Update on X-ALD Screening in the New York Laboratory
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1 Update on X-ALD Screening in the New York Laboratory Michele Caggana, Sc.D., FACMG January 18, 2018 January 29, 2018
2 January 29, Aidan Seeger
3 January 29,
4 January 29, ,000 births
5 January 29, Status of Other States Tennessee January 2018 New Jersey January 2018 Washington February 2018 Nebraska July 2018 Florida July 2018 North Carolina and Utah in pilot phase
6 January 29, Other States (Intent*) AZ, AR, CO, DE, GA, HI, IL, IA, ME, MD, MA, MI, NE, NV, NH, OH, OK, SC, TX, VT, VA,
7 January 29,
8 January 29, General Assay Approach C26:0 is the marker used in diagnostic testing for ALD (serum) C26:0 is elevated in dried blood spots, so use C26:0 LPC (lysophosphatidylcholine) (Raymond, Jones, Moser, 2007) Electrospray MS/MS, positive mode or negative mode Unknown interferent(s) using positive mode (need to follow first tier with second tier HPLC-MS/MS) Pos. Ion Mode Neg. Ion Mode (De Jesus, Haynes; 2012)
9 January 29, Assay Options Flow injection analysis MS/MS, combine ALD and LSD extracts (Tortorelli et al., 2016), followed by second tier HPLC-MS/MS (Pos. ion mode): NY approach, no extra capacity was required, since we already were screening for LSD (Krabbe): can multiplex ALD/Pompe/MPS-1 and other LSDs.
10 January 29, Third Tier: DNA Sequencing Full sequencing of ABCD1 gene Not intended to reduce referrals Helps to determine: o if females are ALD carriers o if males have mutation o if no mutation, consider other PBD Neither marker concentration nor genotype correlates with phenotype!!
11 January 29, Positive Controls: First Tier Cut-off Positive controls, Tier 1 results Sample ID Accession # Condition C26:0 (µm) ALD_ ALD 1.2 ALD_ Zellweger 1.75 ALD_ ALD 1.3 ALD_ Zellweger 1.53 ALD_ ALD 0.78 ALD_ ALD 1.08 ALD_ ALD 1.09 ALD_ Carrier 0.78 ALD_ ALD 1.19 ALD_ ALD 1.28 Mayo positive controls Sample ID Patient information C26:0 (µm) PLSD XALD # year old 1.03 male PLSD XALD # year old 0.48 male PLSD XALD # year old male 0.69 (Cutoff set at 0.4)
12 January 29, Janus Liquid Handlers
13 January 29, First Tier Test
14 January 29, Second Tier Test
15 January 29, Current New York State Assay (ALD method) Punch 3-mm specimen, add 200 µl methanol with d4-c26:0 LPC 1 hour extraction Remove 25 µl of extract and combine with LSD extract Analyze samples, 1.0 min per sample/marker is C26:LPC Follow screening algorithm
16 January 29, ALD Screening Algorithm All specimens tested for C26:0 LPC 0.4 µm < 0.4 µm Second Tier HPLC C26:0 LPC C26:0 LPC 0.4 µm DNA testing For information only C26:0 ( ): Presumptive Positive/request repeat C26:0 LPC 0.24 Screen Positive/Referral Repeat C26: µm Repeat < 0.24 Screen negative
17 January 29, Population Statistics (12/30/13 12/31/17) C26:0-LPC Statistics Average 0.21 Median 0.2 StdDev 0.61 ALD N = 1,044,563 Samples C26:0 Count Yearly Count > ,936 8,601 > , > Birth Rate for NY = ~240,000 First Tier Cut-off = 0.4 µm
18 January 29, Adrenoleukodystrophy Data December 30, 2013 December 31, ,824 babies screened 482,223 males 460,182 females 419 gender unknown/ambiguous
19 January 29, Adrenoleukodystrophy Data 75 total referrals (12/30/ /31/2017) 30 boys with ALD (*includes possible) 27 carrier girls 1 carrier boy* 17 referrals without known ABCD1 mutation (2 VOUS): 10 Zellweger syndrome 1 Aicardi-Goutieres syndrome 1 likely PBD; expired (no Dx; C26:0-LPC = 1.69) 1 neonatal lupus; elev. VLCFA 1 D-bifunctional protein deficiency (known prenatally) 1 Healthy; increased VLCFA* 1 Boy with VOUS; LTFU (C26:0-LPC = 1.74) 1 Pending
20 January 29, Adrenoleukodystrophy Data Molecular 26 Different Mutations Known to Cause ALD (pool) p.arg518gln (carrier) 2 p.arg591gln (carrier) 3 p.arg554his (ALD and carriers) 3 p.pro623fs* 2 p.gln472argfs*83 2 (de novo; ~7% in literature) p.arg418trp 1 p.gly512ser 1 p.arg280cys 1 p.glu272del 2
21 January 29, Adrenoleukodystrophy Data Molecular 2 Polymorphisms *8G>C 3 UTR; c.-733g>c promoter variant 20 Novel variants (2 in one boy; 1 in each of twins) 6 are VOUS, but ALD mutations reported at the same amino acid (e.g. p.arg280his detected; p.arg280cys known)
22 January 29, Adrenoleukodystrophy Data Molecular 15 confirmed ALD had a known mutation 15 confirmed ALD had a variant of uncertain significance 19 carriers had a known mutation 8 carriers had a variant of uncertain significance
23 January 29, ALD by the Numbers Referral rate: 1 in 12,571 or 0.008% of infants screened Incidence of ALD*: 1 in 16,541 all births (n=57) Incidence of ALD*: 1 in 16,074 males (n=30) Incidence of PBDs: 1 in 94,282 births (n=10) * Assumption that all with mutations will become symptomatic (includes female carriers).
