Editor's Note

Welcome to the Future of Medicine

A greater understanding of our DNA is revolutionizing healthcare. Genome explores how this personalized approach to treatment affects you.

By Jeanette McCarthy, MPH, PhD

In 2001, while working at startup biotechnology company Millennium Pharmaceuticals, my colleague Geoffrey Ginsburg and I wrote an opinion piece in Nature Biotechnology about the new field of personalized medicine. After the first draft of the human genome sequence (which would be completed in 2003), it was evident that this newfound knowledge of human genomics had the potential to dramatically alter how medicine was practiced. We and others were hopeful that medicine would move away from the trial-and-error, one-size-fits-all approach to diagnosis and move toward classification of disease according to the patient’s molecular profile, leading to treatment tailored to the individual.

Last year in Science Translational Medicine, we recounted the various successes of the past decade of personalized medicine and outlined the myriad challenges that still face the field. While we celebrated the use of genomics in targeting cancer treatments, solving diagnostic dilemmas, and improving prenatal diagnosis, our enthusiasm was tempered by low uptake of these technologies outside of academic medical centers. Further examination uncovered a healthcare system that was not primed to incorporate these advances, neither from a technical/logistical standpoint nor from an intellectual one. It was becoming increasingly clear that this field was going nowhere without knowledgeable healthcare providers, patients, and other stakeholders. That’s when I turned in my lab coat and began in earnest to focus on personalized medicine education.

Surveys of physicians indicate a general lack of awareness of available genomic tests, the skills to use these tests, and an appreciation of the associated ethical, social, and economic issues. Today’s physicians don’t have time to retrain themselves in genomics. Many genomic tests lack the evidentiary framework to substantiate their clinical validity and utility. Current information on genomic tests is diffuse, and there are limited unbiased third-party sources of information to turn to. At the same time, patients, whose health is at stake and who have the most to gain from personalized medicine, are connecting with each other via social networks, embracing technologies for monitoring their health, and seeking health information on their own. These patients represent the exact kind of disruptive force needed to propel personalized medicine forward.

Lee Hood, a pioneer in the genome sciences, coined the term “P4 medicine” to capture the growing importance of the patient’s voice in medicine — the notion that personalized medicine should not only be predictive and preventive, but also participatory. Educated and engaged patients can and will play a major role in advancing personalized medicine, but they need trusted sources of information. That’s why we created Genome magazine and why I was so excited to join as editor-in-chief. Our goal is simple: to transform the way healthcare is delivered by inspiring people to demand the care they deserve. Our vision: a world in which everyone knows the power of his genome.

The Genome team has been busy the past few months. We’ve assembled a world-class scientific advisory board, laid out story ideas for upcoming issues, and launched our website. Our advisory board consists of thought leaders in the field of personalized medicine who are on the ground, pushing the field forward. Their role: to make sure that the conversations going on among doctors and researchers about personalized medicine are mirrored in Genome and that our stories are scientifically sound. What kinds of stories will you read in Genome? You’ll read about available genomic tests and treatment options across a range of common diseases, including heart disease, cancer, diabetes, and others. The first issue takes a deep dive into breast cancer but also covers more general areas like prenatal testing and genome sequencing of healthy individuals. You’ll get a glimpse of research innovations that will impact medicine in the future, such as the study of your microbiome, the trillions of microorganisms that colonize your body. You’ll learn about legal, social, and economic issues facing genomic medicine, like the FDA crackdown on direct-to-consumer genetic testing company 23andMe. You will hear firsthand patient stories about experiences with personalized medicine and learn from the experts.

Between issues of our quarterly print magazine, you can visit us at our website (genomebeta.wpengine.com) to read weekly updates on personalized medicine news that affects you, to find resources and links to additional information, and to let us know what you want to read about.

Genome will be the source for practical, actionable information about health and healthcare for patients, caregivers, and healthcare providers. By telling engaging stories about new tests and treatments and other aspects of personalized medicine, we hope to enable patients to live longer and better lives. Welcome to the future of medicine. We hope you enjoy Genome!