NEONATAL SCREENING FOR CYSTIC FIBROSIS. PAST AND FUTURE. Pilot Study and RECENT INFORMATION EVA PCMA vzw Antwerp-Belgium.

Size: px
Start display at page:

Download "NEONATAL SCREENING FOR CYSTIC FIBROSIS. PAST AND FUTURE. Pilot Study and RECENT INFORMATION EVA PCMA vzw Antwerp-Belgium."

Transcription

1 NEONATAL SCREENING FOR CYSTIC FIBROSIS. PAST AND FUTURE. Pilot Study and RECENT INFORMATION EVA PCMA vzw Antwerp-Belgium.

2 F. Eyskens, MD, PhD 1,2 1 UZA, 2 PCMA vzw, Antwerp, Belgium

3 Neonatal Mass Screening in Flanders from 01/01/2012 Ministry of Health of the Flemish Community PCMA vzw VCBMA newborns screened/lab/year newborns screened/lab/year

4 Phenylketonuria/Hyperphenylalaninemia (1968) Congenital Hypothyroidism (1981) Congenital adrenal hyperplasia (2003) Biotinidase deficiency (2007) MCADD, MADD, MMA, PA, GA1, IVA, MSUD (2007) Proposed selective screening Galactosemia New pilot screening programs: Lysosomal Storage Diseases Proposed mass screening program Duchenne Muscular Dystrophy (stop 2012; approval needed) Doctoral thesis university of Antwerp 1997 * Pilot study from 1 may april 2004, implemented in Flanders Screening Program from January 2007 Cystic Fibrosis IRT (stop: 2003)

5 CRITERIA for Screening Programs (WHO: Wilson & Jungner) Important health problem Asymptomatic stage in natural evolution Accepted treatment for patients Parents are in favour to screen for «untreatable disease(s)» Secondary prevention by genetic counseling and prenatal diagnosis Facilities for further diagnosis Suitable test available: simple, reasonably priced, repeatable, sensitive, specific, acceptable Natural history of the disease is well known Screening should be a continuous process

6 Verdeling van de verschillende diagnoses gesteld met de neonatale MASSASCREENING in de provincie Antwerpen (percentueel jaarlijks aandeel). PKU BIOT CAH PKU CH CAH Duchenne Biot.def. DUCHENNE CH

7 Congress Caen Prof. G. Travert Results: Brittany, France East Anglia, UK Antwerp, Belgium

8 IRT SCREENING Crossley et al, 1979 Pancreas enzyme precursor; spill over in blood due to obstruction of pancreatic ductuli Increased in blood in case of: CF Perinatal stress Renal insufficiency Trisomie 13 Methods: ( : RIA Gnost Trypsin test) : AGEN trypsinogen Neoscreen : Delfia-IRT

9 METHODOLOGY ImmunoReactiveTrypsin(ogen) test: Delfia IRT: Best screening test available in blood spots Intra-assay VC%: 3.9; Interassay VC%= 7.1* Best reproducibility *validity for values of 70 ng/ml (cut-off value).

10 METHODOLOGY: PROBLEMS Calibration watery solutions delivered with the kit Every kit (different lot numbers) had to be evaluated while the cut-off value changed so that 97th centile values for age should be used instead of absolute values as cut-off IRT calibrators in blood spots are instable, even when stored at 20 C IRT levels in blood spots are influenced by storage

11 CUT-OFF VALUES FOR THE INTERPRETATION OF IRT LEVELS The decline or IRT values with age was studied in 102 infants with an initial IRT value above the 97th centile of age and in whom repeat samples were obtained after 14-20, and days By plotting the log of the geometric mean values again the log of the mean ages of repeat testing, a straight line was obtained with the following regression equation: y= logx (r-0.98)

12 IRT SCREENING VOOR CF: COMPARISON OF INITIAL AND FOLLOW-UP VALUES IN CF PATIENTS AND FALSE POSITIVES.

13

14 IRT SCREENING: RESULTS Total number screened ( ): 372,674 CF patients found: 92 Prevalence: 1:3,900 (95th confidence interval: 1:2,900-1:4,800) False positives: 2;445 ( %) False negatives: 8 (Delfia: 6) Sensitivity (%): 92 (Delfia: 87.2) 87% in Wisconsin using the IRT/IRT screening approach Specificity (%): 99.3 Positive predictive value: 3.6 % Negative predictive value: 99.99%

15 IRT SCREENING: PROBLEMS Only serum calibrators available Stability of IRT (storage at +4 C)- Thermolabile IRT component High false positive rate-cut-off? Relative high false negatives Not all patients are found!

16 THE RATE OF FALSE NEGATIVE RESULTS WOULD NOT BE ACCEPTED IF CF SHOULD BECOME A TREATABLE DISEASE. WHAT ABOUT CARRIER DETECTION?

17 RESULTS OF DNA ANALYSIS Homozygote for F 508: 61% Heterozygote for F 508 and another known mutation: 12% Heterozygote for F 508 and an unknown mutation: 12% Heterozygote for another known mutation: 3% No mutation found: 12%

18 WISCONSIN CF SCREENING PROGRAM IRT testing alone: sensitivity: 87% IRT/ F 508: sensitivity: 92% IRT/ multiple (25)mutation analysis: sensitivity: 99%

19 CF screening USA

20 CF screening USA Two-tier screening strategy: screen for several different mutations: 15?-30? LESS or MORE??

21 CF screening Switzerland Dtsch Arztebl Int 2013; 110(20):

22 FAILSAFE

23 INFLUENCE OF STORAGE AT 20 C DURING 1 MONTH ON IRT LEVELS Age Nr Before After P value µ: 82 (68-133) µ: 47 (28-131) µ: 36.5 (11-70) µ: 30 (17-58) µ: 80 (53-127) µ: 49 (26-99) µ: 36 (11-71) µ: 31 (11-71) < <P< <P< <P<0.5

24 THERMOLABILE IRT COMPONENT Literature: IRT immunoasay detects several forms of trypsinogen isoenzymes and trypsin Dhondt et al: the decline of IRT with age is different in CF patients compared to patients with persistent hypertrypsinemia Our finding: Thermolabile IRT component present in blood spots taken the first 10 days of life seems to be specific for CF

25 THERMOLABILE IRT COMPONENT Literature: IRT immunoasay detects several forms of trypsinogen isoenzymes and trypsin Dhondt et al: the decline of IRT with age is different in CF patients compared to patients with persistent hypertrypsinemia Our finding: Thermolabile IRT component present in blood spots taken the first 10 days of life seems to be specific for CF Recall: +IRT, no mutation found IRT cutoff >45 ng/ml; 6.6 % of positives IRT cutoff>50 (60)ng/mL; 1.7% of positives