24 January 29, Some Findings False Positive? Newborn Screen Results: C26:0 = 0.56 µm; HC26:0 = 0.36 µm DNA Results: No ABCD1 mutation detected; common c.*8g>c Follow-up Results: No abnormal clinical findings C26:0 = 3.22 nmol/ml (Normal < = 1.30) C26:0/C22:0 = (Normal < = 0.023) C24:0/C22:0 = 1.60 (Normal < = 1.39) Normal plasmalogens Normal ABCD1 MLPA studies Normal VLCFA in father, mother and two brothers Diagnosis: Possible peroxisomal disorder of unknown etiology, X-linked ALD ruled out
25 January 29, Some Findings False Positive? Newborn Screen Results: C26:0 = 2.01 µm; HC26:0 = 1.67 µm DNA Results: No ABCD1 mutation detected; Additional Info: Baby girl normal birth weight In NICU with seizures Work up for suspected CNS hemorrhage Baby on heavy anti-seizure medication Diagnosis: Probable peroxisomal disorder [Zellweger]; neonatologist not considering genetic causation prior to NBS **Currently several ALD boys have adrenal insufficiency
26 January 29, Example of De Novo Mutation 9/75; 12% Mom Baby Dad 26
27 Denise Kay, Ph.D.; Colleen Stevens, Ph.D. January 29, Multi-gene Panels in Newborn Screening Benefits Single test (no more individual Sanger tests) Cheaper to do many genes need economy of scale Molecular diagnosis at birth; supplement biochemical NBS and confirmatory testing Differential diagnosis (1 NBS analyte = several possible conditions) Phenotype predictions using genotype (always in there; someday?) Treatment and prognosis Inform genetic counseling Eventually rule out some false positives? Genes /regions can be added or removed/blinded
28 January 29, In Development: Newborn Screening NGS Panel SCID CFTR HBB Galactosemia GAMT deficiency And more. Pompe Krabbe X-ALD MPS1 MCAD VLCAD
29 January 29, Thank You!!
30 January 29, Acknowledgements Monica Martin, Chad Biski, Ryan Wilson, Matt Wojcik, Cathy Lubowski Mark Morrissey, Ph.D., Joe Orsini, Ph.D. Carlos Saavedra, M.D., Allison Madole, Matthew Nichols, Beth Vogel, M.S., Sarah Bradley, M.S., Dave Render, Maryann Blue Gerald Raymond, M.D. Ann Moser IMD Specialty Care Center Directors Elisa Seeger NewSTEPs team Sikha Singh, MHS, PMP, Ruthanne Sheller, MPH, Sari Edelman, MPH, Jelili Ojodu, MPH, Marci Sontag, Ph.D, Yvonne Kellar-Guenther, Ph.D., Joshua Miller, MPH
31 Roundtable: X-ALD Screening Michele Caggana, Sc.D., FACMG January 18, 2018 January 29, 2018
32 January 29, ALD Screening in Amsterdam Passed in 2015, but since females develop at later age. Thus do not fulfill criteria for NBS Only screen males (Health Council) Ethical issue related to NBS Technical challenge: Expanded to 31 conditions and expansion is organized by CDC like entity; 14 disease expert groups Add 2-3 per year (2020) Another 2-3 years, algorithm in development Y chromosome; tier 1 tier 2, then ABCD1 no PBDs Issue of older ALD boys; younger sister not screened
33 January 29, Where to Set Cutoffs 1. Big difference in incidence:, likely due to cutoff differences 2. Many states now working on adding on ALD 3. If C26:0-LPC elevated in NBS; VLCFA (C26:0) elevated in dx lab 4. Are diagnostic lab interpretations based on VLCFA reference ranges based on concentrations measured in presymptomatic newborns? How do we know these newborns will develop into true cases? 5. Is high incidence explained by underdiagnosis (by NY) or false positives? More VOUS in high incidence states. 6. What are false positives/true positives? 7. LTFU required to determine what is a case 8. How can we have harmony across states 9. Should this be a goal? Now is time to start.
