Validation of My Family Health Portrait for six common heritable conditions.
OBJECTIVE
To assess the ability of My Family Health Portrait to accurately collect family history for six common heritable disorders.


BACKGROUND
Family history is useful to assess disease risk but is not widely used. We compared the pedigree from My Family Health Portrait, an online tool for collection of family history, to a pedigree supplemented by a genetics professional.


METHODS
One hundred fifty volunteers collected their family histories using My Family Health Portrait. 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.


RESULTS
The sensitivity of My Family Health Portrait varied among the six diseases (67-100%) compared to the supplemented pedigree. The specificities ranged from 92 to 100%. When the pedigrees were used to generate risk scores, My Family Health Portrait 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%).


CONCLUSIONS
These data support the validity of My Family Health Portrait 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.
Facio
Flavia M
FM
National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA. ffacio@mail.nih.gov
Feero
W Gregory
WG
Linn
Amy
A
Oden
Neal
N
Manickam
Kandamurugu
K
Biesecker
Leslie G
LG
D000368:Aged; D003327:Coronary Disease / Q000235:genetics*; D003920:Diabetes Mellitus / Q000235:genetics*; D005192:Family Health; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008487:Medical History Taking; D008875:Middle Aged; D009369:Neoplasms / Q000235:genetics*; D010375:Pedigree