The participation of researchers in a CETT Program Collaborative Group benefits everyone. By making sure their research discoveries move to a clinical test, researchers help meet the needs of patients, families and clinicians who have supported their research effort. While the collaboration supports development of clinical testing, research resources can be used to search for new mutations, new genes and potential therapies. Clinical testing may help increase the identification of new research participants for clinical research studies. The researcher can also ensure that clinical and mutation data continue to be collected and deposited in public databases for future research. The CETT Program now provides financial support to encourage researchers to participate in test translation (see What's New).

"The collaboration has been extremely beneficial, and this benefit will likely increase markedly over the next several months once more patients are entered and analyses are completed…My interest in cardiac genetics and ARVC in particular were already known to my cardiac specialist colleagues, but the ability to provide in-house ARVC genetic testing has highlighted that interest, specialization and service. For other researchers considering test translation, the involvement of a clinician (myself), basic scientist interested in gene expression (in this case myself), research geneticist (S. Scherer), clinical laboratory geneticist (P. Ray) and a patient support group (SADS Canada) have all been beneficial." Robert Hamilton, Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC), The Hospital for Sick Children, Toronto, Canada

"We interact on complicated cases (i.e. novel mutations). The diagnostic lab has also helped us in testing some families who needed more urgent screening than could be offered in our research lab …We have had a very open back and forth communication with the diagnostic lab that has been mutually beneficial. Families in which a mutation has not been identified through the clinical testing are often referred to us for further research testing…this is ideal, as we do not need to burn through resources testing for genes available clinically on a research basis in the lab, but we are very interested in those families with CdLS with unknown molecular causes to use for screening novel methodologies and novel candidate genes. It (test translation) lifts a huge burden of responsibility off the investigator’s back and should be wholeheartedly pursued..." Ian Krantz, Cornelia de Lange Syndrome (CdLS), The Children’s Hospital of Philadelphia, Pennsylvania, US

"In dealing with a metabolic disease, the correlation of biochemical results with mutation data is invaluable in studying disease expression." Richard Kelley, X-linked dominant chondrodysplasia punctata (CDPX2), Kennedy Kreiger Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland, US

"We have found this collaboration very beneficial because it brings together people from different expertise who are working towards the same goal of bringing up clinical testing…This helps the patients as well as helps thinking through, the possible next steps with respect to the research that could further help patients and increase our understanding of the disease under study. It also gives us an opportunity to be involved with the patient advocacy group…With respect to the research we can now concentrate on the development of the other aspects of the research when the common mutations can very easily…be tested in the clinical lab." Maimoona Zariwala, Primary Ciliary Dyskinesia, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, US

"The collaboration has been beneficial to us in several ways. Now that the testing is available clinically, the research resources are not directed to routinely sequencing samples. Rather through research we can increase our understanding of the structure and function of FLNA and other genes with which it interacts. This work may lead to the identification of additional genes responsible for other rare conditions. We feel this is also a benefit to patients who now have a one-step process for genetic testing of FLNA with a pre-determined turnaround time. Testing through the research lab necessitated confirmation in a clinical lab and this lead to increased sample draws and time for results to be obtained…The CETT program greatly facilitates and streamlines the process of translation of research-based genetic testing to clinical use. It is very helpful to have a close working relationship with the clinical laboratory and its staff as newly available testing will often result in a number of previously unidentified variants that will require cooperation between the clinical and research labs for proper interpretation…The mock test result forms have been very helpful and the website clearly explains the application process." Brenda Barry, X-linked Periventricular Nodular Heterotopia, Children’s Hospital Boston, Boston, MA, US

"The collaboration has been very beneficial. The establishment of regional genetic testing resources for FSGS has been a major breakthrough in our clinical approach to patients with FSGS…The CETT Program Staff have been very helpful. The Review Board's comments were constructive." Tino Piscione, Focal Segmental Glomerulosclerosis (FSG), The Hospital for Sick Children Research Institute, Toronto, Canada