Monday, April 28, 2008
In a gut wrenching episode of Oprah the other day Randy Pausch spoke about pancreatic cancer. It is a scary disease as almost everyone dies from this cancer AND it is so difficult to detect. He is correct, we know so little about pancreatic cancer. We know so little about its pathoetiology(Cause of). We are learning a little about pancreatic cancer genetics.
But what scares the hell out of me is when a well respected pulmonologist and critical care specialist comes up to me today and says "My wife's father had pancreatic cancer. She's scared to death about getting it. She saw on Oprah a genetic test and something called 23andMe. Can you help me get these tests?"
Woah......Big fella!!!! I spent 30 minutes going over familial pancreatic cancer, doing a quick family history and coming up with the fact that there is minimal risk in this 40 year old woman. Other than sever neuroses from watching Oprah and being scared even more.
Frankly, I think Oprah is wonderful for pointing out revolutionary breakthroughs. But, last time I checked, 23andMe, Navigenics, etal. are not testing for the more common causes of familial pancreatic cancer.... BRCA2, Melanoma-Pancreatic, HNPCC, etc.
He then says "But can't we just get one to put her mind at ease?" I said "Well, what she needs is an evaluation" He says "But she just wants the test." That is when it hit me like a cold flash of water in the face. Why does she only want the test?
That is what we need to answer. This answer will lead us to comprehending other questions like
1. Does she understand what the test does?
2. Has she gotten an explanation of the issues of testing?
3. Is she aware of the costs?
4. Did she have a bad outcome with a counselor or doctor about genetics before?
5. Is she aware of genetic evaluation services?
We could always point her to a site like GeneForum for a little FAQ on gene testing. Or we could take the time to sit down and explain things to her. This is directly related to My Last Post with Beta Blockers for everyone. Doctors don't have that 3 hours to explain. This is the same damn reason people with futile illnesses are languishing ventilators in our ICUs costing millions of dollars for incurable diseases, that ultimately end in death. Doctors don't have the time to explain. How in the hell can we give them time? Teach the consumers.
This is precisely what we need to do. The ACMG has issued a statement which Hsien covered nicely. Also it seems people like DNADirect are moving in this direction with Virtual Consultation.
Heather Shappell over at Informed Medical Decisions, a leading expert on phone consultation and leveraging of services and I bot wonder why do we need 20-80 pages of report to explain what can be done so simply in person or via the phone. While I think the virtual is a great thing to leverage our services...there is something to be said of a nice handshake. I have peeled through a few 80 page DTC testing reports. Lots of fluff and no real information. The pie charts were nice though.
The biggest crux of all genetic testing should involve some trained clinicians. This is emphasized by the ACMG statement.
That is why it leads the statement
1. A knowledgeable health professional should be involved in the process of ordering and interpreting a genetic test.
The Sherpa Says:
I bet if this lovely woman knew the limitations and likelihood with testing she would not want to go it on her own. Too bad her wonderful physician husband can't give her that counseling. My concern is that Oprah may not have indicated the use of genetic evaluation by a skilled clinician PRIOR to testing. And we all know what Oprah says is seared in the minds and hearts of MOST of America. Oprah, give me a call. We would love to educate you and your viewer about the promise of Genomic Medicine.