3. Another one bites the dust
David and his fiancé were sitting in the counselor’s office again, this time at David’s request.
Only when those genetic changes are significant enough to affect health or fitness do we think of them as “bad.” But even some apparently “bad” genes can be good.
There’s no such thing as a “bad gene.” Genes exist for very good reasons. There are differences in genes. There are changes in genes. These differences that we have are what accounts for all the wonderful traits that we see in people.
Well, you know that several genes for many bad genetic disorders have been discovered and can be tested for, but there is no “universal” test for “bad genes.”
So that’s why I’d like to have a gene test. To see if I carry any bad genes. I’m not going to stay a bachelor forever. At least, not if Kate has her way. Ha ha.

5. …CF. Cystic fibrosis. I manage the claims department at the Fortune-Simplex Health Plan and I’m seeing more and more claims for CF carrier testing. We’d really like to be tested too.
My fiancé is a little nervous about marrying into a family with so many… problems. She wants my genes tested. She’s been reading about…
So David’s sister Stacy and her husband are healthier because they each carry a PKU gene?
We can’t say they’re healthier, but a serious recessive disorder like PKU should have disappeared ages ago if it didn’t provide some sort of advantage to the carrier.
For example, the gene that causes sickle cell disease is thought to give a survival advantage against malaria if a person is a carrier.
Is there a history of CF in either of your families?
Ok…just how much do you know about cystic fibrosis?
No.
No.

6. Cystic Fibrosis Autosomal recessive
Faulty gene (chromosome 7) causes mucus to build up in lungs,
Leads to bacterial infections
Lung damage usually causes early death
Treatments: Transplants, chest thumping, antibiotics

8. But once you know. What would you do with that information
But once you know. What would you do with that information? What if one of you were a carrier? Would you stay together? Would your company cover someone they knew to be a carrier? Would your company promote you? Even continue to employ you if they knew you were a carrier? These are questions you should consider before you do the test.
Wouldn’t it be the responsible thing to do? Shouldn’t we know about our bad… I mean potentially harmful genes?
So why do you want to know if you are carriers of CF?
But what would you do with that information?
… know. We would just know.
Well….we…. would…

9. My assistant’s son had CF
My assistant’s son had CF. They all had a daily regime of medications, exercises, and therapies. He’s a great kid. They’re hoping for a breakthrough, a genetic cure. They’re a part of a big research program down at the University.
If we find that one of you is a carrier, and you decide to pursue prenatal testing, we may not be able to provide a definitive answer about the child. Let’s say we find the CF gene in the fetus. We couldn’t say whether the fetus had CF or was only a carrier since we couldn’t be sure that we’ve ruled out a second CF gene, one that we’re not able to test for.
Carrier testing will give you a better estimate of the chance that you could have a child with CF. It can’t tell you for certain, but it can give you information that you might find useful. But you should be prepared to deal with all the answers that you might get.
As long as you’re aware of the limitations, you’re welcome to have the testing. But it is not recommended.
We’d know if we could have a baby with CF.

10. Human Genetic Research
General study information?
Benefits?
Risks?
Financial considerations?
Storage of samples?
Family participation?
Confidentiality?
Research results?

11. Yep… David’s bachelor days are over.
Not smoking. No drugs or alcohol. Review any medications you are taking with your family doctor. Did you know that folic acid, a vitamin, can help reduce the risk of neural tube defects?
Yes. It’s a simple approach, and you can start today. These vitamins are available “over the counter.” Take these pamphlets to review. Let me know if I can help some more. Have a nice day.
I know that you’re interested in making sure that any children are born healthy. There are many things you can do before pregnancy to help improve your chances of having healthy children.
Yep… David’s bachelor days are over.
So if I take folic acid before I’m pregnant, it should help to avoid birth defects?
Maybe we should think about this some more.

12. Essay #5
Services for people with severe genetic conditions such as CF can impose a financial burden on society. Do you feel that parents who are known carriers of such genetic conditions and who choose to have children anyway should receive these services? Is it society’s obligation to provide such services when the parents could have avoided the problem?