Thursday, July 16, 2009

Take Stable People and Genetic Counselors

From Bob Green's Study which is being held up as:


A 90-minute, semiscripted group session that was led by the genetic counselor described the limitations of APOE testing, the absence of a medical benefit of such testing, and the format for communication of the risk.

All subjects later met individually with the genetic counselor for the drawing of blood samples, which were sent to Athena Diagnostics for APOE genotyping.

Subjects were then randomly assigned to receive the genotyping results (the disclosure group) or not to receive the results (the nondisclosure group).

Subjects in the nondisclosure group were individually shown two charts: one showing the incidence of Alzheimer's disease in the general population according to age and another showing the sex- and age-specific incidence of the disease among first-degree relatives of patients with Alzheimer's disease.

Subjects in the disclosure group were shown the same curves with an additional line for their genotype-specific risk . They also received their lifetime cumulative incidence risk by the age of 85 years.

Subjects were told their APOE genotype and were given written reports of their lifetime cumulative incidence risk and remaining incident risk.

None of the subjects had high anxiety or depression scores at baseline, which would have excluded them from the study.

So what you are saying is, we took away all the unstable people, then gave a 90 minutes genetic counseling session to ALL participants and everyone that got the APOEe4 genotype seemed to handle it ok.......

What a crock of Horse$h!t
This actually got published in the NEJM? Even worse, now some dumb marketing rep can say

"According to a study in the prestigious NEJM, people can handle genetic test results when you give them to them"

I am so fed up with this crap I could scream.

For a fresh breath read the editorial

Effect of Genetic Testing for Risk of Alzheimer's Disease
Rosalie A. Kane, Ph.D., and Robert L. Kane, M.D.

The study by Green et al. is a rare and welcome trial of a process that might inform ethics guidelines.

But how reassured should
we be that testing and disclosure would not be harmful? None of the subjects had high anxiety or depression scores at baseline, which would have excluded them from the study.

Presumably, subjects
who agreed to participate were sufficiently indifferent to the potential test results to accept randomization and thus are not representative of those who have a strong perceived need to know or need not to know. It seems possible that some subjects were unable to interpret the data.

Despite the rhetoric of a
new patient-centered, evidence-based society, we remain largely innumerate and poorly equipped to comprehend statistical probabilities.

The Sherpa Says: Another study of hype! Take Stable People and Genetic Counselors, present data over 90 minutes and whaddya get. No big deal. Just like this study.


Anonymous said...

Blogs like yours hopefully will help keep the media and DTC companies honest. With that said, I do think studies like the REVEAL ones are of great importance. This is the first study of it's nature. The great constraint you mentioned (weeding out those with high baseline depressive symptoms) was also mentioned at the end of the paper. As a first step this is great news for personal genomics. Blasting this study as unhelpful is like blasting any new study for associating "gene x" w/ "disease y" as useless because only "z population" was used.

Steve Murphy MD said...

How does this help Personal Genomics?