26 Switzerland IRT/DNA (7 mutations) Results of one-year evalutation

27 Comparison: Switzerland IRT/DNA)- Antwerp IRT/IRT Total number screened (2011): 83,198 Cut off IRT: P99.2 CF patients found: 30 Prevalence: 1:3,600 False positives: 54 (617 IRT only)(0.65%) False negatives: 1 Sensitivity (%): 96.8 Specificity (%): 99.9 Positive predictive value: 36 % Total number screened ( ): Cut off IRT: P97 CF patients found: 92 Prevalence: 1:3,900 (95th confidence interval: 1:2,900-1:4,800) False positives: ( %) False negatives: 8 (Delfia: 6) Sensitivity (%): 92 (Delfia: 87.2) 87% in Wisconsin using the IRT/IRT screening approach Specificity (%): 99.3 Positive predictive value: 3.6 %

28 Commonest CF gene mutations; Belgium-Switzerland F508del 3905insT G542X R553X W1282X G>A N1303K F508del G542X R553X W1282X G>A N1303K G>A (R117H) S1251N G>A

29 Information given to parents! GEINFORMEERD KIEZEN/ INFORMED DISSENT Explicit parental consent is not necessary for mandated public health newborn screening, if the asssay used meets the following criteria: Analytically and clinically validated Clinical utility is documented Treatment is available to prevent or reduce adverse outcome of condition (ref.: Good Laboratory Practices for Biochemical Genetic Testing and Newborn Screening for Heritable Diseases. CLIAC Meeting February 9-10, 2010,USA; gepubliceerd document door B. Chen, CDC, Atlanta, USA ).

30 CF screening in Switzerland: opting-out screening strategy Even when DNA analysis is performed: Explicit parental consent is not necessary DNA results obtained in the sceening center are NOT communicated to the CF reference centers

31 Improving early diagnostics, diagnosis and start of treatment by CF screening (Switzerland): Before NBS: From birth to genetically confirmed diagnosis of CF: 198 days (range: ) After NBS was implemented: From birth to genetically confirmed diagnosis of CF: 34 days (range: )

32 CF diagnosis in Belgium (without newborn screening) 59%

33 KCE report 132B (2010): Should we screen for cystic fibrosis in Belgium?

34 IRT D Report: CF not suspected IRT < 99.5th centile IRT >99.5th centile 600 * No consent for DNA analysis DNA analysis (commercial kit) * 60 (10%) ± (90%) Two CF mutations * One CF mutation * No mutation detected * F508del/ F508del Other IRT D3 < 99.9th centile Report: CF not suspected IRT D3 >99.9th centile IRT D21 > 40 µg/l IRT D21 ** IRT D21 < 40 µg/l ± 90%? ± 10%? [Cl-] (mmol/l) < <30 SWEAT TEST CFTR gene sequencing * * i) Results will have to be available within 3 weeks. ii) In order to limit the number of equivocal cases, R117H and several other mutations will not be reported, depending on what will be known from the CFTR2 project on their impact on CFTR function (cut-off percentage of activity to be determined). iii) In vitro characterization of the impact of the very rare mutations that are not described in the the CFTR2 database to be considered. ** if not controlled at D30 (recall failure), perform a sweat test.

35 In order to be efficient and fluid, most information between labs, CF centres and the supervising structure will be transmitted in electronic form. M a t e r n i t y Midwife - blood sampling - consent for DNA testing Paediatrician Refer for sweat testing Supervising structure NN Screening labs (6) «CF suspected» Contact the pediatrician within 1 month and provide him (her): - the list of hospitals accredited for the sweat test - the list of the 7 accredited CF centres Department of Genetics * Complete - very simple screening cards when «CF not suspected» - detailed screening cards in other cases Send them to the supervising structure Confirm to the competent Community Institution that payment is due to the NN screening lab for «n» analyses Competent Community Institutions 2 mutations 0-1 mutation Belgian CF Registry Other lab accredited for the sweat test Sweat Chloride < 30 mmol/l Sweat Chloride 30 mmol/l - confirm (or not) the diagnosis a(within a short delay) - proceed to further investigation as needed - start treatment (if indicated) - provide genetic counseling (as indicated) Accredited CF centres (7) * The link between each NN screening lab and a Department of Genetics shoud be fluid and tight. This is straightforward in the French Community (3 Universities each including in one place a NN screening lab, a Department of Genetics and an accredited CF centre). Things will be more complicated in the other Communities.

36 Supervising structure Pulmonologists ABLM-BVSM 1) Coordinate information about the program Paediatricians Medical literature, congresses 2) Continuous process towards algorithm s improvement Acredited CF centres Others (GP, fertility clinics ) Complete screening cards and transmit them to the supervising structure: Include detailed feedback if indicated: - sweat test (where? Results?) - final diagnosis (which? where?) - other NN Screening lab In case of «CF suspected», contact the CF centre to make sure that extensive information is available 3) Collect and manage the full sets of data (database) Confirm to the competent Community Institution that payment is due to the NN screening lab for «n» analyses Competent Community Institution Payment for: - x IRT dosages - y DNA analysis Competent Community Institutions Medical Committtee of ABLM-BVSM NN Screening labs Accredited CF Centres Belgian CF Registry 4) Publish annual results Accredited CF centres 5) Collect information about false negative Other Sweat test 6) Ensure external quality control IRT DNA testing

37 NN Screening Labs (n:6) M a t e r n i t y Midwife - blood sampling - consent for DNA testing 2) - Organize ASAP DNA testing if indicated 3) - Classify the results of the screening process and - Notify before Day 30 CF not suspected Internal quality control 1) - Perform IRT dosages (Day 3-5 & 20 if indicated) Very simple negative screening card Internal quality control DNA testing Department of Genetics No sample received Detail Failure to recall Detail IRT2 > Day 20 Detail + data about the sweat test (where? Results?) Supervising structure Negative screening card CF suspected Contact the pediatrician within 1 month and provide him (her): - the list of hospitals accredited for the sweat test - the list of the 7 accredited CF centres Include detailed feedback about sweat testing (where? results?) and referral (where? Conclusions?) Positive screening card Paediatrician M a t e r n i t y 4) Forward payment for DNA testing from competent Community Institution to the Department of Genetics

38 NN Screening lab Accredited centres (n:7) CF suspected 1) Provide expertise in sweat testing Internal quality control Sweat Chloride < 30 mmol/l Other lab accredited for the sweat test Sweat Chloride 30 mmol/l 2) - confirm (or not) the diagnosis (within a short delay) - proceed to further investigation as needed - start treatment (if indicated) - provide genetic counselling (as indicated) Belgian CF Registry M a t e r n i t y 2 mutations Paediatrician Refer for sweat testing 0-1 mutation 3) Provide any additional information requested by the - NN screening lab or - the supervising structure

39 Pancreatitis-Associated Protein (PAP) has been reported to be elevated in newborn infants with CF Sarles et al I Pediatr. 147, Pancreatitis-associated protein (PAP)- a screening marker for CF? A lectin-related secretory protein present in small amounts in normal pancreas and over expressed during the acute phase of pancreatitis. In animal models PAP is constitutively expressed in the intestinal tract, but not in other tissues. PAP mrna could not be evidenced in liver, stomach, salivary glands, brain, kidney or testis. Its pattern of expression during severe pancreatic aggression suggests that it might be a stress protein involved in the control of bacterial proliferation. PAP has been suggested to be a marker of pancreatic sufficiency in individuals with CF

40 J Pediatr Sep;147(3): Combining immunoreactive trypsinogen and pancreatitis-associated protein assays, a method of newborn screening for cystic fibrosis that avoids DNA analysis. Sarles J, Berthézène P, Le Louarn C, Somma C, Perini JM, Catheline M, Mirallié S, Luzet K, Roussey M, Farriaux JP, Berthelot J, Dagorn JC.

