The human genome project discovered that protein coding regions make up what percent of the human genome?
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
Problem B.7
Textbook Question
Diseases 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?

1
Explain the nature of the diagnosed condition, including its genetic basis, mode of inheritance, and how it affects the infant's health and development.
Discuss the potential treatments, management options, and prognosis to help parents understand what to expect and how to care for their child.
Provide information about the likelihood of recurrence in future pregnancies, including the genetic risks and options for genetic counseling or testing for the parents and family members.
Offer emotional support resources, such as connecting parents with support groups, counseling services, and healthcare professionals specialized in the condition.
Ensure parents understand the importance of follow-up care and monitoring, and provide clear guidance on next steps, including referrals to specialists or early intervention programs.

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Key Concepts
Here are the essential concepts you must grasp in order to answer the question correctly.
Newborn Screening and RUSP
The Recommended Uniform Screening Panel (RUSP) is a list of genetic, metabolic, and other conditions screened in newborns to enable early detection and treatment. Understanding the purpose and scope of RUSP helps explain why early diagnosis is critical for preventing severe health issues or developmental delays.
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Genetic Counseling
Genetic counseling involves providing parents with clear information about the diagnosed condition, inheritance patterns, prognosis, and available treatments. It supports informed decision-making and emotional coping by addressing parents’ questions and concerns about the child’s health and future.
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Psychosocial Support and Communication
Effective communication includes delivering the diagnosis with sensitivity, offering emotional support, and connecting families to resources such as support groups or specialists. This helps parents manage stress, understand the implications, and plan for ongoing care and interventions.
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