Related Experiment Video
Updated: Aug 14, 2026
FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Initially misleading communication of carrier results after newborn genetic screening
Alison La Pean1, Michael H Farrell
1Neurogenetics Branch, National Institutes of Health/National Institute of Neurological Disorders and Stroke, Bethesda, Maryland, USA.
Insights
Newborn screening communication often misleads parents about their infant's carrier status for conditions like sickle cell hemoglobinopathy (SCH) and cystic fibrosis (CF). Improving how results are delivered is crucial for parental understanding and adherence to care.
Area of Science:
- Medical Genetics
- Pediatric Screening
- Communication in Healthcare
Background:
- Newborn screening is vital for early detection of genetic disorders, but effective communication of results significantly impacts parental understanding and treatment adherence.
- Initial communication of positive screening results, particularly for carrier status of sickle cell hemoglobinopathy (SCH) and cystic fibrosis (CF), is critical for avoiding psychosocial distress.
- This study defines and investigates 'initially misleading' communication, characterized by the premature delivery of negative information before positive or neutral findings.
Purpose of the Study:
- To determine the prevalence of initially misleading communication in counseling sessions following newborn genetic screening for SCH and CF.
- To analyze the nature and extent of misleading statements and the time delay before clarification of results.
Main Methods:
- A quantitative, explicit-criteria method was employed to analyze 59 transcribed counseling conversations between pediatric residents and standardized parents.
- Transcripts were evaluated for the presence and order of 'bad-news' and 'good-news' content items related to infant carrier status.
Main Results:
- A high prevalence of initially misleading communication was observed, with 41 out of 59 (69.5%) transcripts containing negative statements before positive or neutral ones.
- Misleading communication was significantly more common in likely cystic fibrosis (CF) carrier cases (89.7%) compared to sickle cell hemoglobinopathy (SCH) carrier cases (50%).
- On average, misleading transcripts contained 5.5 misleading statements, with a significant delay of 28.1 statements before the first good-news statement was delivered.
Conclusions:
- The high frequency of misleading communication and delayed clarification poses a significant barrier to parental comprehension of infant carrier status.
- Enhancements in training curricula for healthcare providers and robust quality assurance measures are essential to improve parental understanding and public confidence in genetic screening.
- Addressing communication deficits is paramount for optimizing outcomes in newborn screening programs and alleviating parental anxiety.
Background:
Newborn screening saves lives, but the way in which parents learn of a positive screening test is also important for adherence with treatment plans and avoidance of psychosocial complications. The first messages provided to parents may be particularly important for understanding, especially when the infant is found to be a heterozygous carrier for sickle cell hemoglobinopathy (SCH) or cystic fibrosis (CF). This study investigated the prevalence of "initially misleading" communication, defined as the inclusion of 1 of 55 "bad-news" content items (eg, the screening test is positive) before any of 39 "good-news" content items (eg, the infant is healthy, normal, a carrier, or otherwise without problems).
Methods:
As part of a larger study of the content of counseling after newborn genetic screening, we used a quantitative, explicit-criteria method to abstract 59 transcribed conversations between pediatric residents and standardized parents of an "infant" who was found through newborn screening to carry either CF or SCH.
Results:
Of 59 transcripts, 41 were found to be misleading (at least 1 bad-news content statement before the first good-news content statement). There were significantly more misleading likely-CF-carrier than SCH-carrier transcripts (89.7% vs 50%). Among the misleading transcripts, the mean number of misleading statements was 5.5. The mean distance between the first bad-news and first good-news statements was 28.1 statements (20.5% of the total duration of counseling).
Discussion:
The high prevalence of misleading content and the time lag before clarification does not bode well for parental understanding of infant carrier status. Future projects should improve curricula for training programs and develop quality-assurance efforts for community clinicians both to improve parental understanding and help assuage society's fears about the safety of genetic screening technologies.
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