November Janet Marcadier, MSc, CCGC, CGC Genetic Counsellor Newborn Screening Ontario, Children s Hospital of Eastern Ontario

Transcription

1 November 2012 Janet Marcadier, MSc, CCGC, CGC Genetic Counsellor Newborn Screening Ontario, Children s Hospital of Eastern Ontario

2 Objectives 1. To outline the provincial advisory committee structure 2. To summarize the process of addition to the newborn screening panel 3. To discuss severe combined immunodeficiency deficiency (SCID) as a model disorder

3 Provincial Advisory Committee Structure Ministry of Health and Long Term Care Maternal Child Youth Health Strategy Provincial Council for Maternal Child Health (PCMCH) Better Outcomes Registry & Network (BORN) Maternal Newborn Advisory Committee Child & Youth Advisory Committee Maternal Child Screening Cmte Maternal/ Newborn Outcomes Child & Youth Outcomes Ontario Congenital Anomalies Prenatal Screening Subcommittee Newborn Screening Subcommittee # Dashboard Subcommittee Neonatal Subcommittee Genetics Subcommittee # also advisory to Newborn Screening Ontario

4 Newborn & Childhood Screening Committee Addition Process Task Force: Dr. Beth Potter Dr. Tony Rupar Dr. Andrew Latchman Dr. Michael Geraghty

5 Ontario NBS menu: Process Nomination (Form1); MOHLTC, NCSC/MCSC, Specialists, Support Groups, Individual Initial Review by NCSC (Form 2) Rejection or Request for more Information Full Review by Task Force (Form 3, literature/evidence review Presentation and Discussion of Full Review Recommendation to MCSC Rejection or Request for more Information Recommendation to PCMCH Decision by MOHLTC and NSO to Implement Rejection or Request for more Information

6 Form 1 Nomination of a condition for consideration for addition to the newborn screening panel in Ontario 1. What condition do you nominate?. 2. What group of physicians provides care for patients who have the condition (examples: endocrinologists, hematologists, don t know)? 3. Do you know of a patient or family support group that has an interest in this condition? Please give the name of the group or groups. 4. Do you know if there is a test for this condition? If so, what is the test? 5. Is there a treatment for this condition? If so, what is the treatment? Do you know if the treatment is available in Ontario? 6. Do you know of any other jurisdictions (in Canada or internationally) that screen for this condition in newborns or children (if so, please list)? 7. Do you have any other comments you would like us to consider or any questions for us? 8. If you would like a response to your nomination, please provide contact information ( address or postal address):

7 Form 3 Template for a full review process for a condition being considered for addition to the newborn/child screening panel A. THE CONDITION Case definition Condition frequency Natural history and severity

8 Form 3 B. THE TEST simple, safe, precise, and validated screening test test values in the target population should be known and a suitable cut-off level defined and agreed acceptable to the population policy on the further diagnostic investigation of individuals with a positive screening test result criteria used to select the subset of mutations to be covered by screening should be clearly set out

9 Form 3 C. THE TREATMENT effective treatment or intervention for patients identified through early detection, with evidence of early treatment leading to better outcomes than late treatment. policies covering which individuals should be offered treatment and the appropriate treatment to be offered. clinical management of the condition and patient outcomes should be available to newborns/children with the condition before population screening is initiated.

10 Form 3 D. SOCIETAL CONSIDERATIONS effective in reducing mortality or morbidity. clinically, socially, and ethically acceptable to health professionals and to the public. benefit outweighs the physical and psychological harm (caused by the test, diagnostic procedures, and treatment). cost should be economically balanced in relation to expenditure on medical care as a whole.

11 SCID: The case for Newborn Screening Nominated: Task Force: Dr. Chaim Roifman (Immunologist) Canadian Immunodeficiency Foundation Dr. Tony Rupar Dr. Chaim Roifman Dr. Beth Potter Dr. Michael Geraghty

12 Severe Combined Immunodeficiency (SCID) PRESENTATION: 4-12 months Chronic diarrhea Pneumonitis (PCP, CMV) FTT Oral thrush Lack of palpable lymph nodes

13 Proposed SCID NBS flow chart NBS TREC analysis 147,000 specimens TREC low repeat with Ref gene 409 TREC normal Not SCID TREC low, Ref gene normal Term: 1 sample Preterm: 2 samples Refer to NBS Centre 52 TREC low, Ref gene low, Repeat 244 TREC normal +/- Ref gene normal, Not SCID 113 TREC low, Ref gene normal - Refer to NBS Centre 1 TREC normal +/- Ref gene normal Not SCID 243 Regional centre retrieves baby for peds assessment, CBC, Flow Cytometry etc 53 Refer true positives to Pediatric Immunology Clinic in Toronto 23

14 Criteria for Newborn Screening Screening criteria Disease is serious Disease is not detected by physical exam Why SCID meets criteria Fatal unless definitive treatment SCID babies look normal at birth Incidence supports screening Presumed incidence around 1/60,000 Well established confirmatory test Efficient treatment exists Earlier treatment is better Diagnosis and treatment available Cost Effective Flow cytometry/functional assays/molecular BMT (enzyme replacement therapy, gene therapy) Survival 95% if BMT at <3.5 months of life Both available at many centers Inexpensive high through put test could save many lives

15 Newborn Screening for SCID in Ontario On Jan 20, 2012, the Ontario Newborn and Childhood Screening Sub Committee unanimously recommended newborn screening for Severe Combined Immunodeficiency in the province of Ontario. On April 12, 2012, the Ontario Maternal Childhood Screening Committee unanimously recommended newborn screening for Severe Combined Immunodeficiency in the province of Ontario. It was then endorsed by the Provincial Council Maternal Child Health (PCMCH) and is now with the Ministry of Health and Long Term Care to review.

16 Next steps 1) NBS Addition Process Cyanotic Congenital Heart disease 2) NBS Panel Review Process Task Force: Dr. Murray Potter Dr. Beth Potter Janet Marcadier Dr. Michael Geraghty Dr. Richard Van Wylick Dr. Osama Aldirbashi Dr. Andreas Schultze

17 Dr. Michael Geraghty Dr. Beth Potter Dr. Andrew Latchman Dr. Tony Rupar Jennifer Milburn Newborn and Childhood Screening SubCommittee Newborn Screening Ontario

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