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Newborn Screening by Tandem Mass Spectrometry: Impacts, Implications and Perspectives
François Rousseau, Yves Giguère, Marie-Thérèse Berthier, Dominique Guérette, Jean-Guy Girard and Michel Déry


Development and description of GETT: a genetic testing evidence tracking tool
Rousseau F, Lindsay C, Charland M, Labelle Y, Bergeron J, Blancquaert I, Delage R, Gilfix B, Miron M, Mitchell GA, Oligny L, Pazzagli M, Mamotte C, Payne D; IFCC Scientific Division Committee on Molecular Diagnostics. Clin Chem Lab Med. 2010 Oct;48(10):1397-407. Epub 2010 Jul 27. PMID: 20658948


BACKGROUND:
The completion of the Human Genome Project has increased the pace of discovery of genetic markers for disease. Despite tremendous efforts in fundamental research, clinical applications still lag behind expectations, partly due to the lack of effective tools to systematically search for and summarize published data relative to the clinical assessment of new diagnostic molecular tests.

METHODS:
Through a collaborative process using published tools and an expert panel, we developed a detailed checklist of the evidence that needs to be collected or produced to evaluate the potential usefulness of a new molecular diagnostic test. This tool is called GETT, for Genetic testing Evidence Tracking Tool.

RESULTS:
GETT allows 1) researchers to summarize the current evidence and to identify knowledge gaps for further research and; 2) stakeholders to collect data related to a given molecular test and improve their decision-making process. GETT comprises 72 clearly defined items/questions, grouped into 10 categories and 26 sub-themes, including an overview of disease epidemiology and genetics, the available diagnostic tools, and their analytical and clinical performances, availability of quality control programs, laboratory and clinical best practice guidelines, clinical utility, and impact on health care and psycho-social, ethical and legal implications. It also includes a summary of the evidence available and attempts to prioritise knowledge gaps related to the testing. We also compare GETT to other existing frameworks.

CONCLUSIONS:
This systematic evidence-based tracking tool, which is more detailed than existing frameworks and provides clear definition for each item, will help streamline collection of the available evidence to appraise the potential for clinical application of new molecular diagnostic tests and prioritize research to produce the evidence-base relative to the clinical implementation of molecular diagnostic tests.

Download the GETT template below :
A guide supporting decision-making regarding population-based genetic screening
Developing policies and reaching decisions regarding the implementation of screening programs or pilot projects are challenging endeavours which require consideration of multiple issues and types of evidence. A review and critical analysis of existing criteria and focus group discussions with various stakeholders regarding criteria and decision-making processes were undertaken by the genetics unit at the Quebec Agence d'Évaluation des technologies et des modes d'intervention en santé (AETMIS). The APOGEE-Net network was instrumental in ensuring input from an even broader range of actors, including policy-makers, thus allowing the development of a truly interdisciplinary decision support guide. A detailed account of the systematic and participative methodology used was published in Public Health Genomics. The guide proposes an original and structured approach to the analysis of evidence and values with a view to facilitating the appreciation of benefits and risks from the individual and collective perspectives.

To obtain a copy of the decision guide, please register at info@cangenetest.org.