Primary care providers' role in newborn screening result notification for cystic fibrosis.

OBJECTIVE: To explore primary care providers' (PCPs') role in result notification for newborn screening (NBS) for cystic fibrosis (CF), given that expanded NBS has increased the number of positive screening test results, drawing attention to the role of PCPs in supporting families. DESIGN: Cross-sectional survey and qualitative interviews. SETTING: Ontario. PARTICIPANTS: Primary care providers (FPs, pediatricians, and midwives) who received a positive CF NBS result for an infant in their practice in the 6 months before the study. MAIN OUTCOME MEASURES: Whether the PCP notified the family of the initial positive CF screening result. RESULTS: Data from 321 PCP surveys (response rate of 51%) are reported, including 208 FPs, 68 pediatricians, and 45 midwives. Interviews were completed with 34 PCPs. Most (65%) surveyed PCPs reported notifying the infant's family of the initial positive screening result; 81% agreed that they have an important role to play in NBS; and 88% said it was important for PCPs, rather than the NBS centre, to notify families of initial positive results. With support and information from NBS centres, 68% would be extremely or very confident in doing so; this dropped to 54% when reflecting on their recent reporting experience. More than half (58%) of all PCPs said written point-of-care information from the NBS centre was the most helpful format. Adjusted for relevant factors, written educational information was associated with a lower rate of notifying families than written plus verbal information (risk ratio of 0.79; 95% CI 0.69 to 0.92). In the interviews, PCPs emphasized the challenge of balancing required content knowledge with the desire for the news to come from a familiar provider. CONCLUSION: Most PCPs notify families of NBS results and value this role. These data are relevant as NBS programs and other genomic services expand and consider ways of keeping PCPs confident and actively involved.

Newborn screening for cystic fibrosis: Role of primary care providers in caring for infants with positive screening results.

OBJECTIVE: To explore primary care providers' (PCPs') preferred roles and confidence in caring for infants receiving a positive cystic fibrosis (CF) newborn screening (NBS) result, as well as management of CF family planning issues, given that expanded NBS has resulted in an increase in positive results. DESIGN: Mailed questionnaire. SETTING: Ontario. PARTICIPANTS: Ontario FPs, pediatricians, and midwives identified by Newborn Screening Ontario as having had an infant with a positive CF NBS result in their practice in the previous 6 months. MAIN OUTCOME MEASURE: Primary care providers' preferred roles in providing well-baby care for infants with positive CF screening results. RESULTS: Overall, 321 of 628 (51%) completed surveys (208 FPs, 68 pediatricians, 45 midwives). For well-baby care for infants confirmed to have CF, 77% of PCPs indicated they would not provide total care (ie, 68% would share care with other specialists and 9% would refer to specialists completely); for infants with an inconclusive CF diagnosis, 50% of PCPs would provide total care, 45% would provide shared care, and 5% would refer to a specialist; for CF carriers, 89% of PCPs would provide total care, 9% would provide shared care, and 2% would refer. Half (54%) of PCPs were extremely or very confident in providing reassurance about CF carriers' health. Only 25% knew how to order parents' CF carrier testing; 67% knew how to refer for prenatal diagnosis. Confidence in reassuring parents about the health of CF carrier children was associated with providing total well-baby care for CF carriers (risk ratio of 1.50; 95% CI 1.14 to 1.97) and infants with an inconclusive diagnosis (risk ratio of 3.30; 95% CI 1.34 to 8.16). CONCLUSION: Most PCPs indicated willingness to treat infants with a range of CF NBS results in some capacity. It is concerning that some indicated CF carriers should have specialist involvement and only half were extremely or very confident about reassuring families about carrier status. This raises issues about possible medicalization of those with carrier status, prompting the need for PCP education about genetic disorders and the meaning of genetic test results.

What's Involved with Wanting to Be Involved? Comparing Expectations for Public Engagement in Health Policy across Research and Care Contexts.

OBJECTIVES: We explored public preferences for involvement in health policy decisions, across the contexts of medical research and healthcare. APPROACH: We e-surveyed a sample of Canadians, categorizing respondents by preferences for decision control: (1) more authority; (2) more input; (3) status quo. Two generalized ordered logistic regressions assessed influences on preferences. RESULTS: The participation rate was 94%; 1,102 completed responses met quality criteria. The dominant preference was for more input (average = 52.0%), followed by status quo (average = 24.9%) and more authority (average = 21.1%), though preferences for more control were higher in healthcare (57.2%) than medical research (46.8%). Preferences for greater control were associated with constructs related to reduced trust in healthcare systems. CONCLUSION: The public expects health policy to account for public views, but not base decisions primarily on these views. More involvement was expected in healthcare than medical research policy. As opportunities for public involvement in health research grow, we anticipate increased desired involvement.

Psychosocial Response to Uncertain Newborn Screening Results for Cystic Fibrosis.

