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ASHG Meeting Reveals How Information Age Developments Are Affecting Genetics


SAN FRANCISCO--Like a group portrait at a family reunion, the 49th meeting of the American Society of Human Genetics held here October 19-23 provided a snapshot of a diverse and rapidly evolving specialty.

In an address entitled "Human Genetics in the Information Age," Uta Francke, president of the society and a professor at Stanford University, recalled that prior to 1970 it wasn't even possible to identify individual chromosomes by banding. Then came interspecies DNA hybridization, followed by PCR, large-scale physical mapping, and whole genome sequencing. As new techniques transformed genetics, researchers packed up their microscopes and replaced them with computers.

Along with the tools of the trade, the meeting provided evidence that the very way of thinking about science has changed: the classical hypothesis-driven approach is being overtaken by large-scale, data-driven science, whose method might be paraphrased as "let's do everything, then sift the results to see what we have discovered."

Modern genetics is multidisciplinary, requiring the input of mathematicians, software engineers, biologists, physicians, and pathologists. People trained in more than one field, who can communicate across specialties, are in demand, and networks and databases are altering how information is acquired, and how researchers, doctors, and patients relate to each other. With a preliminary version of the entire human genome sequence becoming available as early as spring of the year 2000, such trends will only accelerate. "I can't think of any specialty better suited for the advent of online tools than medical genetics," Francke observed. "As a professional society, we have long been concerned with the shortage of trained geneticists and counselors who can convey information to people and provide them with meaningful choices, but now the internet offers a solution."

One example of an online genetics resource that was introduced at the conference is GeneClinics (, an 18-month-old online venture based in Seattle. Supported by a grant from the US National Library of Medicine and the National Human Genome Research Institute, GeneClinics is a peer-reviewed database of inherited disease profiles aimed at genetic counselors, researchers, and informed patients. According to Patty Baskin, the site's managing editor, GeneClinics currently provides 57 disease profiles and is adding about 100 new ones a year, with an ultimate goal of 400 or so diseases. "We get about 500 hits a day and get positive response from the genetics community," Baskin said. "The only criticism is that not enough disease profiles are posted on the site yet."

Genomica, a three-year old bioinformatics company in Boulder, Colo., presented itself at the meeting as a provider of collaborative, holistic approaches to problems in genetics. Susan Strong, vice president of marketing and sales, said the firm's Discovery Manager product retrieves information from disparate and dispersed multi-investigator sites and assembles the results locally as a coherent whole. Unlike the typical sequence analysis package, Genomica's tool brings information from epidemiology, family studies, and clinical trials and folds it into sequence-based molecular information.

More than 300 slide presentations and nearly 3,000 posters summarized new genetics research at the meeting. In addition to specific disease- and patient-oriented sessions, a number of groups reported findings using DNA microarray chips and other bioinformatics techniques. For example, Carl Friddle and colleagues from Lawrence Berkeley National Laboratory are using the devices to discover genes involved in the onset and progression of cardiac hypertrophy. Christa Lese's group at the University of Chicago is developing a rapid screening telomere chip to uncover variations in telomere copy number, suspected of being at the root of up to 5 percent of cases of idiopathic retardation. Juha Kononen, of the US National Institutes of Health, has developed tissue microarrays to analyze up to 1,000 tissue specimens, with the goal of discovering new molecular markers for cancer and other diseases, which are urgently needed as new genes continue to be recorded. J Leppavuori and colleagues from the University of Helsinki, using silica-based, robotically printed DNA arrays, have identified single-nucleotide polymorphisms associated with diabetes and autoimmunity, and have discovered loci on chromosomes 2, 4, and 7 associated with degeneration of cartilage in osteoarthritis.

--Potter Wickware

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