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'Inside-out', back-to-front: a model for clinical population genetic screening
1Centre for Applied Public Health Medicine, University of Wales College of Medicine, Cardiff, UK.
Journal of Medical Genetics
|July 1, 1993
Summary
Advances in DNA technology enable mass genetic carrier screening for inherited disorders. New models for clinical population genetics are needed to manage the implications of widespread genetic screening, including for cystic fibrosis.
Area of Science:
- Genetics
- Public Health
- Medical Technology
Background:
- DNA technology advancements have identified numerous genes, enabling new genetic screening possibilities.
- Mass carrier screening was previously limited to specific disorders like Tay-Sachs disease and haemoglobinopathies.
- Gene therapy is expected to increase momentum for mass carrier screening programs.
Purpose of the Study:
- To discuss the implications of expanding genetic carrier screening programs.
- To highlight the need for new models in genetic service provision.
- To consider the potential for screening multifactorial diseases.
Main Methods:
- Review of current DNA technology and its application to genetic screening.
- Analysis of the impact of carrier screening for specific conditions like cystic fibrosis.
- Consideration of organizational structures for genetic services.
Main Results:
- Widespread carrier screening, such as for cystic fibrosis (affecting 4-5% of the UK population), will significantly impact genetic services.
- Existing genetic service structures are likely insufficient for anticipated screening demands.
- The potential for screening multifactorial diseases, including cancers, warrants consideration.
Conclusions:
- A new specialty of clinical population genetics is necessary.
- A proposed model involves population genetic screening programs under public health physician leadership.
- Clinical screening and follow-up will remain clinician responsibilities.