EUROPEAN CYSTIC FIBROSIS SOCIETY (ECFS)
 

ECFS Neonatal Screening Working Group
OUTCOME BRANCH

Fields of interest

• follow-up clinical criteria

• cost-effectiveness studies

• evaluation of benefits and drawbacks of CF neonatal screening

Aims of study

1. to compare the costs, efficacy and effectiveness of different neonatal screening strategies
2. to evaluate the benefits and drawbacks of different neonatal screening strategies
3. to assess whether neonatal screening for CF is cost-effective

Background

The last years neonatal screening for CF has been added to routine newborn screening programmes in several European countries. Although health benefits for children with CF appear to outweigh the risks of neonatal screening for CF, on many areas only limited information is available. There is no uniform approach of neonatal screening for CF, and no efforts have been made to compare the cost-effectiveness of the different approaches.

It is not known which screening strategy would be optimal, in particular in relation to a weighted balance of benefits and risks.

Coordinators

Jeannette Dankert-Roelse
Carlo Castellani

Participants

Elisabette Bignamini
Muriel le Bourgeois
Carla Colombo
Irmgard Eichler
Rolando Gagliardini
Silvia Gartner
Barbara Judge
Luciana Lapichino
Anil Mehta
Anne Munck
Ettore Provenzano
Sabine Renner
Dorota Sands
Veronika Slalicka
Kevin Southern
Giovanni Taccetti

Preliminary plan of action

Develop a data registry aimed at

1: collecting data during 2 consecutive years on the following issues

For each participating country/region

• Total birth cohort
• Total number neonatal screening tests for CF
• Screening strategy
• Number of positive tests
• Number of CF patients detected by screening
• Number of CF-patients not-detected by screening

For each identified CF-patient

• Age at diagnosis

• Genotype

• Number in ECFS-registry (if available)

• Survival

• Number of hospital admissions and length of stay

• Number of outpatient clinic visits, planned and unplanned

•  weight at birth, at age 6 months, 1 yr, (18 months)

• height at birth, at age 6 months, 1 yr, (18 months)

• bacterial cultures of sputum or deep throat at age 6 months, 1 yr, 18 months

• chest-X-ray score

• liver-enzymes

2: collecting data on costs during 1 year

For each baby with a positive screening test

• all costs related to obtaining and analysing the first blood sample for IRT
• all costs  related to obtaining and analysing the second tier (including DNA-analysis)
• (all costs related to a third tier)
• costs of sweat test(s)

• costs of hospital evaluations, including travel expenses for visiting the hospital
• costs of genetic counselling

For each identified CF-patient:

• costs of DNA-analysis, if not performed during screening
• description and costs of treatment
• Number and costs of hospital admissions
• Number and costs of outpatient clinic visits

3:compare with cohort of non-screened infants from ECFS-registry (set up as a case-control study) the following clinical data

• Age at diagnosis

• Genotype

• Survival

• Number of  hospital admissions and length of stay

• Number of outpatient clinic visits, planned and unplanned

• weight at birth, at age 6 months, 1 year, (18 months)

• height at birth, at age 6 months, 1 year, (18 months)

• bacterial cultures of sputum or deep throat at age 6 months, 1 yr, (18 months)

• chest-X-ray score

• liver-enzymes

4 :the following data on costs

• costs of sweat-test(s) and DNA-analysis
• costs of all diagnostic procedures before the diagnosis CF was made
• description and costs of treatment before and after CF-diagnosis
• Number and costs of hospital admissions
• Number and costs of outpatient clinic visits

Modus operandi

e-mails, opportunities of satellite or dedicated meetings