Sequencing the human genome, the development of microarray technology, and personal genomics promise to improve our understanding of normal and abnormal cell behavior. How are these approaches dramatically changing our understanding and treatment of complex diseases such as cancer?

Klug 12th Edition
Ch. 22 - Applications of Genetic Engineering and Biotechnology
Problem 8Might it make sense someday to sequence every newborn's genome at the time of birth? What are the potential advantages and concerns of this approach?
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Key Concepts
Genomic Sequencing
Ethical Considerations
Public Health Implications
A couple with European ancestry seeks genetic counseling before having children because of a history of cystic fibrosis (CF) in the husband's family. ASO testing for CF reveals that the husband is heterozygous for the Δ508 mutation and that the wife is heterozygous for the R117 mutation. You are the couple's genetic counselor. When consulting with you, they express their conviction that they are not at risk for having an affected child because they each carry different mutations and cannot have a child who is homozygous for either mutation. What would you say to them?
As genetic testing becomes widespread, medical records will contain the results of such testing. Who should have access to this information? Should employers, potential employers, or insurance companies be allowed to have this information? Would you favor or oppose having the government establish and maintain a central database containing the results of individuals' genome scans?
Which of the examples of genetic testing below are prognostic tests? Which are diagnostic?
Individual sequencing (personal genomics) identifies a mutation associated with Alzheimer's disease.
Which of the examples of genetic testing below are prognostic tests? Which are diagnostic?
ASO testing determines that an individual is a carrier for the mutant β-globin allele (βˢ) found in sickle-cell anemia.
Which of the examples of genetic testing below are prognostic tests? Which are diagnostic?
DNA sequencing of a breast tumor reveals mutations in the BRCA1 gene.