OBJECTIVE: To explore the psychosocial implications of diagnostic uncertainty that result from inconclusive results generated by newborn bloodspot screening (NBS) for cystic fibrosis (CF). STUDY DESIGN: Using a mixed methods prospective cohort study of children who received NBS for CF, we compared psychosocial outcomes of parents whose children who received persistently inconclusive results with those whose children received true positive or screen-negative results. RESULTS: Mothers of infants who received inconclusive results (n = 17), diagnoses of CF (n = 15), and screen-negative results (n = 411) were surveyed; 23 parent interviews were completed. Compared with mothers of infants with true positive/screen-negative results, mothers of infants with inconclusive results reported greater perceived uncertainty (P < .006) but no differences in anxiety or vulnerability (P > .05). Qualitatively, parents valued being connected to experts but struggled with the meaning of an uncertain diagnosis, worried about their infant's health-related vulnerability, and had mixed views about surveillance. CONCLUSION: Inconclusive CF NBS results were not associated with anxiety or vulnerability but led to health-related uncertainty and qualitative concerns. Findings should be considered alongside efforts to optimize protocols for CF screening and surveillance. Educational and psychosocial supports are warranted for these families.

A secondary benefit: the reproductive impact of carrier results from newborn screening for cystic fibrosis.

PURPOSE: Newborn screening (NBS) for cystic fibrosis (CF) can identify carriers, which is considered a benefit that enables reproductive planning. We examined the reproductive impact of carrier result disclosure of NBS for CF. METHODS: We surveyed mothers of carrier infants after NBS (Time 1) and 1 year later (Time 2) to ascertain intended and reported communication of their infants' carrier results to relatives, carrier testing for themselves/other children, and reproductive decisions. A sub-sample of mothers was also interviewed at Time 1 and Time 2. RESULTS: The response rate was 54%. A little more than half (55%) of mothers underwent carrier testing at Time 1; another 40% of those who intended to undergo testing at Time 1 underwent testing at Time 2. Carrier result communication to relatives was high (92%), but a majority of participants did not expect the results to influence family planning (65%). All interviewed mothers valued learning their infants' carrier results. Some underwent carrier testing and then shared results with family. Others did not use the results or used them in unintended ways. CONCLUSION: Although mothers valued learning carrier results from NBS, they reported moderate uptake of carrier testing and limited influence on family planning. Our study highlights the secondary nature of the benefit of disclosing carrier results of NBS.Genet Med 19 4, 403-411.

Parent Experience With False-Positive Newborn Screening Results for Cystic Fibrosis.

BACKGROUND: The risk of psychosocial harm in families of infants with false-positive (FP) newborn bloodspot screening (NBS) results for cystic fibrosis (CF) is a longstanding concern. Whether well designed retrieval and confirmatory testing systems can mitigate risks remains unknown. METHODS: Using a mixed-methods cohort design, we obtained prospective self-report data from mothers of infants with FP CF NBS results 2 to 3 months after confirmatory testing at Ontario's largest follow-up center, and from a randomly selected control sample of mothers of screen negative infants from the same region. Mothers completed a questionnaire assessing experience and psychosocial response. A sample of mothers of FP infants completed qualitative interviews. RESULTS: One hundred thirty-four mothers of FP infants (response rate, 55%) and 411 controls (response rate, 47%) completed questionnaires; 54 mothers of FP infants were interviewed. Selected psychosocial response measures did not detect psychosocial distress in newborns or 1 year later (P > .05). Mothers recalled distress during notification of the positive result and in the follow-up testing period related to fear of chronic illness, but valued the screening system of care in mitigating concerns. CONCLUSIONS: Although immediate distress was reported among mothers of FP infants, selected psychometric tools did not detect these concerns. The NBS center from which mothers were recruited minimizes delay between notification and confirmatory testing and ensures trained professionals are communicating results and facilitating follow-up. These factors may explain the presence of minimal psychosocial burden. The screening system reflected herein may be a model for NBS programs working to minimize FP-related psychosocial harm.

Using Newborn Screening Bloodspots for Research: Public Preferences for Policy Options.

OBJECTIVES: Retaining residual newborn screening (NBS) bloodspots for medical research remains contentious. To inform this debate, we sought to understand public preferences for, and reasons for preferring, alternative policy options. METHODS: We assessed preferences among 4 policy options for research use of residual bloodspots through a bilingual national Internet survey of a representative sample of Canadians. Fifty percent of respondents were randomly assigned to select reasons supporting these preferences. Understanding of and attitudes toward screening and research concepts, and demographics were assessed. RESULTS: Of 1102 respondents (94% participation rate; 47% completion rate), the overall preference among policy options was ask permission (67%); this option was also the most acceptable choice (80%). Assume permission was acceptable to 46%, no permission required was acceptable to 29%, and no research allowed was acceptable to 26%. The acceptability of the ask permission option was reduced among participants assigned to the reasoning exercise (84% vs 76%; P = .004). Compared with assume/no permission required, ordered logistic regression showed a significant reduction in preference for the ask permission option with greater understanding of concepts (odds ratio, 0.87; P < .001), greater confidence in science (odds ratio, 0.16; P < .001), and a perceived responsibility to contribute to research (odds ratio, 0.39; P < .001). CONCLUSIONS: Surveyed Canadians prefer that explicit permission is sought for storage and research use of NBS bloodspots. This preference was diminished when reasons supporting and opposing routine storage, and other policy options, were presented. Findings warrant consideration as NBS communities strategize to respond to shifting legislative contexts.

