Case History: Pre-screening meeting and family history interview. Susan and John enter the testing facility unsure and nervous. They are thinking of starting a family but have questions regarding the possibility of cystic fibrosis in the family tree. You need to put them at ease and give them the best, impartial information possible. You begin by giving them all of the relevant information about the disease, its prevalence and options. As a genetic counselor, your next responsibility is to take a family history from the couple. These questions will help you to determine their risk for cystic fibrosis. This risk assessment will include creating a pedigree chart and calculating the percentages of each family member having the trait and the possibility of Susan and John passing that trait on to their children. Below is a list of questions and Susan and John's answers: Questions: What is your ethnicity? Susan: % Dutch and % Irish John: Full German Who in your family has been diagnosed with cystic fibrosis? Parents? Susan's parents do not have the disease. John's parents do not have the disease. Siblings? Susan is an only child. John's only sister has the disease. John has no brothers. Grandparents? Susan's Grandparents did not have the disease, but she remembers hearing about a distant cousin who had the disease. John has no information about his grandparents. Given this history only, what are the chances that their child will have cystic fibrosis? Is there any uncertainty in your prediction? Explain. As a genetic counselor, you inform Susan and John that a blood test for cystic fibrosis is available. Would you recommend genetic testing for Susan and John? Explain. What are possible pros and cons to the testing? After weighing your advice and considering their options, Susan and John decide to be tested for the cystic fibrosis mutation. They ask their insurance company to pay for the testing. Justify the necessity of each test to the Medical Insurance Company. Justification for cystic fibrosis tests: 3

Case History: Pre-screening meeting and family history interview. Susan and John enter the testing facility unsure and nervous. They are thinking of starting a family but have questions regarding the possibility of cystic fibrosis in the family tree. You need to put them at ease and give them the best, impartial information possible. You begin by giving them all of the relevant information about the disease, its prevalence and options. As a genetic counselor, your next responsibility is to take a family history from the couple. These questions will help you to determine their risk for cystic fibrosis. This risk assessment will include creating a pedigree chart and calculating the percentages of each family member having the trait and the possibility of Susan and John passing that trait on to their children. Below is a list of questions and Susan and John's answers: Questions: What is your ethnicity? Susan: % Dutch and % Irish John: Full German Who in your family has been diagnosed with cystic fibrosis? Parents? Susan's parents do not have the disease. John's parents do not have the disease. Siblings? Susan is an only child. John's only sister has the disease. John has no brothers. Grandparents? Susan's Grandparents did not have the disease, but she remembers hearing about a distant cousin who had the disease. John has no information about his grandparents. Given this history only, what are the chances that their child will have cystic fibrosis? Is there any uncertainty in your prediction? Explain. As a genetic counselor, you inform Susan and John that a blood test for cystic fibrosis is available. Would you recommend genetic testing for Susan and John? Explain. What are possible pros and cons to the testing? After weighing your advice and considering their options, Susan and John decide to be tested for the cystic fibrosis mutation. They ask their insurance company to pay for the testing. Justify the necessity of each test to the Medical Insurance Company. Justification for cystic fibrosis tests: 3

Nutrition Through The Life Cycle

7th Edition

ISBN:9781337919333

Author:Brown, Judith E.

Publisher:Brown, Judith E.

Chapter9: Infant Nutrition- Conditions And Interventions

Section: Chapter Questions

Problem 7RQ

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