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From the Bookshelf
by Phil Sahm

Prestigious Medical Genetics Journal Has Editorial Home at U of U

In the 26 years since John M. Opitz, M.D., founded the American Journal of Medical Genetics (AJMG), the publishing world has undergone a revolution.

Opitz, professor of genetics and pediatrics at the University of Utah School of Medicine, founded the journal in 1976, while on the University of Wisconsin medical faculty. In those days, editing and publishing relied on telephones, typewriters and red pencils. Manuscripts traveled via the U.S. mail.

Fast forward a quarter century, and technology has forever changed the practice of publishing.

Personal computers have replaced typewriters, and red pencils have given way to delete buttons. Authors and editors correspond by e-mail that flies through cyberspace. Magazines publish on the Internet.

Opitz' creation changed in that time, too.

While technology revolutionized publishing, the AJMG, under Opitz's guidance, evolved into perhaps the most prestigious of the half dozen or so similar medical genetics journals in the world.

In 1997, Opitz joined the U medical faculty and at the behest of pediatrics department chair Edward B. Clark, M.D., brought the AJMG to Utah. The journal, which is dedicated to providing a scientific forum to identify genetic disorders and the best way to treat them, has offices in Research Park near the U campus.

But the biggest change was still to come.

In January 2001, after nearly 25 years as editor, Opitz stepped down and was succeeded by John C. Carey, M.D., professor of genetics and pediatrics. Opitz serves as editor-in-chief emeritus.

Carey inherited a job transformed by technology.

Manuscript submissions, article reviews and editing now take place on PCs and on the journal's Web site, accessed through www.interscience.wiley.com, the Web page of publisher Wiley-Liss. These technological leaps have become indispensable to Carey, who juggles his magazine duties with a workload that includes teaching, clinical research and spending half of his time seeing patients.

He receives about 900 article submissions a year, about 70 percent of which will be published, and looks at every piece. Some Carey will review and edit; others he sends to a reviewer or hands off to an associate editor to shepherd into publication. All of this is accomplished with computers and the Internet.

"Everything up to the point of sending a final hard copy (of the article) can be done electronically," he said.

Like most scientific and medical publications, the AJMG publishes online, in part because articles can be posted on the Web a couple of months before the hard copy comes out.

While PCs and the Internet have expedited the publishing process, they also have led to a freer exchange of ideas and information. But this flood of information has opened some issues for scientific and medical journals.

Some online medical journals publish articles without peer review, according to David H. Viskochil, M.D., Ph.D., associate professor of pediatrics and chief of the U Division of Genetics in the Department of Pediatrics.

"Some people feel that peer review is too restrictive," said Viskochil, associate editor at AJMG. "They feel that information shouldn't be bottlenecked by one or two people."

That feeling does not prevail at the AJMG. In a journal that delineates new genetic disorders, Carey believes peer review is critical for scientific integrity. Peer review also improves article quality, he says.

Opitz, on sabbatical in Italy, admitted via e-mail to preferring the study of biology to gaining facility with computers or the Internet. He noted, however, that by increasing access to information, the Internet is making better-educated patients who read medical journals more critically. As patients gain more sophisticated knowledge, they affect the articles that the AJMG publishes, Opitz said.

"Their insights and views will, I hope, continue to influence the writing and editing processes toward a greater humanity, lucidity, approachability and plainness of style, so that our writings are easily accessible to the educated lay person," he wrote.

As editor, Opitz prized the role of publishing women and minorities trying to make a name in academic medicine, as well as nurturing international researchers learning the subtleties of writing the English language. He has not entirely relinquished that role in his emeritus position, but the major responsibility of caring for the magazine's standards of style and scientific integrity belongs to Carey.

Like other scientific journals, the AJMG doesn't pay for articles. In fact, authors who submit color pictures with an article pay the journal, because color prints cost more to process. The AJMG publishes 28 times a year, with four special "seminar" issues and eight issues of a related journal, Neuropsychiatric Genetics. Along with Carey, assistant editor Margaret "Meg" Weist, whom he describes as indispensible to publishing the journal, works in the Salt Lake City office.

Although more than 1,000 physicians, geneticists and others subscribe to the journal, Carey says libraries account for the majority of subscriptions, meaning the journal is available to a wide-ranging audience.

PCs and the Internet are one face of change in publishing the past 25 years. Basic science is another, and that will guide the AJMG's future, according to Carey.

As physicians and scientists probe the estimated 40,000 genes from the draft of the genome project, the ability to repair genetic defects that cause disease, or to switch on genetic functions to prevent disease, will become the focus of the AJMG, according to Carey.

About one-third of individual human genes are linked to abnormalities. That leaves two-thirds of genes-acting either individually or in concert-with undiscovered links to disease. As researchers gain the knowledge and tools to unlock these secrets, the journal will document it.

"Ten years from now, we'll be publishing that kind of work," Carey said.

Editing an internationally prestigious medical journal brings professional and scientific satisfaction. But, perhaps, the most fulfilling reward as a physician comes in identifying rare diseases, or in elucidating treatment for these diseases. In two recent instances, for example, stories in the journal helped Carey identify a rare chromosome disease in an infant, as well as identify children with a genetic syndrome that puts them at higher risk for two types of cancer. In the latter case, Carey notified patients and their parents of the information.

That translates into real benefits for patients-the AJMG's ultimate raison d'etre, according to Carey.

"Everyone's goal is to improve our knowledge of patient care," he said.

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