Section Community Genetics, Department of Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, 1007 MB Amsterdam, The Netherlands.
Amsterdam Public Health Research Institute, 1100 DD Amsterdam, The Netherlands.
Genes (Basel). 2024 May 3;15(5):581. doi: 10.3390/genes15050581.
In many countries, some form of genetic screening is offered to all or part of the population, either in the form of well-organized screening programs or in a less formalized way. Screening can be offered at different phases of life, such as preconception, prenatal, neonatal and later in life. Screening should only be offered if the advantages outweigh the disadvantages. Technical innovations in testing and treatment are driving changes in the field of prenatal and neonatal screening, where many jurisdictions have organized population-based screening programs. As a result, a greater number and wider range of conditions are being added to the programs, which can benefit couples' reproductive autonomy (preconception and prenatal screening) and improve early diagnosis to prevent irreversible health damage in children (neonatal screening) and in adults (cancer and cascade screening). While many developments in screening are technology-driven, citizens may also express a demand for innovation in screening, as was the case with non-invasive prenatal testing. Relatively new emerging issues for genetic screening, especially if testing is performed using DNA sequencing, relate to organization, data storage and interpretation, benefit-harm ratio and distributive justice, information provision and follow-up, all connected to acceptability in current healthcare systems.
在许多国家，以有组织的筛查计划或不太正式的方式，向全部或部分人群提供某种形式的基因筛查。筛查可以在生命的不同阶段进行，如孕前、产前、新生儿期和生命后期。只有在优势大于劣势的情况下，才应提供筛查。检测和治疗方面的技术创新正在推动产前和新生儿筛查领域的变革，许多司法管辖区都组织了基于人群的筛查计划。因此，更多和更广泛的病症被添加到这些计划中，这可以使夫妇的生殖自主权受益（孕前和产前筛查），并改善早期诊断，以防止儿童（新生儿筛查）和成人（癌症和级联筛查）的不可逆转的健康损害。虽然筛查的许多发展是由技术驱动的，但公民也可能对筛查的创新提出要求，非侵入性产前检测就是一个例子。遗传筛查的一些相对较新的新兴问题，特别是如果使用 DNA 测序进行检测，涉及组织、数据存储和解释、获益-危害比和分配公正、信息提供和随访，这些都与当前医疗保健系统中的可接受性有关。
