Recomendaciones sobre los aspectos éticos de los programas de cribado de población para enfermedades raras

Abstract

The Committee on Ethics of the Instituto de Investigación de Enfermedades Raras (CEIIER) of the Spanish National Institute of Health Carlos III, presents this article dealing with ethical guidelines regarding the implementation of screening population programmes with special emphasis on genetic screening. After a critical review it has been addressed 24 recommendations concerning 14 topics: evaluation of the opportunity of the programme, including ethical analysis besides scientific evidences and cost/benefits issues; the need to differentiate between research and public health intervention and to built a specific and comprehensive programme; the creation of an interdisciplinary working group which control its implementation and prepare a protocol including justification, development, therapeutic or preventive actions and follow-up activities; the review of the programme by an independent Ethical committee; the guarantee of the voluntary, universal and equitable population access, which requires sufficient information on the programme and their specific relevant facts, as incidental detection of heterozygous state in minors in newborn screening and the relevance of non directive genetic counselling specially in prenatal screening offered to pregnant women; considerations regarding future uses of samples for research purposes; total quality and periodic programme evaluation; guarantee of personal data confidentiality and the conflict of interest statement of the members of all the Committees involved in the programme.

Association between use of systematic reviews and national policy recommendations on screening newborn babies for rare diseases: systematic review and meta-analysis

“…Reasons for exclusion were: description of current screening practice, policy, or laws; list of conditions included or considered for inclusion in programme; document stating decision to change programme; document not from national organisation; duplication of included information; patient information; description of organisation or study; no investigation of an included condition; contracts; and not newborn blood spot test (see appendix 4 for references of exclusions with reasons). After exclusions, 93 reports remained 13141516171819202122232428293031323334353637383940414243444546474849505152535455565758596061626364656667686970717273747576777879808182838485868788899091929394959697989910010110...…”

“…After exclusions, 93 reports remained 131415161718192021222324282930313233343536373839404142434445464748495051525354555657585960616263646566676869707172737475767778798081828384858687888990919293949596979899100101102103104105106107108. Two covered Australia and New Zealand together,3033 two were from Australia,61…”

Ethics, genetics and public policies in Uruguay: newborn and infant screening as a paradigm

“…In 2007, Costa Rica achieved one of the most complete coverages of NBS in the world (98.9 %) and spent US$18 per newborn for the detection of 24 diseases (Manuel Saborio, personal communication). The current technological capability to identify genetic anomalies at the population screening level are virtually unlimited and can challenge the health system, in respect to both science and economics (Pàmpols-Ros et al 2010). The global trend is for laboratories to reduce the costs of these tests; however, the main challenge for newborn and prenatal screening is ensuring access to confirmatory tests, treatment, follow-up and genetic counselling.…”

“…There is some consensus that the positive aspects of mandatory NBS make up for the invasion of privacy and loss of parental autonomy (Pelias and Markward 2001). As reported by Pàmpols-Ros et al (2010), the ethical justification given for mandatory NBS is that societies should promote the welfare of children, through early detection and treatment of screened diseases, in spite of parental objection. This means that, in many cases, the affected families are forced to deal with a situation without being properly informed, consulted or prepared.…”

Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023)

“…Two other reports in 2021 draw attention to NBS management issues: one reflects on the revolution envisioned for NBS with the emergence of genomic technology and the continuing need for international harmonization of NBS programs; and the other points to NBS as a healthcare model of precision medicine [998,999]. A three-part series of articles reviewed the history of Spanish NBS focusing on ethical [1000], legal [1001], and social [1002] aspects of the NBS system. As a result of the variations in NBS across the country, several reports since 2020 have reviewed the history and status of various regional screening successes: 50 years of NBS in Catalonia [1003]; 20 years of NBS in Galicia [1004]; 10 years of NBS in Western Andalusia [1005]; 15 years of NBS for SCD in Madrid [1006]; 3 years of NBS for SCD in Western Andalusia [1007]; screening for propionic, methylmalonic acidemia and vitamin B 12 deficiency in Madrid [1008]; 3 years' experience in NBS for SCID in Catalonia [1009,1010]; 8 years' experience with expanded NBS in Madrid [1011]; evaluation of positive cases from NBS in Madrid [1012]; CAH screening in Madrid [1013]; CH cutoff values in the Balearic Islands [1014]; the role of public health in NBS success in the Basque Country [1015]; and, an improved specimen transport system in Catalonia [1016].…”