The impact of an interventional counselling procedure in families with a BRCA1/2 gene mutation : efficacy and safety

Background: Predictive genetic testing has high impact on cancer prevention for BRCA carriers and passing this information in BRCA families is important. Mostly, this is proband-mediated but this path is defective and denies relatives lifesaving information. Objective: To assess the efficacy/safety of an intervention, in which relatives are actively informed. Design: Sequential prospective study in new BRCA families. The proband informed relatives about predictive testing (phase I). After 6 months, a letter was sent to adult relatives who had not been reached (phase II). Then a phone call was made to obtain a final notion of their wishes. All subjects received psychometric testing (State-Trait Anxiety Inventory, STAI), an interview and routine counselling. Results: Twenty families were included. Twenty-four of the relatives could not be reached, 59 were 'decliners', 47 participated by the proband and 42 by the letter. Predictive testing was performed in 98 % of the participants of which 30 were mutation carriers. The intervention is psychologically safe: the 95 % CI for the estimated mean difference in STAI DY1 between phase II/I subjects (mean difference -1.07, 95 % CI -4.4 to 2.35, p = 0.53) shows that the mean STAI DY1 score (measured at first consult) for phase II is no more than 2.35 units higher than for phase I, which is not relevant. Conclusions: A protocol directly informing relatives nearly doubles the number of relatives tested and is psychologically safe. This should lead to a change in counselling guidelines in families with a strong germline predisposition for cancer

Upper respiratory tract symptoms and salivary immunoglobulin A of elite female gymnasts : a full year longitudinal field study

The aim of this study was to determine the frequency of upper respiratory tract symptoms (URS) in elite female gymnasts during a training season. In addition, we aimed to observe the extent to which salivary immunoglobulin A (sIgA) is associated with URS in these athletes, including potential effects of the season and timing of sample collection. Over one year, 18 elite female gymnasts completed URS and fatigue questionnaires weekly and provided 1 mL of saliva after a minimum 36 h of rest (morning or afternoon) to measure relative sIgA concentration (= mean absolute sIgA value of the week divided by the mean absolute sIgA value of the weeks without URS). Mean weekly URS and mean relative sIgA values per gymnast correlated negatively (r = -0.606, P = 0.022). Most URS were noted in the most fatigued gymnasts (7.4 ± 10.1 vs. 2.5 ± 5.6 (P < 0.001) for ‘normal’ and 2.1 ± 3.7 (P = 0.001) for ‘better than normal’ rested). In spring, relative sIgA was higher compared to autumn (112 ± 55 vs. 89 ± 41%, P < 0.001) and winter (92 ± 35%, P = 0.001), while during summer, relative sIgA appeared higher compared to autumn (110 ± 55 vs. 89 ± 41%, P = 0.016). The interaction effect with timing of sample collection showed higher relative sIgA values in morning samples in spring and summer compared to afternoon samples, with the inverse observed in autumn and winter (F = 3.565, P = 0.014). During a gymnastics season, lower relative sIgA values were linked to higher susceptibility to URS in elite gymnasts. However, relative sIgA values were influenced by season and timing of sample collection and thus should be considered when interpreting sIgA data