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For The Greater Good

June 17, 2013 | APPEARED IN VOLUME 91, ISSUE 24

The article on the 10th anniversary of completion of the Human Genome Project (HGP) asserts that, despite the multi-billion-dollar investment, it’s “still too soon to tell whether the project will live up to its promise to truly revolutionize medical care” (C&EN, May 20, page 26). Alas, families like mine fear that a far-reaching revolution of sorts has already occurred.

Some of my relatives and I lead lives of quiet dignity and triumph in the face of brittle bone disease (osteogenesis imperfecta), which has recurred among us over many generations. Although we once looked to hospitals for a friendly helping hand in times of need, our experience has not met our expectations. On presenting my daughter for treatment after her first fracture, I was disturbed to discover that major pediatric and maternity hospitals are now in the habit of tricking families like ours into attending unexpected consultations with genetic counselors. During one consultation, my wife and I were disdainfully told, “We want to ensure you don’t have another one of those!”

Rather than nurturing therapeutic innovation as National Institutes of Health Director Francis S. Collins optimistically suggests, recent history shows that new discoveries concerning inherited disease instead fuel the development of prenatal diagnostic tests. The tests are used for the obsessive quest for genetic perfection now under way in maternity hospitals.

Unless I am greatly mistaken, the path of seeking genetic perfection will more likely foster the stagnation of pharmaceutical innovation, not its invigoration: The prematurely departed imperfect will need few new drugs, after all, to try to survive.

In light of the questionable benefits to human therapeutics that have flowed from the HGP, I dare to dream of an alternative and more ennobling trajectory for the research enterprise. What if, as home to the world’s most vibrant community of talented chemists, the U.S. instead invested $3.8 billion in medicinal chemistry over the next decade, with efforts focused on the pharmacological alleviation of human suffering? Not only would families like mine sleep more soundly at night, but my own discipline of pharmacology might face a rosier future.

Philip Burcham



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