Table of contents
- 1. Introduction to Genetics51m
- 2. Mendel's Laws of Inheritance3h 37m
- 3. Extensions to Mendelian Inheritance2h 41m
- 4. Genetic Mapping and Linkage2h 28m
- 5. Genetics of Bacteria and Viruses1h 21m
- 6. Chromosomal Variation1h 48m
- 7. DNA and Chromosome Structure56m
- 8. DNA Replication1h 10m
- 9. Mitosis and Meiosis1h 34m
- 10. Transcription1h 0m
- 11. Translation58m
- 12. Gene Regulation in Prokaryotes1h 19m
- 13. Gene Regulation in Eukaryotes44m
- 14. Genetic Control of Development44m
- 15. Genomes and Genomics1h 50m
- 16. Transposable Elements47m
- 17. Mutation, Repair, and Recombination1h 6m
- 18. Molecular Genetic Tools19m
- 19. Cancer Genetics29m
- 20. Quantitative Genetics1h 26m
- 21. Population Genetics50m
- 22. Evolutionary Genetics29m
15. Genomes and Genomics
Genomics and Human Medicine
3:57 minutes
Problem 21a
Textbook Question
Textbook QuestionApplied to the study of the human genome, a goal of GWAS is to locate chromosome regions that are likely to contain genes influencing the risk of disease. Specific genes can be identified in these regions, and particular mutant alleles that increase disease risk can be sequenced. To date, the identification of alleles that increase disease risk has occasionally led to a new therapeutic strategy, but more often the identification of disease alleles is the only outcome.
What personal or ethical issues arising from GWAS might be of concern to physicians or to those who might carry an allele that increases disease risk?
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Key Concepts
Here are the essential concepts you must grasp in order to answer the question correctly.
Genome-Wide Association Studies (GWAS)
GWAS are research methods used to identify genetic variants associated with specific diseases by scanning the genomes of many individuals. This approach helps pinpoint regions of the genome that may harbor genes influencing disease risk, allowing researchers to correlate specific alleles with health outcomes. Understanding GWAS is crucial for evaluating how genetic predispositions can inform medical decisions and public health strategies.
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Ethical Implications of Genetic Testing
The ethical implications of genetic testing, particularly in the context of GWAS, include concerns about privacy, consent, and potential discrimination. Individuals identified as carriers of risk alleles may face psychological distress, stigmatization, or discrimination in employment and insurance. Physicians must navigate these ethical dilemmas while providing care and support to patients who may be affected by their genetic information.
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Informed Consent
Informed consent is a fundamental principle in medical ethics that requires patients to be fully informed about the risks, benefits, and implications of genetic testing before participating in studies like GWAS. This process ensures that individuals understand how their genetic information will be used and the potential consequences of discovering risk alleles. Proper informed consent is essential to respect patient autonomy and promote trust in medical research.
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