On the basis of the SORT taxonomy (see definitions at the end of the "Major Recommendations" field) as applied in this report, the evidence of health benefits merits a B-level recommendation for newborn screening for cystic fibrosis (CF).
The magnitude of the health benefits from screening for CF is sufficient that states should consider including routine newborn screening for CF in conjunction with systems to ensure access to high-quality care.
- In reaching a decision as to whether to add newborn screening for CF, states should consider available state resources and priorities as well as available national guidelines regarding CF screening, diagnosis, and treatment.
- States that implement newborn screening for CF should collect follow-up data in collaboration with CF care centers and analyze this information to monitor and improve the quality of CF newborn screening. In particular, states should collect, share, and analyze data by using standard protocols to evaluate and optimize laboratory algorithms used to screen for CF and refer for diagnosis. States seeking guidance on optimal laboratory protocols might wish to consult with states having more experience in conducting CF screening of newborns.
- Newborn screening for CF should be accompanied by rigorous infection control practices to minimize the risk to children with CF detected at an early age of acquiring infectious organisms associated with lung disease from older patients. Further research is needed to evaluate and optimize these practices.
- Newborn screening systems should ensure parental and provider education and communication of screening results to primary-care providers in a manner that will ensure prompt referral to diagnostic centers. For CF, these should be centers skilled in providing both sweat tests to young, presymptomatic children with CF and accurate and effective counseling to families, including those with infants identified as carriers. States are recommended to work with each other and with professional organizations and federal agencies to develop approaches to provide newborn screening information to parents during the prenatal and perinatal periods on all conditions, including CF, to facilitate informed choices and appropriate responses to positive screen results.
Definitions
Rating Scheme for Strength of Recommendations
Level A: Recommendation based on consistent and good-quality patient-oriented evidence*
Level B: Recommendation based on inconsistent or limited-quality patient-oriented evidence
Level C: Recommendation based on consensus, usual practice, opinion, disease-oriented evidence,** and case series for studies of diagnosis, treatment, prevention, or screening
* Measures outcomes that matter to patients: morbidity, mortality, symptom improvement, cost reduction, or quality of life.
** Measures intermediate, physiologic, or surrogate endpoints that might reflect improvements in patient outcomes (e.g., blood pressure, blood chemistry, physiologic function, and pathologic findings)
Rating Scheme for the Strength of the Evidence
| |
Type of Study |
| Study quality |
Diagnosis |
Treatment/Prevention/
Screening |
Prognosis |
Level 1: high-quality patient-oriented evidence |
- Validated clinical decision rule
- Systematic review (SR)/ meta-analysis of high quality studies
- High-quality diagnostic cohort study1
|
- SR/meta-analysis of randomized control trials (RCTs) with consistent findings
- High-quality individual RCT2
- All or none study3
|
- SR/meta-analysis of high-quality cohort studies
- Prospective cohort study with good follow-up
|
|
Level 2: limited-quality patient-oriented evidence |
- Unvalidated clinical decision rule
- SR/meta-analysis of lower quality studies or studies with inconsistent findings
- Lower-quality diagnostic cohort study or diagnostic case-control study
|
- SR/meta-analysis of lower quality clinical trials or studies with inconsistent findings
- Lower-quality clinical trial
- Cohort study
- Case-control study
|
- SR/meta-analysis of lower-quality cohort studies or studies with inconsistent results
- Retrospective cohort study or prospective cohort study with poor follow-up
- Case-control study
- Case series
|
|
Level 3: other evidence |
Consensus guidelines, extrapolations from bench research, usual practice, opinion, disease-oriented evidence (intermediate or physiologic outcomes only), and case series for studies of diagnosis, treatment, prevention, or screening |
| Consistency Across Studies |
Consistent |
- Majority of studies reported similar or at least coherent conclusions (i.e., differences are explainable), or
- If high-quality and up-to-date systematic reviews or meta-analyses exist, they support the recommendation.
|
Inconsistent |
- Considerable variation among study findings and lack of coherence, or
- If high-quality and up-to-date systematic reviews or meta-analyses exist, they do not find consistent evidence in favor of the recommendation.
|
1 That is, cohort design, adequate size, adequate spectrum of patients, blinding, and a consistent, well-defined reference standard.
2Allocation concealed, blinding if possible, intention-to-treat analysis, adequate statistical power, and adequate follow-up (i.e., >80%).
3One in which the treatment causes a dramatic change in outcomes (e.g., antibiotics, meningitis, or surgery for appendicitis) that precludes study in a controlled trial.
