Wednesday, January 11, 2017

Consumer Genetic Testing: The Road Unfortunately Not Taken in Germany

Breast cancer patients should be as informed as possible about the causes--often myriad, often unknowable--of their illness. Although cancer can theoretically be caused by things as random as an accidental genetic mutation or consumption of sugar and wine, several known genetic causes can be determined with a simple saliva test (spit in a tube, pay a nominal fee, and FedEx the sample to a lab). For fees ranging from $149 or less up to around $500, American and British citizens can find out whether they have a statistical likelihood of developing cancer and a range of other ills. Personally, I'm interested in the $249 offer from Color Genomics for the following genes known to be involved in breast cancer and other ills:

APC, ATM, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4*, CDKN2A(p14ARF),
CDKN2A (p16INK4a), CHEK2, EPCAM*, GREM1*, MITF*, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2,
PMS2**, POLD1*, POLE*, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53 


The thing is, I live in Germany, a nation devoted to rules and regulations. I can buy the Color Genomics test, or the 23andme test on the Internet and send back a saliva sample, but I can't get the results as long as I'm physically present in Germany. If I want a BRCA gene test in Germany, I have to pay a lab between three and four thousand dollars, because my health insurance company  pays for such tests only when two other female relatives have breast cancer. I'm statistically unlikely to have a gene that causes cancer because I'm the only woman in my family who has it. But I'd like to know for sure, and I'd like to be able to inform my twelve-year-old daughter whether we're free of cancer-causing genes. She'd like to know, too.
I sent emails to the German Federal Minister of Health, Hermann Gröhe, ccing my physicians, and to the Deutschkrebsforschungszentrum (German Cancer Research Center) detailing my reasons for wishing to be able to buy an inexpensive test. The Cancer Center replied at length, including many websites I've already toured, but here's the meat of the message:
In Germany, predictive genetic testing may only be performed by specialized physicians qualified in human genetics after a thorough adequate information and counselling of the patient. 
For more information, please see the German Genetic Diagnostics Act (Gendiagnostikgesetz):
https://www.gesetze-im-internet.de/bundesrecht/gendg/gesamt.pdf .

For a qualified counselling, patients can refer to one of the centers of the German Consortium of Hereditary Breast and Ovarian Cancer (GCHBOC):
http://www.konsortium-familiaerer-brustkrebs.de/das-konsortium/zentren-des-konsortiums/

Contact details of the center in Düsseldorf are directly available at:
http://www.uniklinik-duesseldorf.de/unternehmen/kliniken/frauenklinik/ 

There are special contracts between these centers and the health insurance companies concerning reimbursement of the costs for an interdisciplinary consultation, and, if applicable, for extensive genetic tests for identification of BRCA mutations.

The German Consortium of Hereditary Breast and Ovarian Cancer (GCHBOC) urgently advises against so called "direct-to-consumer" tests which are offered for example in the USA because there is no neutral non-directive counselling of the patients and such tests are usually focusing on frequent BRCA mutations (i.e., rare mutations can be overlooked resulting in a false negative test result).
In other words, Germany likes to regulate. Why? The reasons given fall into one of two categories:
(1) Paternalism, as in doctors feel they are better qualified to receive and give information. They don't want patients to receive information that may lead to decisions doctors find unwise. 
There are always people who jump out a window or arrange for a body part to be removed when they get medical information they don't like. But that unhappy fact should not determine social policy. Just because some women choose prophylactic mastectomies doesn't mean that genetic testing should be restricted.
(2) Protectionism. Labs make lots of money selling tests. They'd make less money if companies like Color Genomics, 23andme,  Invitae . . . oh, there are others, too . . . were in on the game. 
So what's a girl with breast cancer who wants answers to do? Make an appointment with Dr. So-in-So at Hotshot hospital in New York. That's what.  

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