[Report: assessment of the relevance of newborn blood spot screening for biotinidase deficiency (BIOT)]

Blancquaert I, Brunet J, Girard N
Record ID 32018000862
French
Original Title: Avis: dépistage des erreurs innées du métabolisme
Authors' objectives: The Ministère de la Santé et des Services sociaux (MSSS) asked the Institut national d'excellence en santé et en services sociaux (INESSS) to assess the advisability of adding blood spot screening for nine inborn errors of metabolism to Québec's neonatal screening program. The relevance of screening for biotinidase deficiency (BIOT) is addressed in this report.
Authors' recomendations: 1. INESSS DOES NOT RECOMMEND: adding beta-ketothiolase deficiency (βKT) screening using tandem mass spectrometry to the blood platform in Québec’s neonatal screening program. 2. INESSS DOES NOT RECOMMEND: adding biotinidase deficiency (BIOT) screening using the enzyme test to the blood platform in Québec’s neonatal screening program. However, the relevance of newborn BIOT screening should be reassessed when advances have led to a better-performing screening test that permits better patient classification. 3. INESSS DOES NOT RECOMMEND: adding beta-ketothiolase deficiency (βKT) screening using tandem mass spectrometry 4. INESSS RECOMMENDS: adding carnitine uptake deficiency (CUD) screening using tandem mass spectrometry 5. INESSS DOES NOT RECOMMEND: adding classical galactosemia (GALT) screening to the blood platform in Québec’s neonatal screening program. 6. INESSS DOES NOT RECOMMEND: adding holocarboxylase synthetase deficiency (HCS) screening to the blood platform in Québec’s neonatal screening program. 7. INESSS RECOMMENDS: adding classical homocystinuria (HCY) screening to the blood platform in Québec’s neonatal screening program. The use of a second-tier test would reduce the number of false-positive results. 8. INESSS DOES NOT RECOMMEND: adding tandem mass spectrometry-based screening for 3-hydroxy-3-methylglutaric aciduria (HMG) to the blood platform in Québec’s neonatal screening program. 9: INESSS DOES NOT RECOMMEND: adding tandem mass spectrometry-based neonatal screening for isovaleric acidemia (IVA) to the blood platform in Québec’s neonatal screening program 10. INESSS DOES NOT RECOMMEND: adding neonatal MSUD screening using tandem mass spectrometry to the blood platform in the Québec Neonatal Blood and Urine Screening Program. However, the relevance of neonatal MSUD screening could be reassessed should organizational changes be made to Québec’s screening program, such as improving the turnaround times for results.
Authors' methods: To evaluate the advisability of adding newborn BIOT screening to Québec’s neonatal screening program, we conducted an exhaustive scientific literature search, with no restrictions on study design. Contextual and experiential data were gathered from experts, patients, parents or caregivers of IEM patients, and members of the general public. All the data (scientific, contextual and experiential) were submitted to the Comité d’excellence clinique for deliberation with a view to drawing up the final recommendation.
Details
Project Status: Completed
Year Published: 2019
Requestor: Minister of Health
English language abstract: An English language summary is available
Publication Type: Full HTA
Country: Canada
Province: Quebec
MeSH Terms
  • Metabolism, Inborn Errors
  • Neonatal Screening
  • Infant, Newborn
  • Biotinidase Deficiency
Contact
Organisation Name: Institut national d'excellence en sante et en services sociaux
Contact Address: L'Institut national d'excellence en sante et en services sociaux (INESSS) , 2021, avenue Union, bureau 10.083, Montreal, Quebec, Canada, H3A 2S9;Tel: 1+514-873-2563, Fax: 1+514-873-1369
Contact Name: demande@inesss.qc.ca
Contact Email: demande@inesss.qc.ca
Copyright: Gouvernement du Québec
This is a bibliographic record of a published health technology assessment from a member of INAHTA or other HTA producer. No evaluation of the quality of this assessment has been made for the HTA database.