Pathologists Discuss State of Genetic Testing at World Congress of Pathology

Dateline: Sydney, Australia- New-fangled technology is making genetic testing and molecular diagnostics ever more precise tools to aid clinicians, but at least two internationally-respected experts in genetics still consider family history to be a primary-if not the most useful-source of knowledge about a patient’s genetic risk factors. Both experts were in Sydney, Australia, to speak at the XXV World Congress of Pathology which took place on March 13-15, 2009.

“Family history remains the most valuable genetic test available to us today,” declared Michael S. Watson, Ph.D., Executive Director of the American College of Medical Genetics in Rockville, Maryland, in his presentation titled “Translation of Genetic Information into Healthcare Use.” He discussed the importance of building a multi-dimensional health record that included family history and would follow the patient from cradle to grave.

Watson spoke last Friday at the XXV World Congress of Pathology and Laboratory Medicine, produced by World Association of Societies of Pathology and Laboratory Medicine. This year’s biannual event was co-hosted by the Royal College of Pathologists in Australasia. Your Dark Daily Editor, Robert L. Michel, was there to speak as part of this special session.

Watson also recognized the rapid increase in the number of genetic tests. “For inheritable disease, there are currently as many as 5,000 genetic tests for rare diseases and susceptibility to disease,” he noted. “Probably 1,500 genes are known to have specific roles in inheritable diseases.” New genetic knowledge is quickly translated into diagnostic tests, according to Watson, who said “today, when a gene for a rare Mendelian disease is identified, it almost immediately becomes a diagnostic test!”

To demonstrate the effectiveness of family history as a genetic tool, the next presentation in this special session, titled “Laboratory Medicine’s Transformational Role in the Genomic Age” was a detailed look at how family history records are used to understand genetic risk by physicians and researchers in Iceland. Jón J. Jónsson, M.D., Ph.D., Chief of Department, Department of Genetics and Molecular Medicine at the University of Iceland in Reykjavik, during his presentation at this same session, observed that Iceland has a unique resource probably unique in the world. Iceland has good genealogical records that start in 1000 A.D. And, reaching back as far as 200 years, more detailed information about cause of death and other health statistics have been gathered. Of particular note is a cancer database that was established in the 1950s.

Jónsson explained how his work utilizes family pedigrees and genealogy to understand how genetics plays a role in the diseases of individual patients. “To develop this type of profile for an individual, it is possible to consult Iceland’s genealogy data base and create a genealogy for this individual,” he explained. “Next, this genealogy can be run against the national cancer registry. Because of these rich data bases, it is possible to quickly create a family pedigree that numbers from several hundred to more than 1,000 descendants. Within a pedigree assembled in this fashion, patterns of certain cancers can be clearly seen.

Jónsson concurred with Watson in his view that family history is a key diagnostic tool in assessing genetic risk. He reminded the audience that, “in genetics, the family is often the patient,” referring to the fact that, where cancer and other diseases run in the family, the healthcare system needs to address the other members of the family, not just the one patient who is undergoing evaluation and treatment. Both Jónsson and Watson remind us that family history still plays an important role, even as healthcare advances further down the road toward the genetic age and realization of the concept of personalized medicine.

Here in Sydney, Australia, a record crowd of 1,300 pathologists gathered to participate at the XXV World Congress of Pathology and Laboratory Medicine. In spite of troubled economic times, the strong attendance reflects the rapid advances taking place in pathology and laboratory medicine and the need for pathologists to stay current with the latest innovations and new clinical services.