The first set of questions has to do with population genetics:
- What is the second equation?
The second equation is p2+2pq+q2=1
i. p2=Normal (NN)
ii. pq=Carrier (Na)
iii. q2=Affected (AA) - The incidence of cystic fibrosis in Hispanic Americans is 1/4500 while in African Americans cystic fibrosis is seen in 1 of every 15,000 births. What is the carrier frequency for each of this populations?
1/4500 = 0.000222 = q2
i. q = = 0.01490
ii. p+q=1
1. 1-0.01490=0.98510=p
iii. 2pq=2(0.98510)(0.01490)=0.02936
1/15000=0.000066=q2
i. q = = 0.00812
ii. p+q=1
1. 1-0.00812=p
iii. 2pq=2(0.99188)(0.00812)=0.01611 - What is the probability of two Hispanic Americans having a child with cystic fibrosis, given that there is no history of the disease in either’s family?
Carol is an African American woman who does not suffer from CF. Both of her parents are healthy, but her brother has cystic fibrosis. Carol is planning a family with her husband Marcus, who is also an African American but who has no history of CF in his family. What is the probability of them having a child with CF?
The parents are carriers of CF. Thus, there is a 50% chance that Carol is a carrier too.
The next set of questions will resolve any loose ends that have been left out:
- What are some of the risks and benefits of genetic testing as it relates to legal (not medical) issues?
Some of the legal risks of genetic testing are loss of insurance, exclusion from employment, or other forms of discrimination.
The problem is that genetic testing tests the LIKELIHOOD OF OCCURRENCE of diseases. For instance the presence of a cancer causing gene may indicate predisposition but does not guarantee that the person will contract the disease: How should an employer or insurer respond? The ethical, social and legal implications of these technological advances have been the subject of significant scrutiny and concern. - Do you think an unintended consequence of genetic testing could be that people would be less liable to seek medical care out of fear that they could later be denied life or death insurance? What laws should be used to govern the use of genetic data of this type?
An unintended consequence of genetic testing could be that people would be less liable to seek medical care out of fear that they could later be denied life or death insurance
To govern the use of genetic data, laws of confidentiality should be enacted. However, it is legally impossible to disable health plans or organizations from accessing such information.
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