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
1:30 minutes
Problem 7a
Textbook Question
Textbook QuestionDiseases and conditions on the RUSP list are tested on every newborn infant, and if the baby has one of the conditions, the parents are immediately informed. What kind of information and counseling should be provided to the parents along with the diagnosis?
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Key Concepts
Here are the essential concepts you must grasp in order to answer the question correctly.
Newborn Screening
Newborn screening is a public health program that tests infants shortly after birth for certain genetic, metabolic, and endocrine disorders. The goal is to identify conditions that can lead to serious health problems if not treated early. This process typically involves a simple blood test and is crucial for early intervention, which can significantly improve health outcomes.
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Genetic Counseling
Genetic counseling is a process that provides information and support to families who have a member with a genetic condition or who are at risk of inheriting one. Counselors help parents understand the implications of a diagnosis, including the nature of the condition, inheritance patterns, and potential treatment options. This guidance is essential for informed decision-making and emotional support.
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Informed Consent
Informed consent is a fundamental ethical principle in healthcare that ensures patients understand the risks, benefits, and alternatives of a medical procedure or diagnosis before agreeing to it. In the context of newborn screening, parents should be informed about the tests being conducted, the conditions being screened for, and the potential outcomes, allowing them to make educated choices regarding their child's health.
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