TY  - JOUR
AU  - Cornel, Martina
PY  - 2018
DA  - 2018/02/11
TI  - Responsible Implementation of Expanded Screening Programs for Genetic Diseases at the Beginning of Life
JO  - OBM Genetics
SP  - 013
VL  - 02
IS  - 01
AB  - Technology makes it possible to expand many of the current screening programs. In preconception screening for carrier status of recessive diseases, prenatal screening for aneuploidies and neonatal screening initially programs were targeting one or a few conditions. Tandem mass spectrometry and genomic technologies, such as sequencing and panel testing, make it possible to increase the scope of the programs to include more disorders or markers. While inclusion of more similar conditions may lead to a better achievement of the goal of screening, including non-similar conditions raises new questions. Informed decision making requires adequate and relevant information, which may be a challenge if many more conditions are added, especially for non-similar conditions. Goals of health benefit and reproductive choice may become blurred, which demands a clear communication on the aims. Screening for more conditions risks increasing the number of false positives. For cancer screening and cardiovascular risk profiling later in life, it is conceivable to add family history and polygenic risk scores in existing screening programs. Evaluation of pros and cons including the cost-effectiveness is needed for possibilities of expanded screening. The new technologies combined with a targeted analysis based on the careful evaluation of pros and cons are likely to make screening better.
SN  - 2577-5790
UR  - https://doi.org/10.21926/obm.genet.1801013
DO  - 10.21926/obm.genet.1801013
ID  - Cornel2018
ER  -