41 The benefit of the integration of the PAP test in the algorithm is still under study. This test might have the potential to further reduce the number of DNAanalyses that are required, and thus to reduce the number of detected healthy carriers and equivocal mutations.

42 The Addition of Pancreatitis Associated Protein (PAP) in a Two-Tier IRT/DNA Screening Strategy for Cystic Fibrosis is Less Effective in Programs that Screen at 48 hours of Age. Enzo Ranieri Biochemical Genetics Head South Australian Neonatal Screening Centre Directorate of Genetic and Molecular Pathology Women s and Children s Hospital Campus, Adelaide SA Pathology, South Australia, Australia DANGER: false-negatives increase! Screening-Symposium

43 KCE report 132B: Should we screen for cystic fibrosis in Belgium? Yearly: 15,000 DNA mutation analysis of CFTR gene Carrier detection; prenatal diagnosis Costs: around 5,000,000 euro 6500 sweat tests We can screen the entire newborn population for 5 years with that budget.

44 Conclusion 1 Proposed Screening strategy: IRT/DNA Swiss model: second tier DNA: non-diagnostic; limited number of mutations (panel of 6-7): Failsafe measurement? Recall IRT? Highest IRT (>99.9%) without mutation

45 Conclusion 2 False-negatives remain! False-positives-carriers: Reference centers CF: Good psychosocial support INFORMATION to the parents of the screening perinatal-prenatal Oral information > Written information Good communication between the different actors: screening labs, reference centers CF, dept of medical genetics, pediatricians (caring physicians)

46 Conclusion 3 Screening strategy and process should be evaluated periodically and adjusted when and where necessary

Multi-Center Feasibility Study of a Neonatal IRT-PAP Screening Concept for Cystic Fibrosis

Multi-Center Feasibility Study of a Neonatal IRT-PAP Screening Concept for Cystic Fibrosis Multi-Center Feasibility Study of a Neonatal IRT-PAP Screening Concept for Cystic Fibrosis Participating Sites: Wisconsin State Laboratory of Hygiene, USA Gary Hoffman New England Newborn Screening Program

More information

Newborn Screening for Cystic Fibrosis in Switzerland - Evaluation after two years

Newborn Screening for Cystic Fibrosis in Switzerland - Evaluation after two years Newborn Screening for Cystic Fibrosis in Switzerland - Evaluation after two years R. Fingerhut, T. Torresani, S. Gallati, M.H. Schoeni, C. Kuehni, C. Rueeg, M. Baumgartner, J. Barben and the Swiss CF Screening

More information

Newborn Screening for Cystic Fibrosis

Newborn Screening for Cystic Fibrosis Newborn Screening for Cystic Fibrosis Three States Experience with IRT/IRT/DNA Marci Sontag PhD, Norm Brown, Dan Wright, Art Cowes, Rachel Lee, Susan Tanksley Colorado School of Public Health and Children

More information

Improving test properties for neonatal cystic fibrosis screening in the Netherlands before the nationwide start by May 1st 2011

Improving test properties for neonatal cystic fibrosis screening in the Netherlands before the nationwide start by May 1st 2011 J Inherit Metab Dis (2012) 35:635 640 DOI 10.1007/s10545-012-9452-7 SSIEM SYMPOSIUM 2011 Improving test properties for neonatal cystic fibrosis screening in the Netherlands before the nationwide start

More information

TIMELINESS IN NEWBORN SCREENING: CONSIDERATIONS FOR CYSTIC FIBROSIS

TIMELINESS IN NEWBORN SCREENING: CONSIDERATIONS FOR CYSTIC FIBROSIS TIMELINESS IN NEWBORN SCREENING: CONSIDERATIONS FOR CYSTIC FIBROSIS Susanna A. McColley, MD Northwestern University Feinberg School of Medicine Ann & Robert H. Lurie Children s Hospital of Chicago Stanley

More information

Pediatrics Grand Rounds 13 November University of Texas Health Science Center at San Antonio. Learning Objectives

Pediatrics Grand Rounds 13 November University of Texas Health Science Center at San Antonio. Learning Objectives Nationwide Newborn Screening for Cystic Fibrosis: Finally Creating an Opportunity for All Patients to Have Better Outcomes Philip M Farrell, MD, PhD* University of Wisconsin-Madison *No disclosures other

More information

An Effective Model to Communicate Complex Genetic Information to Families and Health Care Providers

An Effective Model to Communicate Complex Genetic Information to Families and Health Care Providers An Effective Model to Communicate Complex Genetic Information to Families and Health Care Providers Theresa Steckel, RN, BSN Newborn Screening Quality Assurance and Education Coordinator Oklahoma State

More information

Saving Lives Through Newborn Screening: Making the Most of a Simple Blood Test

Saving Lives Through Newborn Screening: Making the Most of a Simple Blood Test Saving Lives Through Newborn Screening: Making the Most of a Simple Blood Test February 26, 2018 John D. Thompson, PhD, MPH, MPA Director - NBS Program Washington State Public Health Laboratories What

More information

History of Screening for CF and CH in New Zealand. Dianne Webster Diane Casey Kathy Bendikson Richard MacKay Paul Hofman

History of Screening for CF and CH in New Zealand. Dianne Webster Diane Casey Kathy Bendikson Richard MacKay Paul Hofman History of Screening for CF and CH in New Zealand Dianne Webster Diane Casey Kathy Bendikson Richard MacKay Paul Hofman New Zealand Country is small 268680 km 2 Population 4.4M Maori 15% Pacific 7% Asian

More information

For the Ongoing Management of Babies under 1 year old.

