Reimbursement for DNA testing!

We all know that a cure for VHL will come through research. There are two essential ingredients needed to promote research: money and biomaterials.

Biomaterials

So what are “biomaterials”?  Biomaterials are biological materials from people we need to study – not just tumors that have been surgically removed, but also blood and urine samples – any biological materials that have the DNA characteristics of the people we need to study.  In our case, this means biological materials from people with VHL.

Traditionally we have referred to the storage of such materials as the “Tissue Bank”.   But it’s really become a “BioBank”.  In fact we need to shift our thinking – it’s not just about “tissue” it’s also about blood and urine, even spit! – any biological substance that might be of help to research.

Here’s one example.  You know that when you go to your general doctor for a checkup, they ask you to pee in a cup.  They put a little dipstick in it to measure certain chemicals in the urine.  In fact there are simple urine dipstick tests for pregnancy, urinary tract infections, blood or protein in the urine, or other abnormalities that may indicate the need for further testing. 

Wouldn’t it be great if there were a dipstick test for kidney cancer?  Or a blood test?  And that would not only benefit people with VHL, it would benefit all people.  Most people in the general population who get kidney cancer are diagnosed late, when the cancer has already spread. 

In order to create a urine test or blood test that might indicate the level of kidney cancer, researchers need to evaluate what chemicals are in higher or lower supply in the urine and blood of people who have kidney cancer, and figure out which measurements coordinate with the “burden of disease” -- the total volume of kidney cancer tumors -- this patient currently has.  With a measure like that, we might be able to tell who needs to have a CT, or whether a treatment for kidney cancer is making the tumors shrink.

That is only one of the many kinds of research that can be conducted using blood samples, urine samples, and tumor tissue removed during surgery – all those precious biomaterials that only you can provide.

DNA Testing and Biomaterials

Increasingly the researchers who inquire at our BioBank are asking for biomaterials from people with a particular genotype – for example, tumor tissue from people whose mutation is in codon 2 of the VHL gene.  Up to this point, we have not been able to answer this question, because we usually do not have DNA mutation information in the medical data that accompanies the samples.

Here’s where you come in.  May we please partner with you to add DNA information to the bank?
To help you get the DNA information that will move research forward, we are offering you an incentive payment.  You don’t have to be a member of VHLFA to participate -- but of course we hope you will join and help to sustain this and all our other programs!
You will find the details of the reimbursement program on page 3.

Help for you – Help for us all
Together we can cure VHL!
Thank you!

Our goal is to help you help all of us.  You will get the information you need to manage your own health, and you will also be making a priceless investment in your future health, the health of your family, and the wellness of all people with VHL.

DNA Testing Reimbursement -- Here it is!

$100 to register.  Anyone U.S. resident who registers** with the VHL BioBank at NDRI before December 31, 2008, or who has already registered with the VHL BioBank at NDRI, may claim $100 toward the cost of DNA testing if they will please deposit a copy of their DNA testing report with NDRI.  Request certification from NDRI that your registration is in order, and submit this to VHL for reimbursement.

Up to $400 to defray DNA testing costs.  Any U.S. resident who registers** with the VHL BioBank by December 31 and has not already gotten DNA testing, will receive a coupon from NDRI good for half their out-of-pocket lab cost of DNA testing, up to $400, whichever is less.  In order to redeem this coupon, we will need to see a copy of their bill for lab testing, and they will need to deposit a copy of their DNA report with NDRI.  Request certification from NDRI that your registration is in order, and submit this to VHL for reimbursement.

Already registered?  Any U.S. resident who has already donated tissue to the BioBank can claim their coupon by depositing blood and urine and a copy of their DNA report by December 31.  Request certification from NDRI that your registration** is in order, and submit this to VHL for reimbursement as described in 1 or 2 above.  As long as your DNA report is on file, you do not need your lab bill for this reimbursement.

** Registration means depositing blood and urine samples as well as completing the appropriate paperwork with the BioBank.  Detailed instructions will be provided by NDRI.  All information is kept in a “depersonalized” manner, and confidentiality is overseen by the IRB at the University of Pennsylvania.  Your name will never be associated with any samples you file with NDRI.  VHLFA does not need to see a copy of your DNA report; we only need confirmation from NDRI that it has been filed in their confidential files. 

Once you have completed this registration, you are in position to donate tissue removed in any future surgery with one simple phone call – just call the bank to advise them of the date of the surgery and the name of the surgeon, and they will make all arrangements from there.  Because your DNA information is on file, all tumor tissue you donate will be accompanied by the DNA mutation information, which makes it even more helpful to research.

Only by working together can we find a cure.

Please help all of us improve diagnosis, treatment, and quality of life for all people with VHL.

This is a pilot program.  During this pilot phase, it is open only to residents of the United States and only until December 31, 2008.  At the end of this year we will reassess the program to determine whether it is meeting its goals.  At that point we may revise the program, end it, or extend it.
We will appreciate your help and feedback throughout the next six months.

A few commonly asked questions

Who will do the DNA testing?  You should meet with a genetics professional near you to draw the blood and submit the test.  We strongly recommend you send the blood to the Children’s Hospital of Philadelphia for testing, especially if this is the first test in your family, as they do the most thorough test.   Please direct the doctor to vhl.org/dna for details.

Will it hurt?  DNA testing involves drawing blood, so there may be some discomfort associated with the needle stick.  A professional phlebotomist is usually best skilled.  Talk with your doctor.

Can’t I just do a cheek swab?  Unfortunately a cheek swab does not get enough information to find most families’ mutations.  It would not be sufficiently accurate for research.

The lab costs are not all the costs associated with DNA testing.  Who pays for the counseling and the doctor’s visit?  You or your insurance company would need to cover those costs.  We will see how many people sign up, and whether we are able to get an additional grant by the end of this year.  Please provide feedback for us to consider.

To register, please call NDRI Rare disease hotline 877-221-6374

Questions? Call Ranjana 1-800-767-4845 ext 4, or write to bank@vhl.org -- Thank you! 

As printed in the VHL Family Forum 16:2, May 2008. For permission to reprint, please contact VHL Family Alliance, editor@vhl.org.