We're unable to sign you in at this time. Please try again in a few minutes.
We were able to sign you in, but your subscription(s) could not be found. Please try again in a few minutes.
There may be a problem with your account. Please contact the AMA Service Center to resolve this issue.
Contact the AMA Service Center:
Telephone: 1 (800) 262-2350 or 1 (312) 670-7827  *   Email: subscriptions@jamanetwork.com
Error Message ......
Article |

Genetic Testing for Alzheimer Disease Practical and Ethical Issues

Allen D. Roses, MD
Arch Neurol. 1997;54(10):1226-1229. doi:10.1001/archneur.1997.00550220036011.
Text Size: A A A
Published online


The dissection of the heterogeneous genetics of the Alzheimer diseases (ADs) is currently more advanced than in any other common disease. Not only are 3 uncommon autosomal dominant mutation loci identified, but universally inherited susceptibility polymorphisms associated with risk and age of onset distributions for familial and "sporadic" AD are also confirmed. The utility of testing for mutations of the amyloid precursor protein and the presenilin 1 and presenilin 2 genes conforms to strategies in common use for rare mutations. The selection of patients with very early-onset AD, especially those with family histories of the disease, will increase the possibility of diagnosis. All testing should be performed using recommended counseling procedures. Apolipoprotein E (ApoE) susceptibility polymorphisms are genetic risk factors but do not allow prediction of the age of onset of AD for cognitively normal individuals. Recent large, collaborative studies have found that when ApoE genotyping is used sequentially in diagnosis following criteria-based evaluations, the specificity of early diagnosis is significantly increased. For patients clinically diagnosed with AD who carried an ApoE ε4 allele, the positive predictive value was 94% and 97% in 2 multicenter collaborative series. The utility of ApoE genotyping is reviewed and recommendations for early use in diagnosis are explained. There are ethical, social, actuarial, and legal problems currently associated with genetic testing and these concerns are also discussed.


Sign in

Purchase Options

• Buy this article
• Subscribe to the journal
• Rent this article ?





Also Meets CME requirements for:
Browse CME for all U.S. States
Accreditation Information
The American Medical Association is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians. The AMA designates this journal-based CME activity for a maximum of 1 AMA PRA Category 1 CreditTM per course. Physicians should claim only the credit commensurate with the extent of their participation in the activity. Physicians who complete the CME course and score at least 80% correct on the quiz are eligible for AMA PRA Category 1 CreditTM.
Note: You must get at least of the answers correct to pass this quiz.
Please click the checkbox indicating that you have read the full article in order to submit your answers.
Your answers have been saved for later.
You have not filled in all the answers to complete this quiz
The following questions were not answered:
Sorry, you have unsuccessfully completed this CME quiz with a score of
The following questions were not answered correctly:
Commitment to Change (optional):
Indicate what change(s) you will implement in your practice, if any, based on this CME course.
Your quiz results:
The filled radio buttons indicate your responses. The preferred responses are highlighted
For CME Course: A Proposed Model for Initial Assessment and Management of Acute Heart Failure Syndromes
Indicate what changes(s) you will implement in your practice, if any, based on this CME course.


Some tools below are only available to our subscribers or users with an online account.

0 Citations

Sign in

Purchase Options

• Buy this article
• Subscribe to the journal
• Rent this article ?

Related Content

Customize your page view by dragging & repositioning the boxes below.