Hello all - I am a member of the HHS Secretarys Advisory Committee (we are not federal government employees contrary to rumor) and we learned today that the MPS1 vote will occur at our next meeting (mid Feb). The good news for ALD is that although it has been in progress for awhile, with MPS1 review finished, we will be able to move full bore on the ALD review. NYs data will help us tremendously. And there are no other reviews to compete at the present time. There will also be an ALD review update at this meeting. The other good news/bad news is that the Newborn Screening Saves Lives Act was finally re-authorized and signed into law by President Obama. We all really wanted this, and discontinuation of funding last year forced us to stop working on the review which is why weve had such a long delay. Also youll be happy to hear in the new law there will be timelines in which the reviews must be completed. And now for the bad news. At the very last minute, Michele Bachmann, Republican representative from MN, most likely at the urging of a crusader against newborn screening and valuable research on the residual blood spots which are so precious for developing new tests for new disorders, made an impassioned plea to add an amendment that forbids all research on the leftover blood spots, declares any use of the spots outside of the actual NBS test to be research (even when its not) and apparently now believes she is a geneticist because the amendment also states that the DBS which can have DNA extracted from it, is a personally identifiable source so her whole argument is about privacy. This is of course a fallacy and why politicians who are not scientists should stop pretending to be so. A blood spot sample, or any DNA sample (which could be taken from hair, finger prints, etc besides the NBS) is NOT identifiable in the absence of a second sample to compare it with, which of course we do not have in Newborn Screening. To put it in terms that even Michelle Bachmann might understand, there is no gene for name, address, or SSN, trust me. But it was a dirty last minute deal when both houses had previously passed a version without this amendment. Please forgive my introductory diatribe but this is why this is so important and we have no stronger supporters of research and test development than parents of affected children and hope that we will have yours.. The amendment also calls for an informed consent at the hospital to permit anonymous deidentified research on blood spots. We have always required informed consent from parents to do anything with identified samples. This will be a huge problem as we learned in the past when consents are required at the hospital: 1. Many hospitals will refuse to present and take the consent. they will say they have neither time nor staff. When California conducted a consented study on a new methodology development, only 50% of the kids benefitted front the screening because the hospital staff didnt offer it. Even more sadly a newborn with a very serious genetic disorder was not screened because no one offered the parents the test or consent. He is now completely neurologically impaired, cant speak, and is confined to a wheel chair. The parents have said the would absolutely have had the test if they had been informed. Make no mistake, the consent requirement and human error inherent in the consent process caused this horrible tragedy. Privacy is not the enemy to a childs health here - the consent process is. There is a touching story about this called Tale of Two Zacharys printed in the WSJ, as another child during that project also had the same rare disorder but was screened and is a happy healthy functioning young man of about 12 yrs. Ironically, his name is also Zachary, and the two Zacharys were the only cases of this rare disorder born during this period among approximately 350,000 newborns. 2. new test development. were it not for the availability of these leftover spots, scientists could not have perfected or even developed perhaps tests for approximately 40-45 disorders now on the standard panel, including the screening test for MPS1 which was only able to continue when California stepped in to send 100,000 anonymous spots to Mayo clinic to develop their test which can detect most of the LSDs, ALD, Wilsons Disease and more. Add to that SCID the most recent disorder to be added to the standard panel. Ironically, CA had to step in because in Minnesota, the group led by the woman behind Michelle Bachmans amendment sued the MN Dept of Health over storing and performing anonymous research and test development (again on privacy grounds being totally unaware of the privacy protections we take, or the inability of a single blood spot to identify a person). She lost at every court level until the MN Supreme Court unexpectedly reversed the lower courts ruling, and millions of valuable DBS had to be destroyed. Then the same occurred in Texas, with 5 million spots destroyed. If something cant be done, we may never be able to develop another new test and we may have to stop adding disorders to NBS because there is no screening test. That would truly be sad for a program that has saved so many lives and so much heartache. 3. Its not that simple. NBS is a process and a system. there is a fine line between routine screening for mandated disorders and research. these spots are essential for labs to run their quality control on the equipment to avoid missing cases or having too many false positives. this would be considered research. Sometimes though rarely two babies samples may get mixed up. If one has a disorder and their has been a mixup we will learn during the diagnostic testing this is probably a specimen mixup and we have to locate the unidentified baby who does have a disorder. In order to determine this, we have to do identity testing. that would be considered research. Remember they want you parents to sign or refuse the consent right after birth before you even know if you have an affected child or not. So say you signed no to research then, and 2-3 weeks later you find out the terrible news and you might have made a different choice if you had had that information. but that spot will be gone, destroyed. Coroners often call us for a spot after an unexplained death and there is no other tissue available to test other than this precious little spot. there are many other valuable uses but I will save that for another time. I apologize for this much too long description but it is so important. No one in newborn screening, no physicians even as far as I know, let alone geneticists got to weigh in and educate these politicians. March of Dimes tried to have input, but was misled on what the definition of research would be. No, Michelle Bachman and several other sadly misinformed politicians on the right took it upon themselves to make these dangerous decisions. The law has been signed. Its too late to fix that now. We need to put pressure in other areas to correct this horrible mistake. As you know New York and CT started ALD screening this year. They are fortunate to have top scientists with the capability to develop an ALD test in house with the aid of the researchers before them. But they are an exception. ALD came to prominence and the committee in record speed, but unfortunately there is currently no commercially available test for ALD with the capacity and automation to run all newborns for ALD. Private vendors are working on test development as we speak, as most states require a commercially available and in some cases an FDA approved test. But guess what they need to complete development, test and evaluate their test? yes those precious blood spots. If this amendment goes into effect quickly, it could prevent California, a key player in test development with private vendors, from providing the spots. So make no mistake - this could affect all of you directly just when you are so close to achieving your goal. But let me add on a happy note. You all got your nomination in and is being reviewed. A screening test was developed with these precious spots, and the ALD review should proceed rapidly now. If the companies working on the test are not stopped, a commercial kit will be available hopefully in a year or two, hopefully the former. As many of you know, the public may attend the meeting in special area apart from the Committee table, and although the public may not interrupt the Committees discussion, there will be several opportunities for public input at the microphone. In closing I would ask two things of you. 1) Dont be shy about speaking up in public comment, but please try to be respectful to the committee members. we have real jobs of our own, volunteer our time because we care, in the case of the 5 of us from the west coast, HI and AK, travel coast to coast for a day and a half meeting, and are passionate about newborn screening. Secondly, because I am a voting member of the Committee, please avoid contacting myself or other committee members about the ALD review individually as we must take care to remain impartial. Aside from the public comment during the meeting, if you need to contact the Committee at other times, please contact Deb Sarkar first and Dr. Joseph Boccini, Committee chair, if you have further questions. Best of luck to all of you. Fred Lorey
Posted on: Wed, 24 Dec 2014 16:22:03 +0000
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