Following the identification in a proband of a germline
BRCA1
/
BRCA2
mutation in hereditary breast-ovarian cancer (HBOC) or a DNA mismatch repair gene mutation in Lynch syndrome (LS) he or she will ...be asked to inform at-risk family members about the option for presymptomatic DNA testing. However, in clinical practice multiple factors may complicate the process of information sharing. We critically evaluated studies on the uptake of presymptomatic genetic testing in both syndromes. A search of relevant MeSH terms and key words in PubMed, Embase and PsycINFO yielded 795 articles published between 2001 and 2017. Thirty of these publications included outcome measures relevant for the current study. Based on information provided by the proband (15 studies) the uptake of presymptomatic genetic testing ranged from 15 to 57% in HBOC, while one study in LS kindreds reported an uptake of 70%. Based on information provided by genetics centres (the remaining 15 studies) the uptake ranged from 21 to 44% in HBOC and from 41 to 94% in LS. However, when genetics centres contacted relatives directly a substantial number of additional family members could be tested. Proband-mediated provision of information to at-risk relatives is a standard procedure in hereditary breast-ovarian cancer and Lynch syndrome. However, the resulting uptake of presymptomatic testing is disappointing—an issue that is now urgent due to the increased use of genetic testing in clinical oncology. We propose that additional strategies should be introduced including the geneticist directly contacting relatives. The outcomes of these strategies should be carefully monitored and evaluated.
Background. Despite the declining incidence of severe neurological complications such as HIV encephalopathy, human immunodeficiency virus (HIV) infection in children is still associated with a range ...of cognitive problems. Although most HIV-infected children in industrialized countries are immigrants with a relatively low socioeconomic status (SES), cognitive studies comparing HIV-infected children to SES–matched controls are lacking. Methods. This cross-sectional study included perinatally HIV-infected children and controls matched for age, sex, ethnicity, and SES, who completed a neuropsychological assessment evaluating intelligence, information processing speed, attention, memory, executive function, and visual-motor function. Multivariate normative comparison was used to assess the prevalence of cognitive impairment in the HIV-infected group. Multivariable regression analyses were performed to identify HIV- and combination antiretroviral therapy–related factors associated with cognitive performance. Results. In total, 35 perinatally HIV-infected children (median age, 13.8 years; median CD4 count, 770 × 106 cells/L; 83% with undetectable HIV RNA) and 37 healthy children (median age, 12.1 years) were included. HIV-infected children scored lower than the healthy controls on all cognitive domains (eg, intelligence quotient IQ, 76 standard deviation {SD}, 15.7 vs 87.5 SD, 13.6 for HIV-infected vs healthy children; P = .002). Cognitive impairment was found in 6 HIV-infected children (17%). The Centers for Disease Control and Prevention (CDC) clinical category at HIV diagnosis was inversely associated with verbal IQ (CDC clinical category C: coefficient –22.98; P = .010). Conclusions. Our results show that cognitive performance of HIV-infected children is poor compared with that of SES-matched healthy controls. Gaining insight into these cognitive deficits is essential, as subtle impairments may progress to more pronounced complications that will influence future intellectual performance, job opportunities, and community participation of HIV-infected children.
When hereditary breast and ovarian cancer (HBOC) due to a BRCA1/BRCA2 germline pathogenic variant is diagnosed, the proband will be asked to inform other at-risk family members. In the Netherlands, a ...guideline was introduced in 2012 which provided detailed recommendations regarding this proband-mediated procedure. We now evaluated the uptake of predictive BRCA1/BRCA2 testing in 40 consecutive HBOC families diagnosed in our centre in 2014. We performed a retrospective observational study of all 40 families in which a pathogenic BRCA1/BRCA2 germline variant was identified during 2014. We scored the uptake of predictive and confirmatory testing by the end of 2018 and explored factors associated with the level of uptake. Two families were excluded. In the remaining 38 families, among 239 family members ≥18 years at 50% risk of being a mutation carrier or at 25% risk if the family member at 50% risk was deceased, 102 (43%) were tested. Among 108 females 25-75 years of age at 50% risk, 59 (55%) underwent predictive or confirmatory testing, and among 43 males at 50% risk with daughters ≥18 years, 22 (51%) were tested. Factors which complicated cascade screening included family members living abroad, probands not wanting to share information and limited pedigree information. In conclusion, the standard proband-mediated procedure of informing relatives seems to be far from optimal. We suggest a tailored approach for each family, including the option of a direct approach to at-risk family members by the geneticist. In addition, we suggest detailed monitoring and follow-up of families.
Most breast cancer patients undergoing mastectomy are candidates for breast reconstruction. Deciding about breast reconstruction is complex and the preference-sensitive nature of this decision ...requires an approach of shared decision making between patient and doctor. Women considering breast reconstruction have expressed a need for decision support. We developed an online patient decision aid (pDA) to support decision making in women considering immediate breast reconstruction. The primary aim of this study is to assess the impact of the pDA in reducing decisional conflict, and more generally, on the decision-making process and the decision quality. Additionally, we will investigate the pDA's impact on health outcomes, explore predictors, and assess its cost-effectiveness.
A multicenter, two-armed randomized controlled trial (1:1) will be conducted. Women with breast cancer or ductal carcinoma in situ who will undergo a mastectomy and are eligible for immediate breast reconstruction will be invited to participate. The intervention group will receive access to the online pDA, whereas the control group will receive a widely available free information leaflet on breast reconstruction. Participants will complete online questionnaires at: baseline (T0), 1 week after consultation with a plastic surgeon (T1), and 3 (T2) and 12 months (T3) after surgery. The primary outcome is decisional conflict. Secondary outcomes include other measures reflecting the decision-making process and decision quality (e.g., decision regret), patient-reported health outcomes (e.g., satisfaction with the breasts) and costs.