For the Ongoing Management of Babies under 1 year old. Pathway Author: Nicy Turney, Senior Nurse Professional Lead, Health Visiting 19.06.17 For the Ongoing Management of Babies under 1 year old. Check Health Records (CHR) to undertake daily checks to identify:

More information

A Quick Guide to the. I507del. Mutation CFTR SCIENCE

A Quick Guide to the. I507del. Mutation CFTR SCIENCE A Quick Guide to the I507del Mutation CFTR SCIENCE 2016 Vertex Pharmaceuticals Incorporated VXR-HQ-02-00045a(1) 03/2016 Loss of CFTR activity is the underlying cause of cystic fibrosis (CF) 1 Spectrum

More information

Application to be an additional provider for existing test on the NHS Directory of Molecular Genetic Testing Additional Provider form

Application to be an additional provider for existing test on the NHS Directory of Molecular Genetic Testing Additional Provider form Application to be an additional provider for existing test on the NHS Directory of Molecular Genetic Testing Additional Provider form Disease: Gene: Cystic Fibrosis (CF) (carrier testing in reproductive

More information

Purpose. Newborn Screening- UC 260. What is NBS? What isn t NBS? History. History 2

Purpose. Newborn Screening- UC 260. What is NBS? What isn t NBS? History. History 2 Purpose Newborn Screening- UC 260 Edward B. Goldman, J.D. Health System Attorney University of Michigan November 13, 2003 We will review newborn screening (NBS) history Look at current NBS practices Discuss

More information

Annual Report Calendar Year 2015

Annual Report Calendar Year 2015 Annual Report Calendar Year 2015 Page 1 of 19 Contents 1. SAMPLE VOLUMES IN 2015...3 1.1 SCREENING SAMPLES...3 1.1.1 INFANTS SCREENED...3 1.1.2 DECLINED/DEFERRED TESTING...4 1.1.3 MISSED SCREENS...5 1.2

More information

Annual Report Calendar Year 2014

Annual Report Calendar Year 2014 Annual Report Calendar Year 2014 1 Contents 1. SAMPLE VOLUMES IN 2014...4 1.1 SCREENING SAMPLES...4 1.1.1 INFANTS SCREENED...4 1.1.2 DECLINED/DEFERRED TESTING...5 1.1.3 MISSED SCREENS...6 1.2 NON-SCREENING

More information

Reliable. results. efficiently. for CH, galactosemia, CAH and CF screening

Reliable. results. efficiently. for CH, galactosemia, CAH and CF screening GSP Neonatal assays for CH, galactosemia, CAH and CF screening Reliable results efficiently GSP Neonatal kits DELFIA or enzyme-based fluorescence assays GSP is the new, automated neonatal screening system

More information

Most common metabolic disorders in childhood. Neonatal screening and diagnostic approach to the. Inborn errors of metabolism (IEM)

Most common metabolic disorders in childhood. Neonatal screening and diagnostic approach to the. Inborn errors of metabolism (IEM) Department of Pediatrics and Developmental Disorders Medical University of Bialystok Most common metabolic disorders in childhood. Neonatal screening and diagnostic approach to the inborn errors of metabolism

More information

Attachment 1. Newborn Screening Program Description

Attachment 1. Newborn Screening Program Description Attachment 1 Newborn Screening Program Description The core mission of Texas Newborn Screening Program is to save children s lives through the early detection of life-threatening disorders. 34 Newborn

More information

Cystic Fibrosis. Cystic Fibrosis. Cystic Fibrosis 5/01/2011 CYSTIC FIBROSIS OF THE PANCREAS AND ITS RELATION TO CELIAC DISEASE. D ANDERSEN.

Cystic Fibrosis. Cystic Fibrosis. Cystic Fibrosis 5/01/2011 CYSTIC FIBROSIS OF THE PANCREAS AND ITS RELATION TO CELIAC DISEASE. D ANDERSEN. 1938 OF THE PANCREAS AND ITS RELATION TO CELIAC DISEASE. D ANDERSEN. American Journal Diseases Children. : The beginning May 1938: 49 cases 25 20 15 Nos of cases 10 5 0 0.5 1 1.5 2 2.5 3 3.5 4 4.5 5 Age

More information

Optimization of the French cystic fibrosis newborn screening programme by a centralized tracking process

Optimization of the French cystic fibrosis newborn screening programme by a centralized tracking process Original Article Optimization of the French cystic fibrosis newborn screening programme by a centralized tracking process J Med Screen 218, Vol. 25(1) 6 12! The Author(s) 217 Reprints and permissions:

More information

WHAT IT MEANS or WHY YOU DO IT

WHAT IT MEANS or WHY YOU DO IT WHAT IT MEANS or WHY YOU DO IT Dr. Patrick Sauer Billings Clinic Pediatrics Objective Increase understanding of prenatal tests Increase understanding of routine newborn procedures Increase knowledge to

More information

Gene Sequencing in Newborn Screening: Covering the Bases of Education and Follow-Up. Amy Gaviglio, MS, CGC February 17, 2017

Gene Sequencing in Newborn Screening: Covering the Bases of Education and Follow-Up. Amy Gaviglio, MS, CGC February 17, 2017 Gene Sequencing in Newborn Screening: Covering the Bases of Education and Follow-Up Amy Gaviglio, MS, CGC February 17, 2017 Outline Education Personnel Case Examples Considerations EDUCATION: OUR BASELINE

More information

Screening Newborns for Congenital Disorders

Screening Newborns for Congenital Disorders Screening Newborns for Congenital Disorders Gary L. Hoffman, BS; Ronald H. Laessig, PhD ABSTRACT The Newborn Screening Laboratory at the Wisconsin State Laboratory of Hygiene (WSLH) tests all newborn babies

More information

Sequencing in Newborn Screening Introduction and Background

Sequencing in Newborn Screening Introduction and Background Sequencing in Newborn Screening Introduction and Background Suzanne Cordovado, PhD Newborn Screening and Molecular Biology Branch Division of Laboratory Sciences Centers for Disease Control and Prevention

More information

Information for health professionals

Information for health professionals Changes to the Newborn Bloodspot Screening Policy for Congenital Hypothyroidism (CHT) in Preterm Babies A UK policy change has been agreed that will mean changes to: which preterm babies require second

More information

NEWBORN METABOLIC SCREEN, MINNESOTA

NEWBORN METABOLIC SCREEN, MINNESOTA Lab Dept: Test Name: Chemistry NEWBORN METABOLIC SCREEN, MINNESOTA General Information Lab Order Codes: Synonyms: CPT Codes: Test Includes: PKUN Newborn Screen for Hyopothyroidism, Phenylketonuria (PKU),

More information

Newborn Bloodspot Screening (NBS) Training for Health Visitors. December 2017

Newborn Bloodspot Screening (NBS) Training for Health Visitors.   December 2017 Newborn Bloodspot Screening (NBS) Training for Health Visitors www.newbornbloodspotscreening.wales.nhs.uk December 2017 Aims To enable you to gain a clear understanding of the following: Aim and rationale

More information

Novel strategies in newborn screening for cystic fibrosis: a prospective controlled study

Novel strategies in newborn screening for cystic fibrosis: a prospective controlled study Thorax Online First, published on January 23, 2012 as 10.1136/thoraxjnl-2011-200730 Cystic fibrosis < An additional material is published online only. To view this file please visit the journal online

