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 ......
Editorial |

Presymptomatic and Preimplantation Genetic Diagnosis Neurology, NextGenetics, and the Next Generation

Golder N. Wilson, MD, PhD1,2,3
[+] Author Affiliations
1Texas Tech University Health Science Centers, Amarillo, Texas
2Texas Tech University Health Science Centers, Lubbock, Texas
3KinderGenome Pediatric Genetics, Medical City Hospital, Dallas, Texas
JAMA Neurol. 2014;71(4):403-404. doi:10.1001/jamaneurol.2013.5834.
Text Size: A A A
Published online


The well-documented article by Uflacker et al1 shows the 2 sides of genetic progress with presymptomatic diagnosis2 foretelling tragic prion disease3,4 and preimplantation genetic diagnosis (PGD)5,6 allowing selection of unaffected offspring. This 2-edged sword also cuts across modern genetic testing, in which the benefits of comprehensive screening by microarray analysis7 and rapid NextGen sequencing8 are tempered by high costs, unequal access, and the uncertain consequences of nucleotide change. One major challenge is to distinguish disease-causing (pathogenic) mutations from benign variations (polymorphisms), an issue not faced by the patient of Uflacker et al,1 since her prion protein PRNP F198S amino acid substitution (phenylalanine to serine at position 198) had been observed in other patients with spongiform encephalopathy (SE).3,4 Applicable to their report1 is the even greater challenge for gene test interpretation posed by multifactorial determination (interaction of multiple genes plus environment to cause disease), the usual mechanism for common diseases like epilepsy9 but also operative when identical single-gene mutations cause variable outcomes within and among families.

Sign in

Purchase Options

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

First Page Preview

View Large
First page PDF preview





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.

See Also...
Articles Related By Topic
Related Collections
PubMed Articles