Genetics in medicine : official journal of the American College of Medical Genetics · 2010
Validation of My Family Health Portrait for six common heritable conditions.
СтатьяResearch Support, N.I.H., IntramuralВалидационное исследованиеНазвание и аннотация: Перевод в очереди
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Facio Flavia M, Feero W Gregory, Linn Amy, Oden Neal, Manickam Kandamurugu, Biesecker Leslie G
Аннотация
PURPOSE: 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.
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.