More information

Newborn Screening in Manitoba. Information for Health Care Providers

Newborn Screening in Manitoba. Information for Health Care Providers Newborn Screening in Manitoba Information for Health Care Providers Newborn screening: a healthy start leads to a healthier life Health care professionals have provided newborn screening for phenylketonuria

More information

Overview of Newborn Screening, Potential Uses of Residual Dried Blood Spots, and Protection of Privacy

Overview of Newborn Screening, Potential Uses of Residual Dried Blood Spots, and Protection of Privacy Overview of Newborn Screening, Potential Uses of Residual Dried Blood Spots, and Protection of Privacy Alan R. Fleischman, M.D. Senior Vice President and Medical Director Chair, Federal Advisory Committee,

More information

Health and Wellness for all Arizonans. azdhs.gov

Health and Wellness for all Arizonans. azdhs.gov To identify newborns with certain, rare disorders and assist families of affected infants so that they receive appropriate and timely treatment to prevent or delay serious medical problems. To identify

More information

SUMMARY THE RELEVANCE OF THE NEONATAL URINE SCREENING FOR INBORN ERRORS OF METABOLISM PERFORMED IN QUÉBEC. Introduction

SUMMARY THE RELEVANCE OF THE NEONATAL URINE SCREENING FOR INBORN ERRORS OF METABOLISM PERFORMED IN QUÉBEC. Introduction SUMMARY THE RELEVANCE OF THE NEONATAL URINE SCREENING FOR INBORN ERRORS OF METABOLISM PERFORMED IN QUÉBEC Introduction Screening newborns for a number of hereditary diseases is common practice throughout

More information

Assessing Mothers Knowledge of the Wisconsin Newborn Screening Program. Sara Wolfgram UW Master of Public Health Symposium August 11, 2006

Assessing Mothers Knowledge of the Wisconsin Newborn Screening Program. Sara Wolfgram UW Master of Public Health Symposium August 11, 2006 Assessing Mothers Knowledge of the Wisconsin Newborn Screening Program Sara Wolfgram UW Master of Public Health Symposium August 11, 2006 Background Wisconsin Newborn Screening (NBS): Began in 1965 Heel

More information

A Quick Guide to the G A. Mutation CFTR SCIENCE

A Quick Guide to the G A. Mutation CFTR SCIENCE A Quick Guide to the 1717-1G A Mutation FR SIENE 2016 Vertex Pharmaceuticals Incorporated VXR-HQ-02-00045a(1) 03/2016 Loss of FR activity is the underlying cause of cystic fibrosis (F) 1 Spectrum of Phenotypes

More information

Newborn Screening: Focus on Treatment

Newborn Screening: Focus on Treatment Newborn Screening: Focus on Treatment Alan R. Fleischman, M.D. Senior Vice President and Medical Director March of Dimes National Conference of State Legislatures July 21, 2008 Newborn Screening: A Public

More information

The Compelling Benefits of Routine 2 nd NBS: A Fifteen-Year Review in Washington State. Saving lives with a simple blood spot

The Compelling Benefits of Routine 2 nd NBS: A Fifteen-Year Review in Washington State. Saving lives with a simple blood spot The Compelling Benefits of Routine 2 nd NBS: A Fifteen-Year Review in Washington State Caroline T. Nucup-Villaruz, MD Primary Author NBS Consultant - Disorder FU Santosh Shaunak Co-Author & Presenter Laboratory

More information

Since 1979, it has been possible to measure SUMMARY MEDICINE ORIGINAL ARTICLE

Since 1979, it has been possible to measure SUMMARY MEDICINE ORIGINAL ARTICLE ORIGINAL ARTICLE One-Year Evaluation of a Neonatal Screening Program for Cystic Fibrosis in Switzerland Corina S. Rueegg, Claudia E. Kuehni, Sabina Gallati, Matthias Baumgartner, Toni Torresani, Juerg

More information

THE ROLE OF CFTR MUTATIONS IN CAUSING CYSTIC FIBROSIS (CF)

THE ROLE OF CFTR MUTATIONS IN CAUSING CYSTIC FIBROSIS (CF) THE ROLE OF CFTR MUTATIONS IN CAUSING CYSTIC FIBROSIS (CF) Vertex Pharmaceuticals Incorporated, 50 Northern Avenue, Boston, MA 02210. Vertex and the Vertex triangle logo are registered trademarks for Vertex

More information

Development of a Multiplex CYP21A2 Genotyping Assay for Congenital Adrenal Hyperplasia Screening

Development of a Multiplex CYP21A2 Genotyping Assay for Congenital Adrenal Hyperplasia Screening Development of a Multiplex CYP21A2 Genotyping Assay for Congenital Adrenal Hyperplasia Screening Christopher N. Greene, Ph.D. Newborn Screening and Molecular Biology Branch National Center for Environmental

More information

Newborn bloodspot testing

Newborn bloodspot testing Policy HUMAN GENETICS SOCIETY OF AUSTRALASIA ARBN. 076 130 937 (Incorporated Under the Associations Incorporation Act) The liability of members is limited RACP, 145 Macquarie Street, Sydney NSW 2000, Australia

More information

Newborn Screening: Blood Spot Disorders

Newborn Screening: Blood Spot Disorders Newborn Screening: Blood Spot Disorders Arizona s Newborn Screening Program Program Overview Panel of Disorders Disorder Descriptions Program Components Hospitals ADHS Lab ADHS Follow-up ADHS Billing Medical

More information

Centres of reference for rare diseases expectations based on Polish experience. Małgorzata Krajewska-Walasek

Centres of reference for rare diseases expectations based on Polish experience. Małgorzata Krajewska-Walasek Centres of reference for rare diseases expectations based on Polish experience Małgorzata Krajewska-Walasek Department of Medical Genetics, The Children s Memorial Health Institute, Warsaw, Poland My presentation

More information

For Your Baby s Health Department of Health

For Your Baby s Health Department of Health Newborn Screening For Your Baby s Health Department of Health Why is my baby tested? To help make sure your baby will be as healthy as possible. The blood test provides important information about your

More information

CYSTIC FIBROSIS. The condition:

CYSTIC FIBROSIS. The condition: CYSTIC FIBROSIS Both antenatal and neonatal screening for CF have been considered. Antenatal screening aims to identify fetuses affected by CF so that parents can be offered an informed choice as to whether

More information

Cystic Fibrosis as it relates to the neonate MARIANNE MUHLEBACH, MD PROFESSOR, DEPT. PEDIATRICS UNC CHAPEL HILL

Cystic Fibrosis as it relates to the neonate MARIANNE MUHLEBACH, MD PROFESSOR, DEPT. PEDIATRICS UNC CHAPEL HILL Cystic Fibrosis as it relates to the neonate MARIANNE MUHLEBACH, MD PROFESSOR, DEPT. PEDIATRICS UNC CHAPEL HILL Objectives: At the end of the presentation the listeners will Be able to describe neonatal

