GeneproDX is a molecular diagnostics company based in Santiago, Chile, that focuses on the development of molecular diagnostics tests to aid in the management of patients with an indeterminate diagnosis of a thyroid nodule. Biocartis and GeneproDX announced their partnership agreement on November 3, 2020, focused on the development of GeneproDX’s novel genomic test ThyroidPrint® on the Idylla Platform.
Thyroid Cancer
The thyroid gland is a small organ located in the lower front of the neck. The thyroid gland produces three hormones that control important metabolic processes in the body.
Thyroid nodules are small lumps in the thyroid gland that are commonly observed in adults.1 While most thyroid nodules are benign, a proportion is caused by thyroid cancer. Typically, thyroid nodules are first assessed by measurement of thyroid hormone levels in the blood and by ultrasound.
If a thyroid nodule meets certain criteria, a fine needle aspirate (FNA) biopsy is recommended. A small number of cells are taken from the thyroid gland for microscopic analysis performed by a pathologist to determine if there is presence of cancerous cells.
Approximately 70% of FNAs are reported as benign (non-cancerous), while cancer cells are found in approximately 10% of FNAs, in which case the thyroid gland is surgical removed. The remaining 20% of results are indeterminate, meaning that no definitive diagnosis can be given.2 The diagnostic challenge of an indeterminate thyroid nodule is that the risk of malignancy is approximately 25%, and most frequently, surgery is recommended to provide definitive diagnosis.3 Since 75% of indeterminate nodules are benign, diagnostic surgery unnecessarily exposes thousands of patients to potential short term (surgical complications) and long-term side effects (need for permanent hormone replacement therapy) every year.
- 1https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2877029/
- 2Faquin WC, Bongiovanni M, Sadow PM 2011 Update in thyroid fine needle aspiration. Endocrine pathology 22:178‐183.
- 3S. Vargas-Salas et al., Genetic testing for indeterminate thyroid cytology: review and meta-analysis, 2018, Endocrine-Related Cancer, https://erc.bioscientifica.com/
Annually, approximately 1.2 million thyroid cytology evaluations are reported as indeterminate.1 To address this unmet need, GeneproDX has developed ThyroidPrint®, a qRT-PCR based mRNA-expression classifier test that predicts whether a thyroid nodule with an indeterminate cytology result is benign with a negative predictive value of 95%. This means that a benign result reduces the risk from 25% to less that 5%, allowing physicians to recommend watchful waiting as an alternative to diagnostic surgery.2 This prevents exposing patients to surgical risks and permanent thyroid hormone supplementation. Moreover, it significantly reduces health costs associated with unnecessary surgery.3
- 1Haugen BRM, Alexander EK, Bible KC, Doherty G, Mandel SJ, Nikiforov YE, Pacini F, Randolph G, Sawka A, Schlumberger M, Schuff KG, Sherman SI, Sosa JA, Steward D, Tuttle RMM, Wartofsky L 2015 2015 American Thyroid Association Management Guidelines for Adult Patients with Thyroid Nodules and Differentiated Thyroid Cancer. Thyroid: official journal of the American Thyroid Association
- 2https://thyroidprint.com/en/home-us/, last consulted on 22 October 2020
- 3S. Vargas-Salas et al., Genetic testing for indeterminate thyroid cytology: review and meta-analysis, 2018, Endocrine-Related Cancer, https://erc.bioscientifica.com/
GeneproDX’s ThyroidPrint® was initially clinically validated in a multicenter trial in Chile, after which it was launched in Latin America1 in September 2018. Furthermore, the test was clinically validated in a second independent multicenter, prospective trial in the US in December 2019, demonstrating that ThyroidPrint® performs in the same manner in populations with different ethnicities and genetic backgrounds.2 Currently, a new international validation study is ongoing, including an estimated 200 individuals with indeterminate cytology results, in leading academic sites in Europe, the US and Latin America.
ThyroidPrint® is currently offered as a Laboratory Developed Test in GeneproDX’ CAP accredited laboratory in Santiago de Chile (Chile). The Idylla™ ThyroidPint® Assay, run on the Idylla™ Platform, was launched in April 2024.
- 1S. Vargas-Salas et al., Genetic testing for indeterminate thyroid cytology: review and meta-analysis, 2018, Endocrine-Related Cancer, https://erc.bioscientifica.com/
- 2M. Zafereo et al., A Thyroid Genetic Classifier Correctly predicts benign nodules with indeterminate cytology: two independent multicenter, prospective validation trials
What our Partner says about the collaboration
From the beginning, our primary motivation at GeneproDX has been to make the highest quality precision medicine accessible to the entire world. Global availability of multianalyte genomic testing has been limited by the high complexity of testing, and Biocartis is the partner we were looking for to simplify our testing process, reduce the cost and provide global access. Our ThyroidPrint® test is expected to help avoid thousands of unnecessary thyroid surgeries and the Idylla™ System is an amazing fit for our mission. Furthermore, this partnership has added new value to GeneproDX and helped us in our financing efforts, providing reassurance to our shareholders that we are on the correct pathway to a very successful business. Working with the Biocartis R&D team has been an excellent experience. It has allowed us to build new capabilities that both companies can leverage for the future development of new assays.
Hernan Gonzalez MD, PhD, Founder – CEO, GeneproDX
