In 2017, a Nature paper got a lot of attention due to the claim by the Stanford authors that the CRISPR-based gene editing technique may cause widespread genetic damage when used in vivo. The authors have just retracted this paper, after concerns were raised that the proper controls had not been employed.
23andMe CEO Anne Wojcicki has published an Op-ed critique of the position that consumers cannot interpret their own genetic risk scores. Recently, the FDA approved 23andMe’s genetic test for inherited cancer. There was some criticism of this, which Wojcicki compares to the warnings forty years ago that women might not be able to handle the results of those first home pregnancy tests.
Richard Beauchamp is cancer free despite his pancreatic cancer diagnosis in 2014. Beauchamp learned that, in his case, his French Canadian genes held a clue to an effective treatment when he enrolled in the pan-Canadian clinial trial EPPIC. EPPIC aims to sequence the tumours of pancreatic cancer patients across the country and provide personalized treatment based on their particular subtype of the disease. Beauchamp and others are seeing the benefits of this approach.
With $4.4M in new funding, Dr. Richard Kim and team at Lawson Health Research Institue (LHSC) will follow patient outcomes and assess the cost-effectiveness of LHSC’s personalized medicine program, providing evidence on the relationship between the cost of the program and how patient care is improved. This program focuses on pharmacogenomics, the study of genetic changes that alter the way a person responds to individual drugs.
Andre Picard, commenting on the recent report on Canada’s Personal Genome Project, suggests that genomics has entered its frustrating adolescent phase. This study found that our genome “is a lot more messy and unpredictable than anyone could have imagined. Like a typical teenager.”
Scientists leading Canada’s Personal Genome Project say they have taken the deepest dive possible into human DNA, conducting the most thorough analysis that current computing allows on the whole genome sequences of 56 Canadians. Their investigation shows how much we still have to learn.
Fabry disease is a rare genetic disease caused by a deficiency in the enzyme alpha-galactosidase A (a-Gal A) that causes a buildup of a specific type of fat in the body. Galafold™ (migalastat), a new oral drug to treat some patients with Fabry disease, has just received a positive recommendation by the CADTH Common Drug Review for reimbursement and listing with provincial drug formularies.
A new nanopore technology for direct sequencing of long strands of DNA has resulted in the most complete human genome ever assembled with a single technology, scientists have revealed. The research, published today in Nature Biotechnology, included scientists from the University of British Columbia and the Ontario Institute for Cancer Research (Jared Simpson, pictured above). Using an emerging technology – a pocket sized, portable DNA sequencer – the scientists sequenced a complete human genome, in fragments hundreds of times larger than usual, enabling new biological insights.
It’s not just diet and physical activity; your genes also determine how easily you lose or gain weight. Researchers at the Icahn School of Medicine at Mount Sinai and other institutions of the Genetic Investigation of Anthropometric Traits (GIANT) consortium found 13 genes that carry variations associated with body mass index (BMI). Some genes were linked to people who weighed above the average, and some below, and 8 of the 13 were newly implicated in obesity.
The use and recommendation of chemotherapy for women with both node-negative and node-positive early-stage breast cancer has declined in recent years, according to a recent survey. One of the survey authors, Dr. Allison Kurian, said in a press release “This likely reflects a change in the culture of how physicians are practicing, and a move toward using tumor biology to guide treatment choices rather than solely relying on clinical measures.” Lead author Dr. Steven Katz adds “Our study shows how breast cancer is a model for how doctors have driven advances in personalized medicine into the exam room to reduce overtreatment.”