For professionals

Ongoing developments

1. Expanded newborn screening

Until recently, Newborn screening for BD included detection of 3 metabolic diseases, it has been extended to 5 including,

Phenylketonuria
Galactosemia
Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCAD)
Long Chain 3 Hydroxyacyl-CoA Dehydrogenase deficiency (LCHAD)
Glutaric aciduria type I (GA-I)

With the availability of new methods (tandem mass spectrometry, TMS), it has become possible to screen for up to 30 additional treatable metabolic diseases. Newborn screening by TMS has been introduced in various European countries and US states. For Canada, Ontario made the political decision to expand new born screening by TMS only this summer. In BC, newborn screening has partly been expanded. This and the intended further expansion of newborn screening to more than 20 other metabolic disorders has brought, and will bring about a significant increase in patient numbers.

2. Increasing availability of new treatment strategies

In the last few years, several new treatment strategies have become available for patients with previously untreatable metabolic inborn errors of metabolism. These treatments include enzyme replacement therapy, substrate reduction therapy, co-factor therapy, and neurotransmitter supplementation therapy. Most of these treatments are extremely expensive (e.g., enzyme replacement therapy per patient can cost $500,000 or more per year) and need careful monitoring and documentation of clinical response and long-term outcomes.

3. No successful treatment without patient compliance

One of the major determinants of treatment outcome is compliance of parents and the affected child. Handling of treatment is a complex issue and demands a high degree of understanding of the disease and treatment mechanisms from the side of the parents (caregivers). Cultural background and socioeconomic situation of families may often influence the outcome than the complexity of the treatment by itself. Therefore, research focused on understanding the sociocultural factors of treatment compliance is a crucial complement to natural sciences.

As a team, we provide the best strategies to ensure compliance in all our patients. This will require increasing human resources in the near future.

Updated 19 June, 2008

Links

Privacy

PHSA improves the health of British Columbians by seeking province-wide solutions to specialized health care needs in collaboration with BC health authorities and other partners. For more information, visit http://www.phsa.ca

PHSA agencies include: BC Cancer Agency, BC Centre for Disease Control, BC Children’s Hospital and Sunny Hill Health Centre for Children, BC Mental Health & Addiction Services, BC Provincial Renal Agency, BC Transplant, BC Women’s Hospital & Health Centre, and Cardiac Services BC.