34 January 29, Typical Distribution/Cutoffs Disease unlikely Possible disease Disease highly likely No false negatives No false positives Very few false positives
35 January 29, Laboratory Comparisons NY vs. NC results NY vs. CA results y = 0.82x R² = y = x R² = y = x R² = NY vs CT) Good correlations Slopes (recovery) vary
36 January 29, CT Cutoffs ANALYTE CT NBS BORDERLINE POSITIVE CUTOFF (µmol/l) CT NBS PRESUMPTIVE POSITIVE CUTOFF (µmol/l) C24:0-LPC NA C26:0-LPC
37 January 29, CT Results Summary Number of infants analyzed as of 08/01/17 (10/1/ /25/2017) Total Screen Positive 31 Samples reported with 2nd request 16 Samples normal on second sample analysis 13 False Positive False Positive Pending Confirmed ALD carrier diagnosis newborn infant results (negative molecular testing results, positive biochemical testing results) Confirmed ALD diagnosis newborn infant results Siblings Identified (and confirmed at Treatment Center) with ALD Other 1 female 13 (7 male, 6 female) 2 (1 male, 1 female) 1 Zellweger 2017 (female) Incidence Overall ~1:6443
38 January 29, False Positive Cases Identifying families that are false positive Issue of empowerment and knowing what to do v. the worried well, patients in waiting ; differing opinions Families upset to be identified (general NBS, not just ALD) Patients need to be given information Issue of familial responsibility What about those that cannot take the responsibility? What is harm to ID false positive cases? Ethical studies We don t know how to define them. We don t know the numerator for false positives
39 January 29, What is a Case? Being concrete, using diagnosis v. being at risk for ALD If functionally proven pathogenic variant, high VLCFA, safe to call it ALD? Look for adrenal insufficiency early Borderline results; repeat specimen. Are these kids at lower risk? Changing cutoffs will asymptomatic pool decrease? Programs always start conservatively and then change What to do with existing cases, mixed messages?
40 January 29, Insurance 50% Medicaid/ NY, CA, Centers not accepting of non-private insurance BMT centers and SCC included; cherry pick patient pool Reauthorizations every few months; paperwork/time sink Asymptomatic kids questioning why need MRIs? Identify adrenal insufficiency to create dx? Hard to convince insurance companies; role for advocacy? Idea of nurse practitioner or work through PCP for some assessments; targeted use of SCC
41 January 29, Short Term Follow-up MN: Centers not following through on work up Initial work up done and then put out to pasture, doesn t do the follow-up and monitoring. How are Centers assigned? By referral pattern? By location? By insurance designation? Need a minimum requirements for Centers What is the incentive to be on the list? Referral, treatment, initial work up, reimbursement responsibilites
42 January 29, LTFU Annual assessment by contractual obligation? CA model Need reminders for annual visit Nurse Practitioner/PCP telegenetics model for visit? MN talking to families to see how often they want to be contacted yearly reminder?? Want to be called, want information How straightforward is the follow-up for ALD? Is it like others on the panel or not? Whose responsibility is it to be sure the family follows up with the required check ups. (NBS, providers, SCC, family) Nurse practitioner? Would put in clinic to relieve workload Refer to other families and advocacy groups?
43 January 29, Role of Public Health in LTFU Public health questions are okay Clinical questions are more intrusive Concern govt is getting information. What are they doing with it? In NY IRB needed; can work through IRBNet; part of reg? CA calls it Program Evaluation; IRB exempt Tie LTFU to funds for centers? Mutation classification (VOUS v. polymorphisms changes); How do we re-contact? Who enters the data? Who owns the data? Who ensures the quality? EMR extraction? Knowledge driven?
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