The History and Future of Personalized Medicine

Many of us in the genetics and genomics community think that this a golden age for our work. During the last thirty years or so, it has become apparent that genetics plays a very important role in virtually all aspects of human health and disease.

The completion of the human genome sequence at the beginning of this century promised that the use of genetic and genomic tools in understanding the basis for disease and in providing novel approaches to care would become available. It was anticipated that genetic and genomic testing would allow accurate diagnosis of disease, determine the prognosis for the patients with disease, and help physicians make the most optimal choices about how to treat their patients.

This promise launched the era of Personalized Medicine. Several academic institutions embraced this concept. In Boston, Harvard Medical School and Partners HealthCare (the parent organization for several major hospitals in Massachusetts including the Brigham and Women’s Hospital and the Massachusetts General Hospital) launched a new center designated the Harvard Partners Center for Genetics and Genomics (HPCGG), and I had the privilege of being its first Scientific Director.

HPCGG wished to promote personalized medicine and decided that one way to accomplish that goal was to provide a forum for review of the advances in personalized medicine, in all of its facets, and to discuss ways in which the field can be advanced and have an impact on patient care. This vision was shared by a few other organizations including Edward Abrahams of the Personalized Medicine Coalition and Marcia Kean of Feinstein Kean Healthcare. Together we launched the annual Personalized Medicine Conference.

We have always felt that to advance personalized medicine, business had to embrace the concept and find value in investing in this enterprise. To promote that goal, we were joined by Regi Herzlinger, Richard Hamermesh and their many colleagues at Harvard Business School.

In 2014, we are celebrating the tenth anniversary of the Conference as well as the anniversary of the birth of the Personalized Medicine Coalition. The past decade has witnessed many exciting new developments in personalized medicine: the significant reduction in the cost of DNA sequencing and related technologies; the use of these technologies for an unprecedented rate of discovery of human disease genes; a near universal acceptance of the importance of genetics and genomics in drug development, especially for cancer; the levels of investment in personalized medicine companies; recognition of the importance of personalized medicine by professional societies; and the deep involvement by the administrative and legislative bodies in the U.S. and throughout the world.

There have been exciting moments such as the passage of the Genetic Information Non-discrimination Act; the successful launch and execution of whole exome and whole genome sequencing to understand diseases such as cancer and several childhood disorders of unknown etiology; and the development of novel drugs and therapies based on the genetic constitution of individuals or tumors. There are frustrations around the lack of certainty about regulation and reimbursement — but such is progress!

The tenth anniversary of the Personalized Medicine Conference, to be held on the campus of Harvard Medical School November 12-13, 2014, will again bring together leaders from many different areas of personalized medicine and promises to provide a lively forum for exchange of ideas. I personally welcome the opportunity to again host this meeting in November and look forward to seeing you and greeting you there.

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The Personalized Medicine Conference is an annual two-day event co-hosted and presented by Partners HealthCare Personalized Medicine, Harvard Business School, and Harvard Medical School in association with the American Association for Cancer Research and Personalized Medicine Coalition. 

For more information and to register for the 10th Annual Personalized Medicine Conference, please visit http://www.personalizedmedicineconference.org.

Required Reading: August 2014

Great stories are published daily about the impact personalized medicine is having on individual patients, and the medical community as a whole, but it can be a challenge to stay on top of the news. With that in mind, we bring to you a monthly roundup of the three to five most thought-provoking articles we are reading, sharing and discussing with our colleagues.

This is the August 2014 installment of Required Reading.

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The Price of Personalization by Timothy Gower, Proto Magazine

This article explores the growing debate over the cost and value of personalized medicines and identifies ways that the healthcare system may need to adapt to accommodate the development and use of increasingly more targeted therapies that work for smaller patient populations.

