Universal genetic test for personalized medicine
Many diseases are caused by rare or complex mutations that are missed by current genetic tests. The Chan Lab has developed haplotagging, a new genome sequencing technique, to detect the full spectrum of mutations. By sequencing 150 participants, it has been shown that haplotagging delivers complete genomes more affordably and more accurately.
Prof. Frank Chan, Genomics, genomics and quantitative biology
"Collaborating with Lifelines has been crucial in our goal to improve genetic testing on a population scale on the way towards data driven health care. Our project tackles the challenge of detecting rare or complex mutations that are so often ignored. With Lifelines, we gained valuable experience in how well our versatile sequencing technique performs relative to the current benchmark, demonstrated in no small part thanks to Lifelines’s multigenerational design. We can’t be happier with the fantastic results and this collaboration."
Background
Personalized medicine is an innovative approach to healthcare that seeks to customize medical treatment to the individual characteristics of each patient. Genetic testing is a cornerstone of personalized medicine. It involves analyzing an individual'sDNA to identify genetic variations that may influence their health. These variations can affect how a person responds to certain medications, their susceptibility to specific diseases, and the progression of illnesses. By understanding these genetic differences, healthcare providers can develop more effective, personalized treatment plans. Traditional genetic tests focus on common genetic mutations that are easier to detect. However, many diseases are caused by rare or complex mutations that these tests can miss. These undetected mutations can lead to incomplete or inaccurate diagnoses, which in turn can result in suboptimal treatment plans.
Impact for more healthy years
This work points a new way forward for delivering genetic testing and thus recommending the optimal care according to each person's genetic make-up.