Sharing research, clinical practice insights and networking continued at the second day of Individualizing Medicine 2016: Advancing Care Through Genomics, a conference sponsored by the Mayo Clinic Center for Individualized Medicine.

The 100,000 Genomes Project

Mark Caulfield, FMedSci., opened the morning session with an update about the 100,000 Genomes Project, the United Kingdom’s version of the Precision Medicine Initiative Cohort in America. Caulfield is the chief scientist for the 100,000 Genomes Project, which seeks to transform patient care and advance research into rare diseases and cancer.

Former British Prime Minister David Cameron created the Project in 2012. The goal is to one day offer a diagnosis for conditions where there so far has been none and, in time, offer new, effective individualized treatments. The target is to sequence 100,000 whole genomes by 2017. To date, more than 12,000 patients have been sequenced.

“To ensure collaboration and adoption of new genomic findings, we have aligned providers in our 13 centers of excellence within our National Health System with our researchers, all working together to find better treatments for rare diseases, cancer and infection,” says Caulfield.

How will this project benefit patients?

Caulfield provided many examples, including a story about a young girl named Jessica, who had experienced developmental delays and seizures since she was four months old. At age 4, Jessica was enrolled in the 100,000 Genomes Project, and as a result, her parents were able to receive a diagnosis which led to treatment that reduced her seizures and improved her development.

“Imagine If Jessica would have had her genome sequenced even earlier.We could have provided treatment when she was four months old rather than four years old. That is the benefit that genomics offers,” explains Caulfield.

Asked what advice he would give to those overseeing the Precision Medicine Initiative Cohort Program, Caulfield quickly responded, “Standardize everything. Otherwise, you get apples and pears – and even though they are both fruit, they are very different. If you standardize, we can share data globally. None of us is going to solve these issues alone, we will do it together.”

Genomes, Autism, and More

How can genomics help unlock some of the mysteries behind autism spectrum disorder (ASD)?

“Genomic analysis has already provided insights for us to better understand autism, a complex disease that encompasses 100 different disorders. These findings will also provide insights into other conditions such as schizophrenia, attention deficit disorder and obsessive compulsive disorder,” explains Stephen Scherer, Ph.D., D.Sc., senior scientist and director, University of Toronto McLaughlin Centre and Centre for Applied Genomics at SickKids.

In his presentation, Dr. Scherer shared some of the insights genomics has provided:

• 18 percent of siblings of autistic patients are at risk for developing the disorder
• Lots of genes, not just one, are involved with ASD
• Many genes found in ASD are found in other neurodevelopment disorders
• Ratio of autistic individuals is four males to every female
• Approximately 20 percent of cases of ASD are genetic
• About 20 percent of parents of an autistic child also have some form of ASD
• Researchers need more ASD genomes sequenced to increase understanding

“Our hope is that genomics will offer better diagnostic tools and the opportunity for earlier intervention,” adds Dr. Scherer.

More than 700 attendees, many who are physicians, researchers,  and biotechnology innovators, took advantage of outstanding plenary sessions and focused breakout sessions to learn how to bring precision medicine to patients.

The conference wraps up with concurrent sessions tomorrow.

Keep the conversations going

For a wrap up and summary of  news related to the conference on the Center for Individualized Medicine, visit our blog, Facebook, LinkedIn or Twitter at @MayoClinicCIM and use the hashtag #CIMCon16.

The Mayo Clinic Center for Individualized Medicine is hosting the conference with support from the Satter Foundation.

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