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We read with interest the CMAJ commentary “Health Canada needs to act on laboratory-developed diagnostics” and agree enthusiastically with the authors’ assertation that the Canadian regulatory system must be updated to address issues arising as molecular diagnostic technologies are developed and adopted. However, we wish to highlight another class of tests, which need to be considered, especially in precision health and the context of rare diseases, a common issue in children. These are tests performed in specialized research laboratories which due to the complexity of specific assays and/or the low number of cases, cannot currently be feasibly implemented in clinical laboratories or developed as a laboratory developed test (LDT). As an example, RNA sequencing can detect fusions between two unrelated genes in a tumour. The detection of certain rare fusion proteins may support the use of molecularly targeted drugs in otherwise chemotherapy-resistant deadly tumours. Not all genetic findings can be validated due to technique, especially when variants are rare or unique to an individual. Moreover, retesting and validation adds a considerable financial burden. Under the current Ontario regulations (1) this type of research testing would be unavailable to patients as the results must be validated in an accredited clinical laboratory before use for diagnosis or treatment. While we recognize the need for regulatory guidelines and oversight, we also need to acknowledge the important balance of enabling access to novel tests that may provide new or refined diagnoses and treatments impacting patients with no other options.
At the Hospital for Sick Children, a multi-disciplinary group of clinicians, scientists, legal experts and ethicists have formed the ENACT (ENAbling Clinical Translation) committee, which is developing institutional guidelines and policies to address issues related to return of research results and regulatory gaps. We believe this type of local oversight is a critical first step and that new systems of federal or provincial regulatory oversight for research tests and LDTs should be nimble and capable of rapid adjustment to the ever-changing landscape of advancing health care technologies, similar to the concept of a “regulatory sandbox” proposed for innovative health care products in the 2019 federal budget (2) (https://www.budget.gc.ca/2019/docs/plan/toc-tdm-en.html). Our collective goal is to foster rapid changes in health care and provide an agile, innovative and safe healthcare system in Canada that provides access to state of the art diagnostics and therapies for all Canadian children and adults.
(1) Laboratory and Specimen Collection Centre Licensing Act, R.S.O. 1990, c. L.1
(2) Investing in the Middle Class, Canadian Federal Budget 2019, Tabled in the House of Commons by the Honourable William Francis Mourneau, P.C., M.P, Minister of Finance, March 19, 2019, Chapter 2, Part 5.