How can polygenic inheritance be used in population screening for common diseases? : Genetics in Medicine : Nature Publishing Group
How can polygenic inheritance be used in population screening for common diseases?
- Journal name:
- Genetics in Medicine
- (2013)
- DOI:
- doi:10.1038/gim.2012.182
- Received
- Accepted
- Published online
In this issue of Genetics in Medicine, Chowdhury et al.1 report on the recommendations of multidisciplinary expert workshops convened by the Foundation for Genomics and Population Health (PHG Foundation) in partnership with the University of Cambridge. Participants examined scientific, ethical, and logistical aspects of personalized population screening for prostate and breast cancer based on polygenic susceptibility. The authors recognized the promise of genetic stratification in population screening for breast and prostate cancer and identified key issues that need to be addressed before genetic stratification can be implemented in practice, the most important of which is the need to recognize the benefits and harms of stratified screening as compared with existing screening methods. They also identified several ethical issues such as discrimination of high-risk individuals and patient autonomy in relation to genetic testing of minors; the need for transparency and clear communication about genetic risk scores; and the need to develop new professional competencies and to assess cost effectiveness and acceptability of stratified screening programs before implementation.
We commend the authors for the thoughtful analysis and modeling of potential for improved effectiveness of screening and for early stakeholder engagement in a rapidly moving field. Here, we elaborate on the potential of population screening in an age of genomics and personalized medicine. At the outset, we acknowledge that although the promise of genomics will be first fulfilled in the diagnosis and management of monogenic disorders, its use in population screening for common complex diseases will lag behind due to significant evidentiary as well as implementation challenges.
We commend the authors for the thoughtful analysis and modeling of potential for improved effectiveness of screening and for early stakeholder engagement in a rapidly moving field. Here, we elaborate on the potential of population screening in an age of genomics and personalized medicine. At the outset, we acknowledge that although the promise of genomics will be first fulfilled in the diagnosis and management of monogenic disorders, its use in population screening for common complex diseases will lag behind due to significant evidentiary as well as implementation challenges.
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