If there was ever a doubt that we had entered the age of personalized medicine, it was dispelled unequivocally by the recent (December 2013) granting of marketing authorization by the U.S. Food and Drug Administration (FDA) for the first high-throughput (next-generation) genomic sequencer, Illumina’s MiDeqDx. As stated in an insightful article by Francis Collins, director of the National Institutes of Health, and Margaret Hamburg, commissioner of the FDA, the marketing authorization of a non-disease-specific platform will allow any lab to test any sequence for any purpose.1 In addition to providing background information on the issues that entered into the approval process, the article by Dr. Collins and Dr. Hamburg focused attention on the importance of developing regulatory and oversight policies and protecting patients’ rights. In the United States, genetic analysis is as much about politics and policy as it is about science and medicine. Hematology has pioneered the field of genetic medicine, and it is likely that we, as hematologists, will initially dominate the use of this new clinical technology. Because of this tacit prominence, we will be counted on by colleagues to guide both the appropriate use of the technology and the proper interpretation of information derived from such studies. Accordingly, it is imperative that we be informed about how the information can be used, especially as it relates to patient privacy. We are pleased to have in this edition of The Hematologist an op-ed by Louise M. Slaughter, Member of Congress from New York, who championed the Genetic Information Nondiscrimination Act (GINA). We all need to be aware of the information contained in this act so that patients can be confidently informed of their rights and have their privacy protected. The Society has long been aware of the important role that genetic information plays in the science and practice of hematology, and ASH has been a leader in codifying an institutional position dealing with the complex issues involved in this brave new field.2
It is interesting to trace the arc of discovery in genetics from Charles Darwin and Gregor Mendel; to Thomas Hunt Morgan; to James Watson, Francis Crick, and Rosalind Franklin; to Janet Rowley; and finally to the Human Genome Project. Among these luminaries, Dr. Rowley pioneered the use of genetic information to define the molecular basis of hematologic malignancies. Her discoveries revolutionized diagnosis and management of a broad spectrum of diseases and led directly to the new era of molecularly targeted drug therapy. In this issue of The Hematologist, we pay tribute to the career of Dr. Rowley who died this past December, 60 years after Watson and Crick described the structure of DNA and 10 years after the complete sequencing of the human genome. We also honor the memory of both Dr. Jane Desforges, a past president of ASH who made so many contributions to academic medicine, and Dr. John Goldman, a widely respected international member of the Society whose research and mentoring influenced the careers of a number of ASH members.
Where this journey on the path of genetic-based discovery will lead us is uncertain, but in a timely, fascinating article published in The New Yorker magazine, Michael Specter shows us that the highway will certainly be crowded and that the rules of the road are yet to be written.3
