A survey of lifestyle habits, physician counseling, and direct-to consumer genetic testing in patients with hereditary hemochromatosis - 20/04/21
, Hassan M. Ghoz a , Fernando F. Stancampiano b , Katie Nordelo c , William C. Palmer a, ⁎ Benvenuto su EM|consulte, il riferimento dei professionisti della salute.
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Highlights |
• | This is a survey study of patients with hereditary hemochromatosis. |
• | Lifestyle habits which increase iron stores are common in these patients. |
• | These include alcohol, red meat, and vitamin C consumption. |
• | Some patients are not counseled on screening their 1st degree relatives. |
• | Direct-to-consumer genetic testing is common in these patients. |
Abstract |
Introduction and objectives |
The goal of this study was to assess lifestyle habits and physician counseling of patients with hereditary hemochromatosis (HH), and determine the prevalence of direct-to-consumer (DTC) genetic testing.
Materials and methods |
A 52-question survey was created to collect information on lifestyle habits and physician counseling among patients with HH, and the use of DTC genetic testing of patients referred to a clinic for evaluation of HH. A multivariate logistic regression model was applied to identify predictors of DTC genetic testing use.
Results |
The survey was e-mailed to 379 patients, of which 101 responded (26.6%). Among patients with HH, 37% reported alcohol use more than once weekly and 50% reported red meat consumption. The use of a vitamin C supplement was reported by 38.9% of participants. Among patients with living children and siblings, physicians failed to recommend HH screening 15.3% and 21.2% of the time respectively. Thirty-one patients reported DTC genetic testing, of which 46.7% (14/31) reported their DTC genetic test screened for HH. Six (19%) of those patients were prompted to see a specialist in HH based on the results.
Conclusions |
Among patients with HH, lifestyle habits that may impact iron stores are common, but not all receive appropriate counseling. Direct-to-consumer genetic testing is common, and physicians should be aware of its limitations when patients seek further evaluation for HH based on their test results.
Il testo completo di questo articolo è disponibile in PDF.Abbreviations : HH, DTC
Keywords : Hereditary hemochromatosis, Surveys and questionnaires, Genetic testing
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Vol 45 - N° 2
Articolo 101658- Marzo 2021 Ritorno al numero
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