Effort Required to Contact Primary Care Providers After Newborn Screening Identifies Sickle Cell Trait

Patient Education and Counseling

Christopher

2013

Self Cite

Objective To examine the quality of communication likely to be experienced by parents when being first informed about how newborn screening identified heterozygous “carrier” status for cystic fibrosis or sickle cell disease. Methods Primary care providers (PCPs) of infants found to have carrier status were telephoned over a 48-month period, and asked to rehearse with a standardized patient how they would inform the infants’ parent(s). 214 rehearsal transcripts were abstracted using explicit criteria methods to measure the frequency of five categories of high-quality communication behaviors. Results Overall, PCPs used large amounts of jargon and failed to use high quality communication behaviors. On average, PCPs used 18.6 total jargon words (8.7 unique words), but explained 2.4 jargon words. The most frequent assessment of understanding was the close-ended version, although it was only seen in 129 of 214 transcripts. The most common organizing behavior was importance emphasis (121/214). Precautionary empathy was rare; the most frequent behavior was “instruction about emotion” (33/214). Conclusions The limited use of high-quality communication behaviors in rehearsals raises concern about parental understanding, decision-making, and psychosocial outcomes after newborn screening. Practice Implications Measurement of specific behaviors may help PCPs to improve communication, and thereby improve the patient experience.

Section: Methodsmentioning

confidence: 99%

Frequency of high-quality communication behaviors used by primary care providers of heterozygous infants after newborn screening

Patient Education and Counseling

Christopher

2013

Self Cite

“…Furthermore, telephone intervention shows a significant 16% increase in timely sweat chloride tests at community-affiliated medical centers, even exceeding the proportion of timely sweat chloride tests at academic medical centers. Information reported by us here and elsewhere indicates that this follow-up can be done with only a small amount of additional labor and cost 16, 38 . Based on this analysis, we can recommend the use of fax plus simultaneous telephone follow-up for NBS programs that can afford this extra labor and that wish to increase the benefits of CF screening in newborns.…”

Section: Discussionmentioning

confidence: 85%

Effects of Immediate Telephone Follow-Up with Providers on Sweat Chloride Test Timing after Cystic Fibrosis Newborn Screening Identifies a Single Mutation

Pean

The Journal of Pediatrics

Eskra

et al. 2013

Self Cite

Objectives To assess whether reporting “possible cystic fibrosis (CF)” newborn screening (NBS) results via fax plus simultaneous telephone contact with primary care providers (PCPs), versus fax alone, influenced three outcomes: getting a sweat chloride test, age at sweat chloride test, and sweat-testing before 8 weeks old. Study Design Retrospective cohort comparison of infants born in Wisconsin whose PCPs received telephone intervention (n=301), versus recent historical controls whose PCP did not (n=355). Intervention data were collected during a longitudinal research and quality improvement effort; de-identified comparison data were constructed from auxiliary NBS tracking information. Parametric and nonparametric statistical analyses tested for group differences. Results Most infants (92%) with “possible CF” NBS results whose PCPs lacked telephone intervention ultimately underwent sweat-testing, underlining efficacy for fax-only reporting. Telephone intervention was significantly associated with improvements in infants undergoing sweat-testing at both ≤6 and <8 weeks and a slight, but non-significant, 3.5-day reduction in infants’ age at sweat-testing. The effect of telephone intervention was greater for PCPs whose patients underwent sweat-testing at community-affiliated medical centers versus academic medical centers (p=0.008). Conclusion Reporting “possible CF” NBS results via fax plus simultaneous telephone follow-up with PCPs increases the number of infants who have sweat chloride tests before 8 weeks of age, when affected infants are more likely to receive full benefits of early diagnosis and treatment.

“…In fact, at least one country (Norway) by law does not reveal CFTR carrier status discovered through NBS [ 4 ]. In the USA, many IF results are returned to the primary care provider who may lack sufficient time, knowledge or counseling skill [ 19 , 20 ], and may not even know the family because of inaccurate or insufficient labeling of dried blood spot specimens [ 21 , 22 ]. Therefore, parents can become anxious or confused about the implications of the results, as has been noted after NBS and other community screening programs [ 23 , 24 ].…”

Section: Introductionmentioning

confidence: 99%

Parental Preferences about Policy Options Regarding Disclosure of Incidental Genetic Findings in Newborn Screening: Using Videos and the Internet to Educate and Obtain Input

Mooney

Laxova

et al. 2022

IJNS

Our objective was to develop and test a new approach to obtaining parental policy guidance about disclosure of incidental findings of newborn screening for cystic fibrosis (CF), including heterozygote carrier status and the conditions known as CFTR-related metabolic syndrome (CRMS) and/or cystic fibrosis screen positive inconclusive diagnosis, CFSPID. The participants were parents of infants up to 6 months old recruited from maternity hospitals/clinics, parent education classes and stores selling baby products. Data were collected using an anonymous, one-time Internet-based survey. The survey introduced two scenarios using novel, animated videos. Parents were asked to rank three potential disclosure policies—Fully Informed, Parents Decide, and Withholding Information. Regarding disclosure of information about Mild X (analogous to CRMS/CFSPID), 57% of respondents ranked Parents Decide as their top choice, while another 41% ranked the Fully Informed policy first. Similarly, when considering disclosure of information about Disease X (CF) carrier status, 50% and 43% gave top rankings to the Fully Informed and Parents Decide policies, respectively. Less than 8% ranked the Withholding Information policy first in either scenario. Data from value comparisons suggested that parents believed knowing everything was very important even if they became distressed. Likewise, parents preferred autonomy even if they became distressed. However, when there might not be enough time to learn everything, parents showed a slight preference for deferring decision-making. Because most parents strongly preferred the policies of full disclosure or making the decision, rather than the withholding option for NBS results, these results can inform disclosure policies in NBS programs, especially as next-generation sequencing increases incidental findings.