Max G. Bronstein Senior Director, Advocacy & Science Policy NEWBORN SCREENING WEBINAR

Transcription

1 Max G. Bronstein Senior Director, Advocacy & Science Policy NEWBORN SCREENING WEBINAR 1

2 Newborn Screening is not New First screen developed: test for phenylketonuria (PKU) late 1950 s Research demonstrated that early detection and alteration of diet could save lives All states screen for PKU Most newborn screening is done via heel prick 2

3 Wide Variation in Testing! Slide courtesy of APHL 3

4 Sibling Study of MPS VI Sib yrs old Treatment From Birth Sib 1 7 yrs old Treatment from 3 yrs old

5 Improved Spine If Treated Early at Birth 3 years of treatment from age 3 or birth 3 y.o. Sister Newborn Brother

6 Adrenoleukodystrophy (ALD) 6

7 Newborn Screening Saves Lives & Money Early detection and treatment can help avert costly medical procedures (e.g. hospitalizations and surgeries) E.g. 1 spinal fusion surgery can cost around $100K In the U.S. states spend millions to provide mental health services to children In California, every $1 spent on screening = savings of $9.32* *Feuchtbaum L, Cunningham G. Economic evaluation of tandem mass spectrometry screening in California. Pediatrics 2006;117:

8 Meanwhile, at the Federal level 8

9 Advisory Committee: Additions to the Recommended Uniform Screening Panel (RUSP) 9

10 Criteria for inclusion on the RUSP The condition should be an important health problem. There should be a treatment for the condition. Facilities for diagnosis and treatment should be available. There should be a latent stage of the disease. There should be a test or examination for the condition. The test should be acceptable to the population. The natural history of the disease should be adequately understood. There should be an agreed policy on whom to treat. The total cost of finding a case should be economically balanced in relation to medical expenditure as a whole. Case-finding should be a continuous process, not just a "once and for all" project. 10

11 Getting Your Disease Listed on The RUSP Submit Nomination Package Committee recommends forming multidisciplinary team (researchers, clinicians, patients etc.) Complete a nomination form with supporting scientific and clinical data 11

12 The Process in a Nutshell Nominate a disease -> Considered by Committee -> Committee Recommends Addition to Secretary of HHS -> If Accepted, Disease is Added to the RUSP Timing: On average, it takes almost 4 years to add a disease to the RUSP States take up to 8 years to actually begin screening 12

13 New Additions: MPS 1 X-ALD Potential Diseases to be added in the future: Duchenne Muscular Dystrophy MLD Additional MPS diseases Batten s Disease You can find the full list at ory/heritabledisorders/recommendedpanel/ 13

14 What the RUSP Provides Generate a list of disorders that they recommend be screened for Current recommendations: 34 core disorders and 26 secondary They will only recommend diseases that have an existing treatment, but not restricted to treatments for underlying cause of disease 14

15 Questions and Discussion 15

16 Newborn Screening in California 16

17 California Screens 540,000 newborns each year for all but TWO of the RUSP conditions.: Pompe MPS I Both have had FDA-approved therapies for over a decade Has 5 public health laboratories currently using MS/MS of dried blood spots In 2014, passed bill screening for Adrenoleukodystrophy (ALD) when added to the RUSP 17

18 SB 1095 Introduced by State Senator Richard Pan Pediatrician who authored lifesaving ALD and SCID newborn screening legislation

19 SB 1095 Would allow state to screen for a disease as soon as it is added to the RUSP Would eliminate legislative delay in screening Can take up to eight years before a state begins screening for a disease after its added to the RUSP No need to pass new legislation for every disease Takes scientific approach instead of political Would allow for earliest treatment possible, saving many patients lives

20 SB 1095 Must pass two committees in each house: Health APPROPRIATIONS Need economic data to show that screening for MPS I and Pompe will save the state money

21 SB 1095 Some of the ways newborn screening can save the state money: Search for diagnosis Surgeries Hospital stays Developmental care Mental health

22 Thank you for your support! EveryLife Foundation for Rare Diseases The MLD Foundation The National MPS Society Acid Maltase Deficiency Association (AMDA) The Ryan Foundation Angels for Life Foundation Coalition Duchenne Sanfilippo Foundation for Children Parent Project Muscular Dystrophy Vanishing White Matter Disease Jonah s Just Begun Foundation to Cure Sanfillipio Global Genes Aidan Jack Seeger Foundation Reflex Sympathetic Dystrophy Syndrome International Pemphigus & Pemphigoid Association Foundation LAL Solace, Inc. Fabry Support & Information Group Wired4Life The RASopathies Network Lysosomal Disease Network The Myelin Project Hunter Syndrome Foundation California Academy of Physicians Assistants Grace Science Foundation National PKU Alliance Taylor s Tale The Mastocystosis Society Drew shope Research Foundation The XLH Network, Inc. Noah s Hope Lupus and Allied Diseases Association Hope4Bridget Team Niemann-Pick Type C Batten Disease Support & Research Association Leukemia Lymphoma Society Brian s Hope Bridge the Gap SYNGAP Education and DiMedio Foundation for Children Research Foundation and your organization!

23 Important Upcoming Dates March 17 th -28 th : Spring Recess April 22 nd : Last day for SB 1095 to be heard in Senate Health Committee May 27 th : Last day for SB 1095 to be heard in Senate Appropriations Committee June 3 rd : Last day for Senate Floor vote July 1 st : Last day for SB 1095 to be heard in Assembly Health Committee July 1 st -August 1 st : Summer Recess August 12 th : Last day for SB 1095 to be heard in Assembly Appropriations Committee August 31 st : Last day for Assembly Floor vote September 30 th : Last day for governor to sign or veto

24 How YOU can help Help provide case studies of the benefits of late vs. early treatment OR bit.ly/1rk4hfr Join the sign-on letter, currently over 30 endorsing national patient organizations Share this link with your networks

25 How YOU can help If you or your organization are based in California: Write letters to your state senators and assembly members Come to Sacramento and support SB 1095 in person!

26 How to get more involved Join the Community Congress Newborn Screening Working Group Patient organizations can become members to work with industry leaders and other stakeholders to Provide strategic input Help with grassroots strategies Work toward a state advocacy toolkit

27 How to get more involved Join the Community Congress Newborn Screening Working Group Our goal is to pass similar legislation in other states with input from the Newborn Screening Working Group

28 Thank you to the Newborn Screening Working Group Co-chairs: Kristine Caalim (Zeqing for a Cure) & Jay Greissing (Shire) Acid Maltase Deficiency Association Adrenal Insufficiency United Aeglia Biotherapeutics Aidan Jack Seeger Foundation American Behcet's Disease Association Audentes Genzyme Hunter Syndrome Foundation Jonah's Just Begun MLD Foundation National MPS Society Parent Project Muscular Dystrophy Pediatric Hydrocephalus Foundation SBTSF Sanfilippo Foundation for Children The Myelin Project United Leukodystrophy Foundation

29 Thank you to our sponsors! Contact us to join as a Newborn Screening Sponsor!

30 Questions? Contact Information: Vignesh Ganapathy Associate Director of Advocacy and Government Relations EVERYLIFE FOUNDATION FOR RARE DISEASES 77 Digital Drive Suite 210 Novato, CA Office: Fax: