By Secretary or By Professional Report

A recent study caught my eye. Done by multiple centers.....

from the Division of Laboratory Systems,* Centers for Disease Control and Prevention, Atlanta, Georgia; the Wadsworth Center, New York State Department of Health, Albany, New York; the Albert Einstein College of Medicine, New York, New York; ARUP Laboratories and the University of Utah, Salt Lake City, Utah; the Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington; San Ramon Valley Primary Care, San Ramon, California; the Genetic Services Laboratory,** Sequenom Incorporated, San Diego, California; and the Department of Human Genetics, Mount Sinai School of Medicine, New York, New York.

What did they investigate? Simple....how genetic tests were orderded and how results were given. What really got my goat was the results.

First as a preface....the AMA in June put out a statement against DTC genetic testing Resolution 502, A-04. D-480.987 in case you want to check it out. This statement says:

Our AMA: (1) recommends that states restrict the performance of clinical and laboratory genetic testing to individuals under the personal supervision of a qualified health care professional......

Also in the AMA policy manual is E-2.131.....

Physicians who order genetic tests should have adequate knowledge to interpret information for patients. In the absence of adequate expertise in pre-test and post-test counseling, a physician should refer the patient to an appropriate specialist....

So with that backdrop I give you the study "Ordering Molecular Genetic Tests and Reporting Results. Practices in Laboratory and Clinical Settings."

To understand better the contributing factors to such compromised care, we investigated both pre- and postanalytical processes using cystic fibrosis mutation analysis as our model.

Ok this will be great! CF testing. When was the last time the OB went over pre and post test counselling for carrier status???? I can't wait to see the results...

1. We found that although the majority of test requisition forms requested patient/family information that was necessary for the proper interpretation of test results, in many cases, these data were not provided by the individuals filling out the forms.

2. We found instances in which result reports for diagnostic testing described individuals as carriers where only a single mutation was found with no comment pertaining to a diagnosis of cystic fibrosis.

3. Remarkably, a pilot survey of obstetrician-gynecologists revealed that office staff, including secretaries, often helped order genetic tests and reported test results to patients, raising questions about what efforts are undertaken to ensure personnel competency.

If you have any question as to why OB/Gyns get sued more often than anyone else.....look no further than the results of this study!

The Sherpa Says: The real pickle is this. The American College of Obstetrics and Gynecology recommends that every pregnant woman get "screened" for cystic fibrosis mutations. So the OBs are forced to do this testing.....oh wait, no they aren't. They could actually refer patients. Or even better, they could hire a geneticist. But why do that when they could just have their secretary do that work? Scary stuff!!! This makes DTC look pretty warm and fuzzy.

Drug overcomes mutations

Today in the Times Online an article introduces a new type of medication. Called PTC124, this medication allows ribosomes to "pass-over" nonsense mutations, allowing for fully transcribed protein. The functional properties of PTC124 are similar to the aminoglycoside antibiotic gentamicin, but the two compounds are chemically distinct and PTC124 does not exhibit any antibiotic characteristics. In vitro experiments showed PTC124 to be superior to gentamicin at ribosomal read-through of nonsense mutations. Currently the drug has passed Phase II trials of Duchenne Muscular Dystrophy and of Cystic Fibrosis

If we look at disease burden in rare genetic diseases, nonsense mutations(mutations coding for a stop sequence in the middle transcription, resulting in a truncated protein/mRNA) make up a significant amount of afflicted patients. Here is a press release from the company. It does turn out that this company is privately held, but I am sure Genzyme or another company is looking for a new M&A target.

Here's what the Gene Sherpa says, PTC124 could hold tremendous promise however I will await phase III trial results. There are always unanticipated outcomes, possibly tumorigenesis(cancer creation). Trials are currently recruiting if you are interested.That being said, we may see the development of other molecules designed to overcome our genetic shortcomings.

Lastly I just want to be perfectly clear about what I had said in a previous email. It may alienate me from other blogs, or hired gun blogs for certain DTC testing companies. Just look for the Gene Sherpa link. If it's gone on your favorite blogs, then chances are we have a shill.
When Han Solo told Luke that travelling through Lightspeed isn't like dusting crops I am certain he was talking about genetic testing. In home testing has no place in this world, unless it is guided by a TRAINED professional. I hope too many people will not be harmed by this senseless promotion of testing without counseling. No offense to other doctorates, but I took an oath to help or at least do no harm. Primum Non Nocere Unfortunately, most of the professionals marketing these tests have not. The physicians employed by them perhaps have forgotten this oath.