More information

The Future of CF Therapy

The Future of CF Therapy The Future of CF Therapy Peter J. Mogayzel, Jr., M.D., Ph.D. Eudowood Division of Pediatric Respiratory Sciences The Johns Hopkins School of Medicine Overview The Future of CF Therapy Personalized therapy

More information

Newborn Bloodspot Screening Information for parents

Newborn Bloodspot Screening Information for parents Newborn Bloodspot Screening Information for parents You will be offered a bloodspot screening test for your newborn baby for several rare but serious conditions. The sample for this test is usually taken

More information

European best practice guidelines for cystic fibrosis neonatal screening

European best practice guidelines for cystic fibrosis neonatal screening Journal of Cystic Fibrosis 8 (2009) 153 173 www.elsevier.com/locate/jcf European best practice guidelines for cystic fibrosis neonatal screening Carlo Castellani a,, Kevin W. Southern b, Keith Brownlee

More information

Institute of Medicine Workshop May 24, 2010 Challenges and Opportunities in Using Newborn Screening Samples for Translational Research

Institute of Medicine Workshop May 24, 2010 Challenges and Opportunities in Using Newborn Screening Samples for Translational Research Institute of Medicine Workshop May 24, 2010 Challenges and Opportunities in Using Newborn Screening Samples for Translational Research Alan R. Fleischman, M.D. Senior Vice President and Medical Director

More information

Health Chapter ALABAMA STATE BOARD OF HEALTH ALABAMA DEPARTMENT OF PUBLIC HEALTH BUREAU OF FAMILY HEALTH SERVICES ADMINISTRATIVE CODE

Health Chapter ALABAMA STATE BOARD OF HEALTH ALABAMA DEPARTMENT OF PUBLIC HEALTH BUREAU OF FAMILY HEALTH SERVICES ADMINISTRATIVE CODE ALABAMA STATE BOARD OF HEALTH ALABAMA DEPARTMENT OF PUBLIC HEALTH BUREAU OF FAMILY HEALTH SERVICES ADMINISTRATIVE CODE CHAPTER 420-10-1 CARE AND TREATMENT OF INFANTS IDENTIFIED THROUGH THE NEWBORN SCREENING

More information

Screen Positive Follow-up In The Clinic

Screen Positive Follow-up In The Clinic Screen Positive Follow-up In The Clinic NBS Molecular Training Workshop April 2016 Sherly Pardo-Reoyo, M.D. Medical Geneticist Assistant Professor Dept. Biochemistry & Pediatrics UPR-School of Medicine

More information

A Guide for Prenatal Educators

A Guide for Prenatal Educators A Guide for Prenatal Educators Why Teach Newborn Screening This booklet is designed to make it easy for you, a prenatal educator, to effectively inform expectant parents about newborn screening. All of

More information

Newborn Bloodspot Screening Information for parents

Newborn Bloodspot Screening Information for parents Newborn Bloodspot Screening Information for parents You will be offered a bloodspot screening test for your newborn baby for several rare but serious conditions. The sample for this test is usually taken

More information

Slide 1: The information has been produced with thanks to the NHS Newborn Blood Spot Screening Programme.

Slide 1: The information has been produced with thanks to the NHS Newborn Blood Spot Screening Programme. Slide 1: The information has been produced with thanks to the NHS Newborn Blood Spot Screening Programme. 1 Slide 2: Aim 2 Slide 3: Objectives 3 Slide 4: What is the aim of newborn bloodspot screening?

More information

SUNY Downstate Medical Center -University Hospital of Brooklyn Network Department of Pathology Policy and Procedure

SUNY Downstate Medical Center -University Hospital of Brooklyn Network Department of Pathology Policy and Procedure SUNY Downstate Medical Center -University Hospital of Brooklyn Network Department of Pathology Policy and Procedure Subject: NEWBORN SCREENING FOR METABOLIC DEFICIENCIES Prepared By: Yolaine Henry Edit

More information

Detection of copy number variations in PCR-enriched targeted sequencing data

Detection of copy number variations in PCR-enriched targeted sequencing data Detection of copy number variations in PCR-enriched targeted sequencing data German Demidov Parseq Lab, Saint-Petersburg University of Russian Academy of Sciences, current: Center for Genomic Regulation

More information

Annual Report to the Newborn Screening Ontario Advisory Council Calendar Year 2017

Annual Report to the Newborn Screening Ontario Advisory Council Calendar Year 2017 Annual Report to the Newborn Screening Ontario Advisory Council Calendar Year 2017 415 Smyth Road, Ottawa Ontario K1H 8M8 Phone: 6137383222 1877NBS8330 Fax: 6137380853 Contents 1. SAMPLE VOLUMES IN 2017...4

More information

Disclosures. Learning Objectives. What is Cystic Fibrosis? Background

Disclosures. Learning Objectives. What is Cystic Fibrosis? Background 39 th National Conference on Pediatric Health Care March 19-22, 2018 CHICAGO Disclosures The Vision and the Journey of Cystic Fibrosis: Newborn Screening to Breakthrough Therapy March 20, 2018 Cynthia

More information

Newborn Screening & Methods for Diagnosing Inborn Errors of Metabolism

Newborn Screening & Methods for Diagnosing Inborn Errors of Metabolism Newborn Screening & Methods for Diagnosing Inborn Errors of Metabolism Patricia Jones, PhD DABCC FACB UT Southwestern Medical Center Children s Medical Center Dallas, Texas Learning Objectives Justify

More information

Median Normalization of Newborn Screening Analyte Data to Improve Screening Performance

Median Normalization of Newborn Screening Analyte Data to Improve Screening Performance Median Normalization of Newborn Screening Analyte Data to Improve Screening Performance T Henry 1, C Wolf 2, M McCann 2, and S Berberich 1 1 Iowa Newborn Screening Program 2 Minnesota Newborn Screening

More information

Title: Assessing Recommendations Related To Timeliness of Newborn Screening

Title: Assessing Recommendations Related To Timeliness of Newborn Screening Title: Assessing Recommendations Related To Timeliness of Newborn Screening Purpose: In January 2014, the Secretary s Discretionary Advisory Committee on Heritable Diseases on Newborns and Children (Committee)

More information

PULMONARY SURFACTANT, ALPHA 1 ANTITRYPSIN INHIBITOR DEFICIENCY, AND CYSTIC FIBROSIS DR. NABIL BASHIR BIOCHEMISTRY/RESPIRATORY SYSTEM

PULMONARY SURFACTANT, ALPHA 1 ANTITRYPSIN INHIBITOR DEFICIENCY, AND CYSTIC FIBROSIS DR. NABIL BASHIR BIOCHEMISTRY/RESPIRATORY SYSTEM PULMONARY SURFACTANT, ALPHA 1 ANTITRYPSIN INHIBITOR DEFICIENCY, AND CYSTIC FIBROSIS DR. NABIL BASHIR BIOCHEMISTRY/RESPIRATORY SYSTEM Pulmonary surfactant Pulmonary surfactant is (phospholipoprotein) complex

