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. 

Shaping the Future of Personalized Medicine with TEDMED

I had the opportunity recently to participate in a TEDMED Great Challenges panel discussion entitled, “Shaping the Future of Personalized Medicine.” My fellow panelists and Challenge Teammates included representatives from 23andMe, Foundation Medicine, Illumina, and InformedDNA.

As we discussed the challenges, opportunities and benefits of personalized medicine, three themes emerged.

First, personalized medicine, at its root, is about empowering patients to participate in their own healthcare. Trends in popular culture are meshing with advances in technology to allow consumers access to their health information and the ability to make informed decisions, and our culture is changing in that many now demand to be an involved party in their healthcare.

Amber Trivedi of InformedDNA noted that the power of personalized medicine lies not only in treatment, but prevention. As a genetic counselor, the most common questions asked by her patients are:  “What does my genetic information mean to me, and what will it mean to my children?” The best scenario for personalized medicine in action will come when patients are able to see not only the implications of their genetic dispositions, but also are motivated and empowered to use that information in preventative care.

Second, as Michael Pellini, the CEO of Foundation Medicine said, data has to be “accurate and actionable” to have value. However, we cannot discount the potential future benefits of the data discoveries that are underway today. We must find a balance between supporting ongoing data discovery and analysis, while also pushing for data that are actionable now.

Third, traditional healthcare models need to continue to shift to aid in the advancement of personalized medicine. Research cannot continue to solely focus on large population studies; payers need to develop innovative approaches to improve reimbursement policies; and healthcare professionals need training and resources to enable the adoption of personalized medicine in the clinical world.

Finally, when asked what we found to be the most invigorating about personalized medicine, my fellow panelists were quick to share the advances they see on the horizon, including an explosion in targeted therapies aided by new technologies; the shift of cancer to a chronic disease; revolutionizing the treatment of infectious disease through the application of lessons learned from personalized medicine advances in cancer; and deeper data mining enabled by technology currently used in other fields.

Regardless of our individual areas of focus within the world of personalized medicine, this Challenge Team is energized and optimistic about the future of medicine.

Follow the Great Challenges conversation, and submit your questions or comments on Twitter using #GreatChallenges, or at TEDMED.