Stanford Medicine magazine on how genomics is transforming medicine
BY SUSAN IPAKTCHIAN
Richard Quake was devastated by the sudden, inexplicable death of his seemingly healthy 17-year-old son, Richie.
Although the coroner eventually ruled the death was most likely due to a previously undiagnosed heart problem, Quake was not satisfied. He insisted the coroner collect both blood and tissue samples from his son’s body. “I told him, ‘I need you to save everything you possibly can for future testing,’” Quake recalled. “At the time, I really had no idea why I said that.”
Those samples are now being used in an unprecedented “molecular autopsy” at the Stanford University School of Medicine, where researchers are trying to help determine what caused Richie Quake’s death and bring some peace to his family.
It’s a unique undertaking that underscores the new role that genomics is playing in the world of medicine, as researchers and physicians move closer to using a patient’s genetic information to determine the most effective treatment methods and, possibly, explain deaths like that of Richie Quake.
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The fall issue of Stanford Medicine magazine explores the dawning age of personalized medicine and its implications for all of us. As Dean Philip Pizzo, MD, notes in the magazine, many people wonder if personalized medicine is “a serious approach to improving patient care or just a lot of hype. Actually, it’s both.” He adds that while an individual’s genome sequence will become a powerful tool for personalizing medicine, it will be only part of the story.
Other articles in the personalized medicine package:
- A feature about a pioneering genetics course taught this summer at the medical school that included DNA testing for students. The article describes the ethical questions stirred up by the issue.
- A Q&A with Wired editor Thomas Goetz on using technology to take control of your health.
- A piece that looks beyond genes to describe a newly discovered type of molecule — called lincRNA — that tells our genes what to do.
- The story of a gene-targeted cancer treatment designed for people with triple-negative breast cancer, a subtype that occurs most often in women of African and Hispanic descent and is an especially hard cancer to treat.
This issue’s “Plus” section, featuring stories unrelated to the special report, includes:
- A feature about a long-ignored cell part called the primary cilium. Researchers are realizing it’s vitally important, serving as the cell’s antenna.
- An article on the importance for elderly patients and their doctors to consider the pros and cons of dialysis before starting — because for these patients in many cases dialysis only minimally extends life yet seriously lowers its quality.
The magazine, including web-only features, is available online at http://stanmed.stanford.edu. To request the print version, call (650) 736-0297 or e-mail medmag@stanford.edu.
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