references
1. Newborn Screening: 1 heel prick test has the potential to diagnose 50 diseases, Charles River Associates Report, January 2024
2. HSE National Children's Screening Programmes Report 2020 - 2022
3. United States CDC reports a 1 in 300 positivity rate for newborn screening based on 29 conditions tested. Applying this ratio to Irish birth rates for the year 2022, we can surmise the following:
- Calculation
- Newborns: 57,540
- Potential number of positive cases: 57,540/300 = 191.8 cases
- If a fully comprehensive newborn screening program were implemented in Ireland with 48 conditions (such as Italy) then we would expect >200 positive cases in Ireland each year
- https://www.nichd.nih.gov/health/topics/newborn/conditioninfo/infants-screened#:~:text=The%20latest% 20CDC%20data%20show,newborns%20screened%20is%20eventually%20diagnosed.
4. The Cost of Delayed Diagnosis in Rare Disease: A health economic study, Everylife Foundation for Rare Diseases, September 2023
5. Consolidated principles for screening based on a systematic review and consensus process, Dobrow et al, CMJ 2018
- Calculation
- Number of families = 1.2 million
- Number of people living with a rare disease = 300,000 (ref #4)
- 300,000/1.2 million = 25%
8. Rare Reality Report, Rare Diseases Ireland, January 2022
10. An estimate of the cumulative paediatric prevalence of rare diseases in Ireland and comment on the literature, Gunne et al. Eur. J. of Hum. Gen. 30, 1211-1215 (2022)
- Calculation
- Percentage of Bed Days used by RD patients = 51.9%
- Percentage of RD patients among cohort = 4.2%
- Ratio of Bed Days to RD patients = 51.9%:4.2% = 12.35:1
- Percentage of Bed Days used by non-RD patients = 48.1%
- Percentage of non-RD patients among cohort = 95.8%
- Ratio of Bed Days to non-RD patients = 48.1%:95.8% = 0.5:1
- Time spent by RD patients in hospital V’s non-RD patients = 12.35/0.5 = 24.7 times
