• Genetic counseling after implementation of statewide cystic fibrosis newborn screening: Two years' experience in one medical center

      Wheeler, Patricia G.; Smith, Rosemarie; Dorkin, Henry L.; Parad, Richard B.; Comeau, Anne Marie; Bianchi, Diana W. (2001-11-21)
      PURPOSE: To study the follow-up of genetic counseling performed in families with a newborn detected with one cystic fibrosis (CF) mutation in a statewide newborn screening pilot program. METHODS: Newborns in Massachusetts with an elevated trypsinogen level on newborn screen who are found to have one mutation for CF on a selected mutation assay undergo sweat testing for CF, and their families receive genetic counseling. The genetic counseling focuses on carrier risk for the parents of the newborn and offers carrier testing. We studied the yield of genetic counseling and the resulting genetic testing performed on the families of infants found to be CF carriers who underwent sweat testing in a single institution. RESULTS: Of 102 newborns evaluated with a single CF mutation, 2 (twins) had sweat test results consistent with CF. A total of 101 families were counseled, and 95 were offered DNA-based CF carrier testing. Eighty-two percent of all parents chose to have CF carrier testing, and in five couples, both members were carriers. One of these couples (whose newborn was only a carrier) had an older child who was unexpectedly found to have CF. CONCLUSIONS: Sweat testing of newborns at increased risk for CF in conjunction with genetic counseling for their parents allows identification of infants with CF, finds couples at high risk for having a child with CF, identifies previously undiagnosed siblings with CF, and allows for potential identification of CF carriers in the extended family.
    • Knowledge of heart attack symptoms in a population survey in the United States: The REACT Trial. Rapid Early Action for Coronary Treatment

      Goff, David C.; Sellers, Deborah E.; McGovern, Paul G.; Meischke, Hendrika; Goldberg, Robert J.; Bittner, Vera; Hedges, Jerris R.; Allender, P. Scott; Nichaman, Milton Z. (1998-11-25)
      BACKGROUND: Greater use of thrombolysis for patients with myocardial infarction has been limited by patient delay in seeking care for heart attack symptoms. Deficiencies in knowledge of symptoms may contribute to delay and could be a target for intervention. We sought to characterize symptom knowledge. METHODS: Rapid Early Action for Coronary Treatment is a community trial designed to reduce this delay. At baseline, a random-digit dialed survey was conducted among 1294 adult respondents in the 20 study communities. Two open-ended questions were asked about heart attack symptom knowledge. RESULTS: Chest pain or discomfort was reported as a symptom by 89.7% of respondents and was thought to be the most important symptom by 56.6%. Knowledge of arm pain or numbness (67.3%), shortness of breath (50.8%), sweating (21.3%), and other heart attack symptoms was less common. The median number of correct symptoms reported was 3 (of 11). In a multivariable-adjusted model, significantly higher mean numbers of correct symptoms were reported by non-Hispanic whites than by other racial or ethnic groups, by middle-aged persons than by older and younger persons, by persons with higher socioeconomic status than by those with lower, and by persons with previous experience with heart attack than by those without. CONCLUSIONS: Knowledge of chest pain as an important heart attack symptom is high and relatively uniform; however, knowledge of the complex constellation of heart attack symptoms is deficient in the US population, especially in low socioeconomic and racial or ethnic minority groups. Efforts to reduce delay in seeking medical care among persons with heart attack symptoms should address these deficiencies in knowledge.
    • Sensitivity and specificity of recalled vasomotor symptoms in a multiethnic cohort

      Crawford, Sybil L.; Avis, Nancy E.; Gold, Ellen B.; Johnston, Janet M.; Kelsey, Jennifer L.; Santoro, Nanette; Sowers, Mary Fran R.; Sternfeld, Barbara (2008-12-15)
      Many epidemiologic studies include symptom checklists assessing recall of symptoms over a specified time period. Little research exists regarding the congruence of short-term symptom recall with daily self-reporting. The authors assessed the sensitivity and specificity of retrospective reporting of vasomotor symptoms using data from 567 participants in the Study of Women's Health Across the Nation (1997-2002). Daily assessments were considered the "gold standard" for comparison with retrospective vasomotor symptom reporting. Logistic regression was used to identify predictors of sensitivity and specificity for retrospective reporting of any vasomotor symptoms versus none in the past 2 weeks. Sensitivity and specificity were relatively constant over a 3-year period. Sensitivity ranged from 78% to 84% and specificity from 85% to 89%. Sensitivity was lower among women with fewer symptomatic days in the daily assessments and higher among women reporting vasomotor symptoms in the daily assessment on the day of retrospective reporting. Specificity was negatively associated with general symptom awareness and past smoking and was positively associated with routine physical activity and Japanese ethnicity. Because many investigators rely on symptom recall, it is important to evaluate reporting accuracy, which was relatively high for vasomotor symptoms in this study. The approach presented here would be useful for examining other symptoms or behaviors.