Frezzo Theresa M, Rubinstein Wendy S, Dunham Daniel, Ormond Kelly E
Feinberg School of Medicine, Northwestern University, Department of Obstetrics and Gynecology, Section of Reproductive Genetics and Graduate Program in Genetic Counseling, Chicago, Illinois, USA.
Genet Med. 2003 Mar-Apr;5(2):84-91. doi: 10.1097/01.GIM.0000055197.23822.5E.
The study goals were to (1) determine the proportion of unselected individuals at increased risk for diseases with known genetic components and (2) compare the documentation and quality of risk assessment between a questionnaire, a pedigree interview, and chart review.
Seventy-eight patients seen in a division of internal medicine were randomized into two groups, which completed a questionnaire or underwent a pedigree interview. Chart notes were compared to both study tools.
Sixty-two (79.5%) of the 78 participants scored at increased risk for at least one category. Either of the two study tools found significantly more people at high risk (48/78, 61.5%) than the chart review (31/78, 39.7%) (P = 0.01).
Approximately 20% of patients in an unselected internal medicine practice were at an increased risk that was not documented in reviewed chart notes. Targeted family history analysis reveals patients who require increased medical surveillance, preventive measures, or genetic counseling/testing.
