Frank Giardiello, Ph.D.
In the Spotlight

Dr. Giardiello is Division Director of Gastroenterology/Hepatology, Johns Hopkins School of Medicine, and Director of the Johns Hopkins Hereditary Colorectal Cancer and Polyposis Clinic and Registry.

What have been the major accomplishments in cancer and genetics this year?

One accomplishment that will have a major impact on patients is the discovery of Conversion technology. The accuracy of all genetic testing should improve by using Conversion as the first step. Conversion takes gene alleles and separates them so that testing is done on the individual alleles, thereby substantially increasing the accuracy of genetic testing.

For example, in gene testing for Familial Adenomatous Polyposis, the accuracy is 80% without Conversion, which means that you can find a mutation 80% of the time in an affected patient. With Conversion, accuracy increases to about 97%. Therefore, Conversion is a major accomplishment in our ability to test.

How has this accomplishment impacted you as a physician and your patients?

The thrust of Conversion is accuracy, which impacts patient care with regard to genetic testing and counseling. Patients really only come once to understand their cancer risk. So it is important to use technology to obtain accurate test results. In the past, you were not able to give definitive test results. Now, Conversion will greatly enhance our ability to give a patient a definitive test result.

What do you think the priorities should be for cancer and genetics research in 2001?

The first priority should be finding subgroups of patients at high risk to apply the most logical screening methods. In other words, tailor screening so that people with inherited predisposition for cancer will get more intensive screening, while people with the average population risk get only necessary screening. This is cost effective for society.

The second priority should be continuing to understand how genetics impacts drug treatment of cancer. This is a new and emerging area: genotyping patients' cancers and finding which drugs are most effective for their tumor profile.

Finally, we should continue to investigate the use of genetics in screening tests not just for germline testing, but utilizing other genetic markers in, for example, stool to find cancer in the GI tract, or saliva to detect recurrence of head and neck cancer.

What kind of role would you like to see MACGN play in promoting cancer and genetics research in 2001?

MACGN has an important role in the general education of patients in the field of genetics. MACGN can gather subsets of patients with genetic abnormalities who can be recruited into research protocols and informed of on-going studies. MACGN can also help physicians clarify their role with regard to emerging genetic concepts and technologies.