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.

Direct To Physician Testing... Myriad re-enters the fray.

According to my insider sources it appears that Myriad is going to launch a Direct To Consumer testing campaign for Hereditary Breast and Ovarian Cancers. Their quote is:

• "Because 1 out of 10 patients in your practice may be at risk for hereditary breast or ovarian cancer....Help Turn the Tide"
  

What happened the last time they campaigned? Demand for counseling went up 244% In addition there is a significant amount of literature that indicates the number one reason a "non-geneticist" orders a genetic test is patient request.

There are several ethical issues that need to be addressed with direct to consumer testing.

• A number of these tests lack data on their accuracy and reliability, making interpretation of results difficult.
• DTC genetic testing is undertaken outside the context of the physician-patient relationship and may lack appropriate individual and family genetic counseling,
• This often is leaving the consumer vulnerable to potential harms, such as misinterpretation of results, including false positive or false reassurance, with limited or no benefits

There are several solutions to these problems. None of which should exclude a trained health professional. Remember what I said before "beware the doctor peddling genetic tests"

The Gene Sherpa says: New York in October, the Avon Breast walk, Myriad and its DTC brokers will make some serious cash. Please make sure it is not at YOUR expense. Get the right follow up, get the continuity of care, and BEWARE NON-GENETICISTS SELLING GENETIC TESTS!

Of Media and Men...Down Syndrome Evangelists

Yesterday in the New York Times there was a front page story about first trimester screening for chromosomal diseases and the families of children with Down Syndrome. These families are inviting pregnant women who test positive to come meet their children with Down Syndrome. They do this in hopes of showing the pregnant woman what it is like to have a child with Down Syndrome.

I normally don't get too heated about the media. There are things I generally accept regarding the old media and genetics

1. They have people reviewing the science who have little if any genetic qualifications


2. They hype everything


3. They always look for a protagonist antagonist situation


4. They never look to support personal choice (Trust me they already have chosen for you)

So with that in mind I invite you to read this article if you haven't already. I would like to give you a little snippet here:

"The parent evangelists are driven by a deep-seated fear for their children’s well-being in a world where there are fewer people like them. But as prenatal tests become available for a range of other perceived genetic imperfections, they may also be heralding a broader cultural skirmish over where to draw the line between preventing disability and accepting human diversity."

Come on now NYT, word choice is everything here and it is clear that this paper feels strongly NOT in favor of these parents.

"They are pressing obstetricians to send them couples who have been given a prenatal diagnosis and inviting prospective parents into their homes to meet their children."

I have a hard time pressing obstetricians to refer for genetic counseling. I have a hard time believing that these parents are even given the time of day by the Ob/Gyn, let alone being influenced or bullied.

The Gene Sherpa says: In the spirit of non-directive genetic counseling (something I rarely see CGCs do completely and something I wonder if the public even wants) we should offer all options to the patient. This public forum/support group could be mentioned just as easy as a D&E. In fact I think all options should be on the table PRIOR to testing.

Read the article and let me know how you feel.

Mammography at 40

Recently the American College of Physicians (The Organization of Internal Medicine/ACP) released guidelines regarding mammography at 40 years of age. Until now the ACP guidelines were everyone 40 and over gets mammography. There is very little good literature that supports this previous recommendation, yet the American Cancer Society, ASCO, and ACOG still recommend that every woman 40 and above gets a mammo every 1-2 years. The ACP found that in their analysis the conclusion was "Although few women 50 years of age or older have risks from mammography that outweigh the benefits, the evidence suggests that more women 40 to 49 years of age have such risks." After reading the study and looking at the guidelines, they are not that drastic. Key Point Include

• Women 40-49 should have routine risk assessments for breast cancer risk. What is increased risk?
• 2 first degree relatives with breast cancer
• One with breast cancer and a previous breast biopsy(the patient)
• Previous breast cancer
• Previous noncancerous breast gland changes(DCIS, atypical hyperplasia)
• Prior chest irradiation (for cancers/not for a chest xray)
• BRCA1 or 2 mutations or family members with these mutations
• Physicians should inform these 40-49 year old women of the risks and benefits of mammography. What are the risks?
• False positive results (never shown to cause psychiatric problems:anxiety, depression etc.)
• Radiation exposure
• False reassurance from missed tumor
• Clinicians should base their screening mammography decisions on the woman's preference and risk profile.

The Gene Sherpa says: If you are younger than 50 mammography should be a collaborative choice between the physician and the patient. The problem?....When has a physician used a risk assessment tool to evaluate a patient for breast cancer? Sure cancer geneticists do this. But Internists? Sounds like we need some education for the internist, and for the patient. Would you get the mammogram?