Public Perceptions of the Benefits and Risks of Newborn Screening.

BACKGROUND: Growing technological capacity and parent and professional advocacy highlight the need to understand public expectations of newborn population screening. METHODS: We administered a bilingual (French, English) Internet survey to a demographically proportional sample of Canadians in 2013 to assess preferences for the types of diseases to be screened for in newborns by using a discrete choice experiment. Attributes were: clinical benefits of improved health, earlier time to diagnosis, reproductive risk information, false-positive (FP) results, and overdiagnosed infants. Survey data were analyzed with a mixed logit model to assess preferences and trade-offs among attributes, interaction between attributes, and preference heterogeneity. RESULTS: On average, respondents were favorable toward screening. Clinical benefits were the most important outcome; reproductive risk information and early diagnosis were also valued, although 8% disvalued early diagnosis, and reproductive risk information was least important. All respondents preferred to avoid FP results and overdiagnosis but were willing to accept these to achieve moderate clinical benefit, accepting higher rates of harms to achieve significant benefit. Several 2-way interactions between attributes were statistically significant: respondents were willing to accept a higher FP rate for significant clinical benefit but preferred a lower rate for moderate benefit; similarly, respondents valued early diagnosis more when associated with significant rather than moderate clinical benefit. CONCLUSIONS: Members of the public prioritized clinical benefits for affected infants and preferred to minimize harms. These findings suggest support for newborn screening policies prioritizing clinical benefits over solely informational benefits, coupled with concerted efforts to avoid or minimize harms.

Examining predictors of physical activity among inactive middle-aged women: an application of the health action process approach.

This study tested several relationships predicted by the Health Action Process Approach (HAPA) in a sample of 175 generally healthy, inactive, middle-aged women (40-65 yrs old) over a 12 week period. Participants' physical activity, risk perceptions, outcome expectancies, action self-efficacy and intention were measured at baseline. Planning and maintenance self-efficacy were measured 4 weeks later. Physical activity behaviour was measured 12 weeks after baseline. The HAPA relationships were examined using a structural equation model. The data fit the model well and revealed several significant relationships. Action self-efficacy was the best predictor of intention. Maintenance self-efficacy was the best predictor of planning and behaviour. Contrary to the tenets of HAPA and to past research, planning did not predict behaviour. Overall, HAPA provides a useful framework for identifying determinants of physical activity intentions and behaviour within a group of inactive, middle-aged women.

An investigation of the theoretical content of physical activity brochures.

New evidence-based physical activity guidelines and recommendations for constructing messages supplementing the guidelines have been put forth. As well, recent reviewshave identified theoretical constructs that hold promise as targets for intervention: self-regulation, outcome expectancies and self-efficacy. The purpose of this study was to examine the integration of messages targeting self-regulation, self-efficacy and outcome expectancies in existing physical activity brochures. Twenty-two PA brochures from Canadian and American National Health Organizations were assessed for their use self-efficacy, self-regulatory processes and outcome expectancies. Brochures were analyzed line-by-line using a modified version of the validated Content Analysis Approach to Theory-Specified Persuasive Educational Communication (CAATSPEC; Abraham et al., 2007). One third of the brochures were coded by two independent raters coded a third of the brochures (n = 7). Inter-rater reliability was acceptable for 17 of the 20 categories (rs> .79). Discrepancies in all categories were discussed and agreement was reached. The remaining brochures were coded by one of the two raters. Usage of thethree key theoretical constructs accounted for only 36.43% of brochure content (20.23% self-efficacy, 10.40% outcome expectancies, 5.80% self-regulation). Brochures lacked the use of a variety of theoretical strategies, specifically goal-setting, planning and verbal persuasion and rarely highlighted the affective benefits of physical activity. In the future brochures should aim to place increased emphasis on self-regulation, self-efficacy, and affective outcome expectancies.

Exercise as stigma management for individuals with onset-controllable and onset-uncontrollable spinal cord injury.

UNLABELLED: Studies have suggested that individuals with physical disabilities are often stigmatized and are perceived to possess less favorable physical and psychological characteristics than individuals without disability. PURPOSE: To investigate whether able-bodied adults' perceptions of people with different causes of spinal cord injury (SCI) are influenced by physical activity status information. METHOD AND PARTICIPANTS: Each participant (N = 198) read all five vignettes describing individuals with SCI who had varying levels of physical activity participation and cause of injury information (e.g., onset-uncontrollable [hit by impaired driver] and onset-controllable [caused by impaired driving]). After reading each vignette, participants completed a 12-item Warmth and Competence Questionnaire to evaluate each target. One-way repeated measures multivariate analyses of variance were conducted to examine the within-subjects differences. RESULTS: Physically active individuals with onset-uncontrollable SCI were rated most favorably on warmth and competence. Physically active individuals with onset-controllable SCI also were rated more favorably on warmth and competence than physically inactive targets with onset-controllable SCI. CONCLUSION: A physically active lifestyle may be beneficial in managing the stigma experienced by individuals with both onset-controllable and onset-uncontrollable SCI.