Abstract
More than 15 years after the publication of the sequence of the human genome, the resulting changes in health care have been modest. At the same time, some promising examples in genetic services become visible, which contribute to the prevention of chronic disease such as cancer. These are discussed to identify barriers and facilitating factors for the implementation of genetic services. Examples from oncogenetics illustrate a high risk of serious disease where prevention is possible, especially in relatives. Some 5% of breast cancers and colorectal cancers are attributable to an inherited predisposition. These cancers occur at a relatively young age. DNA testing of relatives of affected patients may facilitate primary and secondary prevention. Training of non-genetic health care workers and health technology assessment are needed, as is translational research in terms of bringing genomics to health care practice while monitoring and evaluating. Stratified screening programs could include cascade screening and risk assessment based on family history. New roles and responsibilities will emerge. A clear assessment of the values implied is needed allowing to balance the pros and cons of interventions to further the responsible innovation of genetic services.
Highlights
After the first draft of the sequence of the human genome had been published in the year 2000, expectations were that this would revolutionize diagnosis, prevention, and treatment of most, if not all, human diseases; a decade later, changes in health care were modest [1]
The aim of this study is to discuss how public health can benefit from promising examples of genetic testing, such as in cases of hereditary forms of breast and colorectal cancer, and what barriers and facilitating factors should be addressed for a successful implementation
A third field where public health and genetics meet is the study of the cost-effectiveness or health technology assessment in a broader sense
Summary
After the first draft of the sequence of the human genome had been published in the year 2000, expectations were that this would revolutionize diagnosis, prevention, and treatment of most, if not all, human diseases; a decade later, changes in health care were modest [1]. In 2016, the cost of a whole genome sequence was close to 1,000$. This does not include the analysis of the enormous amount of data. Those who were disappointed about the modest consequences for clinical medicine should remember the First Law of Technology: we invariably overestimate the short-term impacts of new technologies and underestimate their longer term effects [1]. The aim of this study is to discuss how public health can benefit from promising examples of genetic testing, such as in cases of hereditary forms of breast and colorectal cancer, and what barriers and facilitating factors should be addressed for a successful implementation
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