Monday, June 9, 2008

Newborn Screening for Alzheimer's Disease?

Don't Forget that Gene Genie is up at Neurophilosophy so check it out!

I want to thank the Connecticut Geriatric Socitey for inviting me to speak at their wonderful group's Annual Meeting. It was a lively time and the Salmon was excellent. At the end of the lecture we had a lively debate with several clinicians.

Family history is king when it comes to Alzheimer's Disease. APOE e4 testing is not super worthwhile, unless you identify ApoE e4 in an affected and then work the family up that way. But the 3 gene panel for Early Onset Alzhemier's is definitely a must. Provided the 3 tenets of Informed Consent are met.

What are those 3?

1. A plan of action for results. "What would you do if you had a positive or negative or uncertain test result?


2. Are you Psychologically prepared to handle the results. And do you understand the implications?

3. Do you understand the limitations of the test?


If those three things are met, then testing is likely going to be beneficial. Provided testing is medically indicated.

Here is where I see some shortcomings with this. Did you know that in the US every pregnant white woman is tested for CF carrier status once pregnant? Did they give informed consent? Usually no. It is just added to the panel of testing, much like the quad screen. There are some serious implications in the prenatal realm.

In Medical News Today there is a PR post regarding The Treuman Katz Center for Pediatric Bioethics at Seattle Children's Hospital hosting its fourth annual international bioethics conference on July 25-26, 2008 in Seattle.

This conference will cover some tough issues. Why? Because they need to be addressed. At the Geriatric Society talk, I was asked about pre-implantation diagnosis for Alzhemier's. There is a case report of PGD for Early Onset Alzheimer's with the gene APP. This poses some serious controversy..

Personally, I think this expresses a severe pessimistic view of adult onset disease and the likelihood of no better treatments for Alzheimer's in 30 years. Can you imagine that? It is alot easier when looking at a disease like Huntington's Chorea, where we have known the genetic issue for decades. True for APP Alzheimer's as well. So I ask you, is it such a stretch?

Issues to be covered include: From the Site


With technology rapidly advancing — bringing about more genetic tests — many ethical and policy questions must be addressed to appropriately use these new tools of genetic assessment in children:



  • Which tests should be required of all newborns, and which tests should not be permitted until the child is an adult?


  • Should parents be able to test young children for the risk of future diseases, such as breast cancer or Alzheimer disease?


  • What obligations are there to inform family members about genetic test results that may impact them?


  • What are the ethical implications of using genetic tests to predict behavioral traits, such as attention deficit disorder, addiction and depression?


  • What are the ethical considerations of looking for a genetic predisposition for enhanced abilities, such as the potential for sports performance?


  • What if adolescents and their parents disagree about genetic testing decisions?


  • What genetic tests should be available to prospective parents before the adoption of a child?

A representative from Helix Health of Connecticut will be there. Hopefully it can arrange to have one of the MediCasts cover these topics.



The Sherpa Says:

Ethics, a class taught in all medical schools. Hopefully it was also taught in B-School. The Sherpa has been down this road before..... The Sherpa will be speaking at the Beyond Genome Conference on Tuesday. If you can come, please do.

1 comment:

SciPhu said...

This was such a balanced and informative post. Thank you. I would like to add though that prenatal testing for Alzheimer is approved in the UK. I find that extremely worrying, see http://sciphu.wordpress.com/2008/02/29/tests-that-make-me-sad-updated/