More information

Flow of samples and information for newborn screening in a model of publicprivate

Flow of samples and information for newborn screening in a model of publicprivate Flow of samples and information for newborn screening in a model of publicprivate partnership Marzia Pasquali, PhD, FACMG Associate Professor of Pathology, University of Utah Medical Director, Biochemical

More information

Cystic Fibrosis a) Diagnostic Dilemmas b) The New Problems. Dr Mark Rosenthal Royal Brompton Hospital London

Cystic Fibrosis a) Diagnostic Dilemmas b) The New Problems. Dr Mark Rosenthal Royal Brompton Hospital London Cystic Fibrosis a) Diagnostic Dilemmas b) The New Problems Dr Mark Rosenthal Royal Brompton Hospital London So what exactly is CF? A genetic diagnosis An electrolyte diagnosis An electrical diagnosis A

More information

Wang Linhong, Deputy Director, Professor National Center for Women and Children s Health, China CDC

Wang Linhong, Deputy Director, Professor National Center for Women and Children s Health, China CDC Maternal and Child Health in China Wang Linhong, Deputy Director, Professor National Center for Women and Children s Health, China CDC Table of Contents 1 MCH Development and Situation in China 2 MCH Resources

More information

Case Study What is the Relationship Between the Cell Membrane and Cystic Fibrosis?

Case Study What is the Relationship Between the Cell Membrane and Cystic Fibrosis? Names: Date: Case Study What is the Relationship Between the Cell Membrane and Cystic Fibrosis? Dr. Weyland examined a six month old infant that had been admitted to University Hospital earlier in the

More information

Topeka Indiana LaGrange/ Elkhart Counties Indiana Plain Church Population over 46,000

Topeka Indiana LaGrange/ Elkhart Counties Indiana Plain Church Population over 46,000 Topeka Indiana LaGrange/ Elkhart Counties Indiana Plain Church Population over 46,000 Need Recognition Recognition of need local community members and Indiana Hemophilia and Thrombosis Center Initial Survey

More information

Implementation of Newborn Screening for Duchenne Muscular Dystrophy.

Implementation of Newborn Screening for Duchenne Muscular Dystrophy. Implementation of Newborn Screening for Duchenne Muscular Dystrophy. Michele A. Lloyd-Puryear, MD, PhD 1, Stuart J Moat, PhD 2, Amy Brower 3, PhD, Annie Kennedy 1, Petra Furu 4, Michael Watson, PhD 3,

More information

Transformational Treatments. PRESTON W. CAMPBELL, III, M.D. Executive Vice President for Medical Affairs

Transformational Treatments. PRESTON W. CAMPBELL, III, M.D. Executive Vice President for Medical Affairs Transformational Treatments PRESTON W. CAMPBELL, III, M.D. Executive Vice President for Medical Affairs Symptom-based CF Therapies 45 Median Predicted Survival Age of US Patients with Cystic Fibrosis 41

More information

Newborn Screening Top 10 Challenges

Newborn Screening Top 10 Challenges Newborn Screening Top 10 Challenges Celia Kaye, MD, PhD, FAAP Robert A. Saul, MD, FAAP Newborn Screen Positive Infant ACTion Project Learning Session May 21-22, 2010 I have no relevant financial relationships

More information

Newborn Screening. Helping babies start life healthy. Minnesota Newborn Screening Program

Newborn Screening. Helping babies start life healthy. Minnesota Newborn Screening Program Newborn Screening Helping babies start life healthy Minnesota Newborn Screening Program What is newborn screening? Newborn screening is a set of three tests that check babies for serious, rare conditions.

More information

Genetic screening. Martin Delatycki

Genetic screening. Martin Delatycki 7 Genetic screening Martin Delatycki Case study 1 Vanessa and John are planning a family. They see their general practitioner and ask whether they should have any tests prior to falling pregnant to maximise

More information

Comprehensive cost-utility analysis of newborn screening strategies Carroll A E, Downs S M

Comprehensive cost-utility analysis of newborn screening strategies Carroll A E, Downs S M Comprehensive cost-utility analysis of newborn screening strategies Carroll A E, Downs S M Record Status This is a critical abstract of an economic evaluation that meets the criteria for inclusion on NHS

More information

NEWBORN SCREENING PRENATAL CURRICULUM

NEWBORN SCREENING PRENATAL CURRICULUM NEWBORN SCREENING PRENATAL CURRICULUM GOAL 1: Explain why newborn screening is important GOAL 2: How newborn screening is performed GOAL 3: The newborn screening test results GOAL 4: Follow-up to newborn

More information

Concerning Testing of Pregnant Women and Newborns for HIV: Sindy M. Paul, MD, MPH, FACPM October 27, 2009

Concerning Testing of Pregnant Women and Newborns for HIV: Sindy M. Paul, MD, MPH, FACPM October 27, 2009 PL 2007 c 218 An Act Concerning Testing of Pregnant Women and Newborns for HIV: The Regulations Sindy M. Paul, MD, MPH, FACPM October 27, 2009 The Process Legislation signed into law Legislation requires

More information

Evaluation of Patients with Diffuse Bronchiectasis

Evaluation of Patients with Diffuse Bronchiectasis Evaluation of Patients with Diffuse Bronchiectasis Dr. Patricia Eshaghian, MD Assistant Clinical Professor of Medicine Director, UCLA Adult Cystic Fibrosis Affiliate Program UCLA Division of Pulmonary

More information

Newborn screening programs in Europe

Newborn screening programs in Europe Newborn screening programs in Europe arguments and efforts regarding harmonization J.Gerard Loeber 1 APHL, San Diego, Nov 10, 2011 What is Europe? EU Cand EU Pot. cand EU EFTA Other No memb Council of

More information

Newborn Screening in Washington State Saving lives with a simple blood spot

Newborn Screening in Washington State Saving lives with a simple blood spot Newborn Screening in Washington State Saving lives with a simple blood spot Ashleigh Ragsdale, MPH Gauri Gupta, MScPH Objectives Newborn Screening Overview Process and Law Completing Collection Cards Video

More information

TEST INFORMATION Test: CarrierMap GEN (Genotyping) Panel: CarrierMap Expanded Diseases Tested: 311 Genes Tested: 299 Mutations Tested: 2647

TEST INFORMATION Test: CarrierMap GEN (Genotyping) Panel: CarrierMap Expanded Diseases Tested: 311 Genes Tested: 299 Mutations Tested: 2647 Ordering Practice Jane Smith John Smith Practice Code: 675 Miller MD 374 Broadway New York, NY 10000 Physician: Dr. Frank Miller Report Generated: 2016-02-03 DOB: 1973-02-19 Gender: Female Ethnicity: European

More information

A Case of Cystic Fibrosis

A Case of Cystic Fibrosis Name(s) Date A Case of Cystic Fibrosis Dr. Weyland examined a six month old infant that had been admitted to University Hospital earlier in the day. The baby's parents had brought young Zoey to the emergency

More information

Positive Newborn Screens: What do you do next?

