If genome sequencing is performed in health care, in theory the opportunity arises to take a further look at the data: opportunistic genomic screening (OGS). The European Society of Human Genetics (ESHG) in 2013 recommended that genome analysis should be restricted to the original health problem at least for the time being. Other organizations have argued that 'actionable' genetic variants should or could be reported (including American College of Medical Genetics and Genomics, French Society of Predictive and Personalized Medicine, Genomics England). They argue that the opportunity should be used to routinely and systematically look for secondary findings-so-called opportunistic screening. From a normative perspective, the distinguishing characteristic of screening is not so much its context (whether public health or health care), but the lack of an indication for having this specific test or investigation in those to whom screening is offered. Screening entails a more precarious benefits-to-risks balance. The ESHG continues to recommend a cautious approach to opportunistic screening. Proportionality and autonomy must be guaranteed, and in collectively funded health-care systems the potential benefits must be balanced against health care expenditures. With regard to genome sequencing in pediatrics, ESHG argues that it is premature to look for later-onset conditions in children. Counseling should be offered and informed consent is and should be a central ethical norm. Depending on developing evidence on penetrance, actionability, and available resources, OGS pilots may be justified to generate data for a future, informed, comparative analysis of OGS and its main alternatives, such as cascade testing.
- MeSH
- genetické testování etika normy MeSH
- genetika člověka etika organizace a řízení normy MeSH
- lidé MeSH
- směrnice pro lékařskou praxi jako téma * MeSH
- společnosti lékařské normy MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Geografické názvy
- Evropa MeSH
Eighth edition ix, 531 stran : ilustrace
1st ed. XVII, 334 s.
ix, 253 s. : il., tab. ; 24 cm
- MeSH
- asistovaná reprodukce MeSH
- dítě MeSH
- důvěrnost informací MeSH
- genetické nemoci vrozené MeSH
- genetické služby MeSH
- lékařská etika MeSH
- lékařská genetika MeSH
- poskytování zdravotní péče MeSH
- potrat eugenický MeSH
- rozhodování MeSH
- věk při počátku nemoci MeSH
- Check Tag
- dítě MeSH
- Publikační typ
- monografie MeSH
- Geografické názvy
- Čína MeSH
- Spojené království MeSH