FDA to Regulate Thousands Of Cancer, Genetic, and Other Diagnostics by Matthew Herper, Forbes

Earlier this month, the U.S. Food and Drug Administration (FDA) announced plans to regulate laboratory developed tests, many of which are diagnostics developed as result of the exploding field of genetics. The new regulatory framework proposes that any test used to diagnose a disease or to decide on a course of treatment will need to be cleared by FDA before it can be utilized.

It’s Time for Us to Think About Cancer Differently by Paul Mejia, Newsweek

A recent genomic study published in the journal Cell suggests that 1 in 10 cancer patients could be more accurately diagnosed if cancer were defined by molecular and genetic characteristics, rather than by where it is located. Researchers believe that reclassifying cancer by identifying the type of cell that caused the disease, instead of the tissue type, could ultimately lead to better treatment in the future.

RNA Combination Therapy for Lung Cancer Offers Promise for Personalized Medicine by Kevin Leonardi, MIT News

Early research at the Koch Institute for Integrative Cancer Research at MIT offers promise for personalized cancer treatments using RNA combination therapies to improve therapeutic response. The development of an efficient delivery system of individual or combined small RNAs to solid tumors could help regulate genetic mutations underlying a given patient’s cancer.

Required Reading: July 2014

Great stories are published daily about the impact personalized medicine is having on individual patients, and the medical community as a whole, but it can be a challenge to stay on top of the news. With that in mind, we bring to you a monthly roundup of the three to five most thought-provoking articles we are reading, sharing and discussing with our colleagues.

This is the July 2014 installment of Required Reading.

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Nobody is Average but What to Do About It? The Challenge of Individualized Disease Prevention Based on Genomics by Muin J. Khoury, CDC Genomics and Health Impact Blog

When it comes to individual health risks, there is no such thing as average, yet most health guidelines and recommendations are tailored to “average” individuals in the population. This blog post by Muin J. Khoury, director of the Office of Public Health Genomics at the Centers for Disease Control and Prevention highlights some of the challenges to actualizing the concept of individualized disease prevention and best utilizing each individual’s biological uniqueness.

The Emotional Side of Personalized Medicine by Ide Mills, Genome

For more than 30 years, Ide Mills worked as an oncology social worker, health educator, and communication strategist. Now as a woman living with advanced, ALK-positive non-small cell lung cancer, Mills tells Genome magazine about her experience transitioning from intravenous chemotherapy to a twice-daily pill regimen to help treat her disease. Her story details the challenges – and improvements – she experienced adjusting to the concept of oral cancer therapy and taking an active role in her healthcare.

23andMe Co-founder Anne Wojcicki’s Washington Charm Offensive by Ariana Eunjung Cha, The Washington Post

When she founded genetic company 23andMe more than six years ago, Anne Wojcicki’s ultimate goal was for people to be in control of their own healthcare. Wojcicki is still determined to change the way traditional healthcare works in the United States by shifting the focus to individuals instead of institutions. 23andMe is currently working with the U.S. Food and Drug Administration to get approval for its direct-to-consumer personal health reports that analyze an individual’s DNA.

As Sequencing Moves into Clinical Use, Insurers Balk by Julie Steenhuysen, Reuters 

A number of major insurers are beginning to address the increasing availability and usage of gene-sequencing tests by seeking proof that the results will lead to meaningful treatments among the estimated 2 million Americans with a serious, undiagnosed disease. Genetic experts have responded saying that gene-sequencing tests, such as exome sequencing, are bringing hope to families by more than doubling the chances they will get a diagnosis and saving them money by not spending it on multiple tests of a single gene. 

Developing New Tools to Support Regulatory Use of “Next Gen Sequencing” Data by Carolyn A. Wilson, Ph.D., FDAVoice blog

In last month’s Required Reading, we shared an article from The New York Times about next-generation sequencing (NGS). Learn more about the private cloud-based environment called the High-Performance Integrated Virtual Environment (HIVE) that the Center for Biologics Evaluation and Research supported the development of to help prepare the U.S. Food and Drug Administration to review and understand the interpretation and significance of data in regulatory submissions that include NGS.