TY  - JOUR
AU  - Burke, Wylie
AU  - Laberge, Anne-Marie
PY  - 2017
DA  - 2017/09/21
TI  - Avoiding the Technological Imperative: Criteria for Genetic Screening Programs
JO  - OBM Genetics
SP  - 006
VL  - 01
IS  - 03
AB  - Genetic screening is the process of systematically evaluating a defined population for genetic conditions or predispositions, in the hope of providing benefit to those with a positive result. With advances in sequencing technology, genetic screening is moving from phenotype-based to genotype-based testing. Although sequencing technology offers expanded opportunities for early identification of disease, the availability of a suitable and acceptable test is not a sufficient justification to proceed: established criteria for screening apply to genetic screening efforts as to other screening programs. 
We review here criteria for screening developed in public health practice, applications of screening in genetics, and particular challenges posed by genetic screening.  These challenges include the potential for overdiagnosis of rare conditions, the special case of reproductive genetic screening, the pitfalls of opportunistic screening, and the implications of genotype-based population screening for individuals and health care systems.  
Promising opportunities in genetic screening underscore the need for  evidence to evaluate proposed genetic screening programs to determine whether they can meet the established criteria for screening.  Some contested issues, such as indications for prenatal screening and opportunistic screening, cannot be resolved by research but also require judgements about values and priorities, ideally involving input from all stakeholders (clinicians, healthcare payers, and the public). 
If technology capacity is allowed to drive genetic screening activities in the absence of evidence for benefit, a growing number of asymptomatic individuals will receive a genetic diagnosis yet will remain uncertain about whether their test results represent a legitimate diagnosis, overdiagnosis, or a false positive finding.  This will in turn drive additional medical work-up and treatment, resulting in costs to the healthcare system and the risk of iatrogenic harm.  
Criteria for screening were developed to minimize these potential harms and apply to genetic screening as much as to other types of screening.
SN  - 2577-5790
UR  - https://doi.org/10.21926/obm.genet.1703006
DO  - 10.21926/obm.genet.1703006
ID  - Burke2017
ER  -