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November 17, 2009

Reflecting on Five Years of Progress
Five years ago the Harvard-Partners Center for Genetics and Genomics, an organization that was a joint enterprise of Harvard Medical School and Partners HealthCare in Boston, held a conference on Personalized Medicine (PM). As the subtitle of that first meeting, “Promises and Prospects,” indicated, the conference sought to examine the status of personalized medicine and to bring together different stakeholders in this emerging field. A newly founded organization, the Personalized Medicine Coalition (PMC), joined the effort. The PM conference in 2005 focused on the scientific and medical basis of PM. Two themes emerged from that meeting. One was that a conference organized by a not-for-profit organization, together with an entity whose mission is to educate different societal constituencies about different facets of PM, was a welcome addition. The second theme to come out of that meeting was that the implementation of personalized medicine requires collaborations between academic medical centers, government and its regulatory agencies, businesses, pharmaceutical companies, payers, doctors and patients. 
 
Personalized medicine has evolved significantly during the past five years. In 2005 few people knew about PM and some who did know about it felt that it represented a futuristic view of medicine that may be implemented in 10-15 years. In the ensuing years there has been a significant change in the awareness and attitude about PM. Many influential people in the national administration and Congress have embraced PM as an important component of healthcare future. President Obama, while he was a Senator, introduced PM legislation in the Senate. Michael Leavitt, while he was the Secretary of HHS, embraced PM, and the current Secretary, Kathleen Sebelius, is very supportive. Many pharmaceutical executives are speaking of the importance of personalized medicine in their drug development efforts. An electrifying moment in our 2007 conference was a talk by John Lechleiter, the current CEO of Eli Lilly, championing how a pharmaceutical company can develop excellent drugs based on the principles of PM without sacrificing on profits. Today most, if not all, pharmaceutical companies are developing many drugs based on these principles. At that first meeting in 2005 the payer community did not believe that PM was ready for implementation and there was inadequate evidence to support payer attention. We  are pleased that since then examples of personalized medicine and their success have caught the attention of payers and that this is an important topic in the boardrooms and executive offices.
 
A major development during the past five years is the development and availability of technologies that enable rapid and low cost DNA sequencing. In 2003 when the first human genome sequence was completed it was estimated to have cost nearly two billion dollars.  A few months ago a company announced that it has sequenced human genome for less than $10,000 a genome.  Many believe that the $1,000 genome is just around the corner. This cost of sequencing has important implications for diagnostics and handling the large data sets.  It also has implications for consumer genetics companies that raised excitement in some quarters and concerns in others. Several thought leaders argue that the involvement of consumers in healthcare decision augurs well for our future and the consumer genetics companies have the potential to predict and therefore prevent disease in our population. The role of information technologies in medicine in general and personalized medicine in particular cannot be overemphasized. It is important to assess the current status and future of all these features.
 
Based on the feedback from that first meeting all of the subsequent meetings have been a collaborative effort between the Center, now renamed the Partners HealthCare Center for Personalized Genetic Medicine (PCPGM), Harvard Medical School and the Harvard Business School. The PMC continues to be an active partner in these meetings. Past conferences attracted speakers and participants from many walks of life and the discussions inside and the outside the conference auditorium have been lively. This year we are hosting the 5th annual Personalized Medicine conference. It is going to bring together the largest group ever to celebrate the discoveries and success stories of personalized medicine and explore new ways to bring the power of PM to our healthcare. We believe that the implementation of personalized medicine will result in better outcomes for the patient population at a reduced cost to the society. Such implementation would indeed revolutionize the practice of medicine.
 
This year’s meeting is attracting a more diverse audience than previous years and we expect that there will be many interesting discussions at the meeting. We welcome you to our conference. I am sure you will find something of interest at our meeting. It is also a great opportunity to meet new people.

Read this and related entries at The Age of Personalized Medicine Blog

Posted by Raju Kucherlapati on November 17, 2009 at 10:03 AM in The Conference | Permalink | Comments (0)


November 10, 2009

Insurance Companies and the Case for the Post-mortem Patient

As Raju mentioned in the previous entry, one goal of personalized medicine is to help minimize our country’s skyrocketing healthcare costs. Although this will be accomplished, in part, by using genetic information to improve a physician's ability to deliver targeted treatments to patients, another key component to this financial equation will be the education of insurance companies on how best to use personalized genetic medicine.

To highlight this point, take the case of a family who tragically lost a father from sudden cardiac death due to hypertrophic cardiomyopathy. Since HCM is one of the most commonly inherited cardiovascular diseases, the father’s close relatives, including his young son and daughter, are considered at risk for having inherited the disease. It’s important for the family to understand exactly what mechanisms contributed to the father’s death because this can help guide future healthcare decisions for his little boy and girl.

Although pricey at roughly $3000, tests for most of the genes known to cause HCM exist and insurance companies have demonstrated they will pay to have their patients tested. The standard procedure is to test the proband - or known affected family member - first, then if a genetic mutation is identified, all remaining family members can be tested for the known mutation at a fraction of the cost. In this scenario, the cost to test our father and his two children would be about $3500.

The problem is that the father in our scenario is dead and therefore no longer a patient of his insurance company. What happens now? Well, surprisingly, the insurance company pays a total of $6000 to have both the boy and girl tested for HCM. Let’s say the boy, but not the girl, is found to be positive for a mutation. Without knowing if the father carried this mutation and passed it on to his son, it can be challenging to interpret the significance of the mutation, and even more difficult to predict how this will affect the little boy’s health.

This is a simplified, yet real example of how insurance companies, if not properly educated, can contribute to the increasing cost of healthcare. To help solve this problem, physicians, geneticists, genetic counselors, and the insurance companies need to get together to discuss the most appropriate ways to obtain clinically relevant genetic information. Although this will be an ever evolving and ongoing conversation, patients, and the healthcare industry as a whole will most certainly benefit from these educational collaborations.


Posted by Elizabeth Duffy on November 10, 2009 at 10:47 AM in Healthcare Reform | Permalink | Comments (0)


October 9, 2009

Healthcare Reform
When President Obama took office he was faced with a financial crisis of unprecedented proportions. The President has identified that Healthcare reform is an essential component of our fiscal well being. Healthcare reform has emerged as a critical initiative of the new Presidency. Much of the healthcare reform debate is focused on how to provide access to a large population of uninsured Americans and how to pay to for the costs associated with such an increase. One of the ideas about containing healthcare costs is to provide only those treatments that are known to be effective for each patient. Although the phrase personalized medicine is not frequently used in the healthcare debate, I believe that implementation of personalized medicine could provide medical care that results in better outcomes for patients and at a lower cost. This is the premise of personalized medicine. I have always felt that making personalized medicine a reality requires bringing together all of the stakeholders and have them engage in intense discussions about the status of personalized medicine and the pathways for bringing personalized medicine to healthcare. This year we are celebrating the fifth anniversary of an annual meeting held on the campus of Harvard Medical School in Boston to accomplish this goal. I would like to encourage all who are interested in bringing better healthcare to the populations around the world to join us at this year’s exciting meeting.
Posted by Raju Kucherlapati on October 9, 2009 at 2:36 PM in Healthcare Reform | Permalink | Comments (0)







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