Positive Newborn Screens: What do you do next? Positive Newborn Screens: What do you do next? James B. Gibson, MD, Ph.D. Biochemical Geneticist at Specially for Children Clinical Associate Professor of Pediatrics UTHSCSA Carla R. Scott, MD Pediatric

More information

BMR Be l g i s c h Mu c o v i s c i d o s e Re g i s t e r

BMR Be l g i s c h Mu c o v i s c i d o s e Re g i s t e r The Belgian CYSTIC FIBROSIS Registry Annual Report 2007 BMR Be l g i s c h Mu c o v i s c i d o s e Re g i s t e r RBM Registre Belge de la Mucoviscidose Scientific Institute of Public Health, Brussels

More information

Analytes, instrumentation and software for neonatal screening. Complete solutions for screening newborns

Analytes, instrumentation and software for neonatal screening. Complete solutions for screening newborns Analytes, instrumentation and software for neonatal screening Complete solutions for screening newborns w w w. p e r k i n e l m e r. c o m 1 Everything you need for efficient neonatal screening PerkinElmer

More information

Routine Newborn Screening, Testing the Newborn Inherited Metabolic Disorders Update August 2015

Routine Newborn Screening, Testing the Newborn Inherited Metabolic Disorders Update August 2015 Routine Newborn Screening, Testing the Newborn Inherited Metabolic Disorders Update August 2015 Metabolic birth defects can cause physical problems, mental retardation and, in some cases, death. It is

More information

Newborn Metabolic Screening Programme. Annual Report

Newborn Metabolic Screening Programme. Annual Report Newborn Metabolic Screening Programme Annual Report January to December 2014 Copyright The copyright owner of this publication is the Ministry of Health, which is part of the New Zealand Crown. The Ministry

More information

Preconception carrier screening. Information for Doctors

Preconception carrier screening. Information for Doctors Preconception carrier screening Information for Doctors Preconception carrier screening can identify individuals or couples at high risk of having a child with a serious heritable disorder. This test is

More information

THE JOURNAL OF PEDIATRICS

THE JOURNAL OF PEDIATRICS SUPPLEMENT www.jpeds.com THE JOURNAL OF PEDIATRICS Diagnosis of Cystic Fibrosis: Consensus Guidelines from the Cystic Fibrosis Foundation Philip M. Farrell, MD, PhD 1, Terry B. White, PhD 2, Clement L.

More information

"Management and Treatment of Patients with Cystic fibrosis (CF)

Management and Treatment of Patients with Cystic fibrosis (CF) "Management and Treatment of Patients with Cystic fibrosis (CF) Dr. Malena Cohen-Cymberknoh Pediatric Pulmonology and CF Center Hadassah Hebrew-University Medical Center Jerusalem, Israel Afula, March

More information

A look across the border

A look across the border A look across the border Dr. Jim Bonham PNS-congres 17 april 2018 Disclosure I have no disclosures of commercial support. Professionally, I am a member of the Executive Committee of ISNS 2 PNS-congres

More information

Information for health professionals

Information for health professionals Introduction of a new screening test for newborn babies in Wales Newborn bloodspot screening for Medium chain acyl-coa dehydrogenase deficiency (MCADD) Newborn bloodspot screening for MCADD is being introduced

More information

GENETIC SCREENING. Prof Dr Karen Sermon, MD, PhD LEARNING OBJECTIVES DISCLOSURE

GENETIC SCREENING. Prof Dr Karen Sermon, MD, PhD LEARNING OBJECTIVES DISCLOSURE GENETIC SCREENING Prof Dr Karen Sermon, MD, PhD LEARNING OBJECTIVES At the conclusion of this presentation, participants should be able to answer the following questions: What is (genetic) screening? Why

More information

Oral Cystic Fibrosis Modulators

Oral Cystic Fibrosis Modulators Oral Cystic Fibrosis Modulators Goals: To ensure appropriate drug use and limit to patient populations in which they have demonstrated to be effective and safe. To monitor for clinical response for appropriate

More information

Community Genetics. Hanan Hamamy Department of Genetic Medicine & Development Geneva University Hospital

Community Genetics. Hanan Hamamy Department of Genetic Medicine & Development Geneva University Hospital Community Genetics Hanan Hamamy Department of Genetic Medicine & Development Geneva University Hospital Training Course in Sexual and Reproductive Health Research Geneva 2011 Definition of Community Genetics

More information

UK Newborn Screening for X-ALD - progress from a lab perspective

UK Newborn Screening for X-ALD - progress from a lab perspective UK Newborn Screening for X-ALD - progress from a lab perspective Mrs. Leila Cornes Senior Clinical Scientist, Newborn Screening Southmead Hospital, Bristol May 2016 C26:0-lysoPC C26:0-lysophosphatidylcholine

More information

Pharmacogenomics in Rare Diseases: Development Strategy for Ivacaftor as a Therapy for Cystic Fibrosis

Pharmacogenomics in Rare Diseases: Development Strategy for Ivacaftor as a Therapy for Cystic Fibrosis Pharmacogenomics in Rare Diseases: Development Strategy for Ivacaftor as a Therapy for Cystic Fibrosis Federico Goodsaid Vice President Strategic Regulatory Intelligence Vertex Pharmaceuticals Is there

More information

Pediatrics Grand Rounds 18 Sept University of Texas Health Science Center. + Disclosure. + Learning Objectives.

Pediatrics Grand Rounds 18 Sept University of Texas Health Science Center. + Disclosure. + Learning Objectives. Disclosure Dr Donna Willey Courand receives research support from Cystic Fibrosis Therapeutics The Cystic Fibrosis Foundation Children with Special Health Care Needs Cystic Fibrosis 05: Improving Survival

More information

Newborn Blood Spot Screening Service. Information for Users

Newborn Blood Spot Screening Service. Information for Users Newborn Blood Spot Screening Service Information for Users Newborn Blood Spot user Handbook v1 Page 1 14/07/2016 Content s Laboratory Information... 3 The Service... 3 Laboratory Mission Statement... 3

More information

Importance of Clinical Information for Optimal Genetic Test Selection and Interpretation

Importance of Clinical Information for Optimal Genetic Test Selection and Interpretation Importance of Clinical Information for Optimal Genetic Test Selection and Interpretation Chris Miller, MS, LCGC ARUP Laboratories Learning Objectives Understand the relevance of clinical information for

More information

Session 1. Learning outcomes. Why we need children s palliative care. Why we need children s palliative care (2)

Session 1. Learning outcomes. Why we need children s palliative care. Why we need children s palliative care (2) Session 1 An introduction to children s palliative care, and who needs CPC Learning outcomes By the end of the session participants should: Understand the core principles of children s palliative care

More information