Population screening for genetic susceptibility to disease
1Department of Medical Genetics, University of Wales College of Medicine, Cardiff.
BMJ (Clinical Research Ed.)
|July 1, 1995
Summary
Genetic screening for common diseases is becoming feasible. However, commercialization must await thorough evaluation, including psychosocial impacts and outcomes for all risk groups, to avoid overshadowing environmental factors.
Area of Science:
- Medical Genetics
- Public Health Policy
- Bioethics
Background:
- Genetic screening for common diseases like cancer, cardiovascular disease, and diabetes is nearing technical feasibility.
- The potential for commercialization raises concerns about premature implementation without adequate evaluation.
Purpose of the Study:
- To advocate for rigorous evaluation of genetic screening technologies before commercial release.
- To emphasize the need for comprehensive assessment of medical and psychosocial outcomes.
- To highlight potential risks of genetic screening, including distraction from environmental factors.
Main Methods:
- Literature review on genetic screening technologies and their implications.
- Analysis of ethical considerations in genetic testing commercialization.
- Discussion of evaluation frameworks for new medical technologies.
Main Results:
- Genetic screening for common diseases is technically feasible but requires careful implementation.
- Evaluation must encompass psychosocial and medical outcomes for both high and low-risk individuals.
- Overemphasis on genetic susceptibility may divert focus from crucial environmental and societal factors.
Conclusions:
- Commercial interests should not drive the introduction of genetic screening without proper evaluation and support.
- A holistic approach is needed, considering individual genetics alongside environmental and social determinants of health.
- Public health strategies may need to prioritize broader social and political measures over individual screening for certain diseases.
Keywords:
Genetics and ReproductionMore Related Videos
Related Concept Videos
02:46Genetic Screens
Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which result in visible changes...
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which result in visible changes...
02:59Cancer Prevention
Several factors can increase the risk of cancer in an individual. About 50% of cancer cases can be prevented by adopting a healthy lifestyle, regular exercise, eating healthy, and following a modest cancer prevention diet. Epidemiological studies have consistently shown that populations with vegetable and fruit-rich diets have reduced the incidence of cancer. On the other hand, populations who have a diet rich in animal fat, red meat, junk food, or high calories are predisposed to cancer.
Some...
Some...
01:11Genome-wide Association Studies-GWAS
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...
01:29Pharmacogenetics and Pharmacogenomics: Overview
Pharmacogenetics and pharmacogenomics examine how genetic factors influence an individual's response to drugs. While pharmacogenetics focuses on the impact of specific genetic variants on drug effects, pharmacogenomics takes a broader approach, studying how genetic variation across populations contributes to differences in drug responses. These fields aim to explain why individuals may experience varying levels of efficacy or adverse reactions to the same medication.Variability in drug...
01:27Principles of Pharmacogenetics: Types of Genetic Variants
The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
01:29Pharmacogenomics: Identification of New Drug Targets
Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...