July 7th, 2021

// A world first – Thanks to genomics and artificial intelligence, it is now possible to predict the risk of people with type 2 diabetes of developing heart and kidney complications.

A world first - Thanks to genomics and artificial intelligence, it is now possible to predict the risk of people with type 2 diabetes of developing heart and kidney complications.

MONTREAL, July 7, 2021 /CNW Telbec/ - A study1 published today in the prestigious science journal Diabetologia (the Journal of the European Association for the Study of Diabetes [EASD]) states that it is now possible to "predict to prevent" several major type 2 diabetes related complications.

Diabetes increases the risk of serious cardiovascular and renal complications that have huge consequences on patients' quality of life and significantly increase healthcare costs. Thanks to genomic data and artificial intelligence, we can now predict the risk of developing complications before the first symptoms appear. Early risk prediction could lead to timely and more efficient intervention in patients at high risk.  

A research team led by Dr Pavel Hamet and Dr Johanne Tremblay of the Centre de recherche du centre hospitalier de l'Université de Montréal (CRCHUM), in collaboration with the company OPTITHERA, selected nearly 600 genetic variants associated with cardiovascular and renal diseases in more than one million people. They developed a new genetic health risk test by analyzing the clinical and genetic data of participants from 17 countries of the ADVANCE trial, one of the largest clinical studies in the world, involving patients with diabetes.

"Over the five-year period of the clinical trial, 20% of people in the genetic high-risk group died from cardiovascular problems compared to only 5% in the low-risk group. Our genetic health risk test also allowed us to identify the people most at risk of developing diabetic nephropathy" said Dr Pavel Hamet.

Moreover, this study showed that the ADVANCE intensive treatment, which consisted of strict blood pressure and glycemic control, had a beneficial effect on high-risk patients in particular. The number needed to treat (NNT) was only 12 (p = 0.006) for high-risk patients compared to 64 (not significant) for low-risk patients. "Our genetic health risk test combined with the ADVANCE intensive treatment allowed a 47% reduction in the mortality rate from cardiovascular disease in the high-risk group. The new test developed by OPTITHERA was validated in four additional independent cohorts including the largest data bank in the United Kingdom (UK Biobank), two population studies, one in the Czech Republic and one in Canada and, in the Clinpradia Quebec cohort." added Dr Johanne Tremblay.

The study published today in Diabetologia demonstrates that this new polygenic risk prediction model allows for stratification of type 2 diabetes patients according to their risk of complications and timely identification of those who will most greatly benefit from intensive glycemic and blood pressure control.

"Moreover, a recent study2 published in March 2021 in the Canadian Journal of Diabetes concluded that our genetic health risk test for the prediction of renal complications in diabetes patients had two positive socio-economic impacts: it reduced healthcare costs and improved patients' quality of life (QUALY)," added Dr Martin Godbout.

"This significant study led by Dr Johanne Tremblay and Dr Pavel Hamet demonstrates the importance and impact of research lead by CHUM researchers and their collaborators," said Dr Vincent Poitout, Director of the CRCHUM.

"Through the combined strength of genomics and artificial intelligence, doctors will have access to a new tool to prevent complications in patients with type 2 diabetes. This new tool gives us a glimpse into what technological innovation can do for patient care," highlighted Dr Fabrice Brunet, President and CEO of the CHUM

"This scientific breakthrough in precision medicine made by two of our professors at the Faculty of Medicine at the Université de Montréalwill undoubtedly help to improve the quality of life of patients with diabetes" concluded Patrick Cossette, Dean of Medicine at the Université de Montréal.

The OPTITHERA test will be available in Canada soon. After several years of intensive research into diabetes, OPTITHERA will soon be able to offer Canadians a unique and effective test for predicting the risk of complications linked to this medical condition.

1. Tremblay J et coll., Hamet P, Diabetologia, , https://doi.org/10.1007/s00125-021-05491-7
2. Guinan K et coll., Can J Diabetes. 2021 Mar;45(2):129-136, https://www.canadianjournalofdiabetes.com/article/S1499-2671(20)30183-0/fulltext
3. Patel A, et coll. The Lancet 2007 370 : 829-840, https://pubmed.ncbi.nlm.nih.gov/17765963/


Dr Hamet is a researcher at the CRCHUM, professor of medicine at the University of Montreal, adjunct professor at the department of experimental medicine at McGill University, and visiting professor at the first faculty of medicine at Charles University in Prague, Czech Republic. He founded and directed the CRCHUM between 1996 and 2006. He founded the CHUM genetic medicine service and directed it for more than 15 years. Dr Hamet has authored more than 600 scientific papers on diabetes and hypertension. He is internationally recognized as a leader in personalized medicine for cardiometabolic diseases and was the holder of a Canada Research Chair in predictive genomics between 2006 and 2020.

ABOUT DR JOHANNE TREMBLAY, PhD, FAHA, FCAHS, Co-founder of OPTITHERA, Vice-President and Chief Scientific Officer 

Researcher at CRCHUM, professor of medicine at the University of Montreal, and fellow of the Canadian Academy of Health Sciences and the American Heart Association, Dr Johanne Tremblay has authored more than 300 scientific papers on diabetes, cardiovascular diseases, and personalized medicine. Dr Tremblay chaired the program committees of the first and second Congress on Personalized Health Care in Montreal with the participation of scientists from more than 25 countries.

Chief Executive Officer of OPTITHERA

Dr Godbout was the President and CEO of Genome Canada between 2000 and 2010. For more than 30 years, he has actively participated in the launch of several biotech companies in Canada. 


The Centre de recherche du Centre hospitalier de l'Université de Montréal (CRCHUM) is one of the main hospital research centres in North America. Its mission is to improve adult health through a continuum of research covering disciplines such as basic sciences, clinical research, and public health. 

More than 1850 people work at the CRCHUM, including more than 550 researchers and more than 460 post-graduate students. chumontreal.qc.ca/crchum


OPTITHERA was founded in 2014 by the Société de valorisation du CHUM and Dr Pavel Hamet. OPTITHERA is a precision medicine company focusing on the development and clinical applications of innovative technologies for the benefits of patients with diabetes. By combining genomic data with artificial intelligence, OPTITHERA has developed a new and simple genetic health risk test that is a decision-aid tool for healthcare providers treating patients with type 2 diabetes. 

Website: www.optithera.com 
Twitter : https://twitter.com/optithera



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