To assess the ability of My Family Health Portrait (MFHP) to accurately collect family history for six common heritable disorders.
Family history is useful to assess disease risk, but is not widely used. We compared the pedigree from MFHP, an online tool for collection of family history, to a pedigree supplemented by a genetics professional.
150 volunteers collected their family histories using MFHP. A genetic counselor interviewed the volunteers to validate the entries and add diagnoses, as needed. The content and the affection assignments of the pedigrees were compared. The pedigrees were entered into Family Healthware™ to assess risks for the diseases.
The sensitivity of MFHP varied among the 6 diseases (67–100%) compared to the supplemented pedigree. The specificities ranged from 92–100%. When the pedigrees were used to generate risk scores, MFHP yielded identical risks to the supplemented pedigree for 94–99% of the volunteers for diabetes and colon, breast, and ovarian cancer. The agreement was lower for coronary artery disease (68%) and stroke (83%).
These data support the validity of MFHP pedigrees for four common conditions – diabetes and colon, breast, and ovarian cancer. The tool performed less well for coronary artery disease and stroke. We recommend that the tool be improved to better capture information for these two common conditions.