This study will provide evidence about the impact of an online pDA for women who will undergo mastectomy and are deciding about breast reconstruction. It will contribute to the knowledge on how to optimally support women in making this difficult decision.
This study is retrospectively registered at ClinicalTrials.gov ( NCT03791138 ).
Purpose
The aim of this study was to develop a patient decision aid (pDA) that could support patients with breast cancer (BC) in making an informed decision about breast reconstruction (BR) after ...mastectomy.
Methods
The development included four stages: (i) Establishment of a multidisciplinary team; (ii) Needs assessment consisting of semi‐structured interviews in patients and a survey among healthcare professionals (HCPs); (iii) Creation of content, design and technical system; and (iv) Acceptability and usability testing using a think‐aloud approach in patients and interviews among HCPs and representatives of the Dutch Breast Cancer Patient Organization.
Results
From the needs assessment, three themes were identified: Challenging period to make a decision, Diverse motivations for a personal decision and Information needed to make a decision about BR. HCPs valued the development of a pDA, especially to prepare patients for consultation. The pDA that was developed contained three parts: first, a consultation sheet for oncological breast surgeons to introduce the choice; second, an online tool including an overview of reconstructive options, the pros and cons of each option, information on the consequences of each option for daily life, exercises to clarify personal values and patient stories; and third, a summary sheet with patients’ values, preferences and questions to help inform and guide the discussion between the patient and her plastic surgeon. The pDA was perceived to be informative, helpful and easy to use by patients and HCPs.
Conclusion
Consistent with information needs, a pDA was developed to support patients with BC who consider immediate BR in making an informed decision together with their plastic surgeon.
Patient or Public Contribution
Patients participated in the needs assessment and in acceptability and usability testing.
Breast cancer (BC) patients who are treated with mastectomy are frequently offered immediate breast reconstruction. This study aimed to assess decisional conflict in patients considering immediate ...breast reconstruction, and to identify factors associated with clinically significant decisional conflict (CSDC).
Baseline data of a multicenter randomized controlled trial evaluating the impact of an online decision aid for BC patients considering immediate breast reconstruction after mastectomy were analyzed. Participants completed questionnaires assessing sociodemographic and clinical characteristics, decisional conflict and other patient-reported outcomes related to decision-making such as breast reconstruction preference, knowledge, information resources used, preferred involvement in decision-making, information coping style, and anxiety. Multivariable logistic regression analysis was performed to identify factors associated with CSDC (score > 37.5 on decisional conflict).
Of the 250 participants, 68% experienced CSDC. Patients with a slight preference for breast reconstruction (odds ratio (OR) = 6.19, p < .01), with no preference for or against breast reconstruction (OR = 11.84, p < .01), and with a strong preference for no breast reconstruction (OR = 5.20, p < .05) were more likely to experience CSDC than patients with a strong preference for breast reconstruction. Furthermore, patients with more anxiety were more likely to experience CSDC (OR = 1.03, p = .01).
A majority of BC patients who consider immediate breast reconstruction after mastectomy experience clinically significant decisional conflict. The findings emphasize the need for decision support, especially for patients who do not have a strong preference for breast reconstruction.
•A majority of patients considering immediate breast reconstruction experience decisional conflict.•Patients without a strong preference for breast reconstruction are more likely to experience decisional conflict.•Patients with more anxiety are more likely to experience decisional conflict.
Combination antiretroviral therapy (cART) can alter HIV infection in children into a chronic condition. Studies investigating health-related quality of life (HRQoL) in HIV-infected children are ...scarce, and lacking from Western Europe. This study aimed to compare the HRQoL of clinically stable perinatally HIV-infected children to healthy, socioeconomically (SES)-matched controls as well as the Dutch norm population, and to explore associations between HIV and cART-related factors with HRQoL. HIV-infected and healthy children aged 8-18 years completed the Pediatric Quality of Life Inventory™ 4.0 (PedsQL™). We determined differences between groups on PedsQL™ mean scores, and the proportion of children with an impaired HRQoL per group (≥1 SD lower than the Dutch norm population). Logistic regression models were used to explore associations between disease-related factors and HRQoL impairment. In total, 33 HIV-infected and 37 healthy children were included. There were no differences in the mean PedsQL™ subscales between HIV-infected children and both control groups. The proportion of children with an impaired HRQoL was higher in the HIV-infected group (27%) as compared to the healthy control group (22%) and the Dutch norm (14%) on the school functioning subscale (HIV vs. Dutch norm: P = .045). Mean scores of HRQoL of perinatally HIV-infected children in the Netherlands were not different from a SES-matched control group, or from the Dutch norm population. However, the HIV-infected group did contain more children with HRQoL impairment, suggesting that HIV-infected children in the Netherlands are still more vulnerable to a compromised HRQoL.
Patient-reported outcomes (PROs) are increasingly considered important. We developed a web-based application to electronically assess PROs in routine dermatological practice. We assessed (1) the ...relevance of PRO measurement according to health care providers and patients, (2) the feasibility of our application in routine practice according to health care providers, supporting staff and patients, and (3) barriers/facilitators for implementation according to health care providers and supporting staff.
Health care providers, supporting staff and patients completed study-specific questionnaires. Also, website statistics were analysed.
3/6 clinics participated, including 9 professionals and 80 patients. Both health care providers and patients rated PRO measurement as relevant. However, implementation was only moderately feasible. Time constraints and logistical problems were mentioned as barriers, and motivated patients and supportive staff as facilitators.
Electronic PRO assessment in routine practice is not self-evident. Adjustments in logistics are recommended to optimize implementation, using a plan-do-study-act approach.
PDF
