a broader understanding that comparative effectiveness research has an important role to play in improving clinical care. You can view the full agenda at http://www.regonline.com/builder/site/tab2.aspx?EventID=1129899. I hope to see you there.

Personalized Medicine Is Waiting on the Shelf

While there’s a tendency to paint the future of personalized medicine as sunny, there are a number of issues persistently clouding the horizon. Bob Langreth and I examine one of these concerns in a story you can read at Bloomberg entitled, “Life-Saving DNA Test Overlooked in Rise of Colon Cancer.” Provider education has long stood in the way of patient access to genetic tests for Lynch syndrome, an inherited cause of high cancer risk. While the testing has been available for more than 10 years, enjoys recommendations from clinical and public health groups, and has been shown to save lives in studies, many providers remain unaware of its availability and power. The test costs as little as $300 in families where the mutation has already been identified. People who test positive can take preventive action with frequent monitoring, perhaps having vulnerable tissue removed.  Yet in too many cases it remains on the shelf.

How are we going to get the benefit of full genomes when simple, straightforward tests like this go unused?

John Lauerman will be participating in the panel discussion, “Impact of Genome Sequencing and Health,” at Harvard’s 8th Annual Personalized Medicine Conference, November 28-29, 2012, in Boston, Massachusetts.

The 8th Annual Personalized Medicine Conference

On November 28th and 29th, Partners HealthCare, Harvard Medical School, and Harvard Business School will host the 8th Annual Personalized Medicine Conference in Boston. As has been customary since the conference began, the meeting is also the venue at which the Personalized Medicine Coalition presents its leadership award. This year, it will go to Randy Scott, Ph.D., a founder and former CEO of Genomic Health, Inc.

During the past seven years, we have seen many changes in personalized medicine. Much of the excitement about personalized medicine continues to be driven by the ever decreasing cost of sequencing DNA and RNA. Whole genome sequencing, estimated to cost a billion dollars or more at the beginning of the century has gone down to a few thousand dollars, and the so called $1,000 genome is not too far behind. All in all, the 20,000 or so genes of the human genome only add up to less than two percent of the genome. If the sequencing cost is directly proportional to the size of DNA that is being sequenced, the cost of sequencing all genes should one day be no more $100. We are not quite there yet, but the rapid decline in costs is fueling the evolution of personalized medicine.

There is also a rapid evolution in our understanding of the genes and genomes of many organisms, including humans. Understanding how a normal gene functions and how changes in it (mutations) alter the cellular function is increasing at a rapid pace. As a result, sequencing whole genomes, whole exomes (all of the coding portions of genes), and subsets of genes for medical purposes is becoming ever more common. The fruits of all of these exciting developments are evident in many specialties of medicine but especially in prenatal testing, diagnosis of newborn and pediatric disorders, and cancer.

This year’s conference will highlight the genomic advances in science and medicine, and how they are being applied to diagnose and treat many disorders. The rapid development of technology also raises many questions about the clinical utility of these advances; about the policy and regulatory issues around what, when, who, and how to regulate; and about how the costs are reimbursed.

Personalized medicine is not just an American issue. Many nations of the world are developing strategies to implement personalized medicine in their own countries, and a number of those efforts will be featured at the conference. Professor Richard Hamermesh of the Harvard Business School and Norman Selby of Perseus LLC developed a business case on companion diagnostics that promises to be thought provoking and, based on previous years’ experience, a highlight of the conference.

Please join us at the end of November and participate in the dialog about how personalized medicine is evolving and what its implications are for your health and that of all peoples of the world.

Register online at www.personalizedmedicineconference.org. Follow the conversation online at @HarvardPMConf and #PMConf.

Less May Be More

Personalized Medicine has come to be strongly associated with drug-diagnostic combinations (companion diagnostics).  While this is a very important aspect of personalized medicine, it is not the goal.  The goal of personalized medicine is to find the best possible care for each individual patient so as to maximize the likelihood of the individual achieving his/her personal life goals.  While this may seem obvious, this principle has become increasingly harder to identify in every day medical care.

A variety of different motivations has encouraged the healthcare enterprise to view illnesses, or even everyday complaints as the opportunity – if not obligation – to do something for the patient.  The better approach is to ask: What is the best thing one can do for a patient, including the possibility of doing nothing?

As we develop better drug-diagnostic combinations, this will become increasingly apparent.  Soon we will have the ability (through use of precise molecular diagnostics) to know with reasonable certainty whether there is little or no benefit for a particular individual to pursue a therapy which had historically been the standard of care.

But, are we truly ready to forgo a potential therapy even if such a decision is based on strong scientific data?  Or, will we continue to use a therapy on the off chance it might work?  Our desire to do something has to include the possibility that the best treatment might be no therapy, based on the risks to the patient, the likely benefits, and the life goals of the individual.  In the end, patients want their healthcare providers to help them make the best choice and personalized medicine can be a strong tool to do that.  This will provide the largest benefit for patients as they avoid the risks that come with all therapies when no benefit is realistically to be had.

Dr. Stephen Eck will be moderating a panel discussion on Wednesday, November 28, 2012 at the 8th Annual Personalized Medicine Conference in Boston, Massachusetts.  Join the discussion at #PMConf.