Accurate genetic testing can help clinicians provide more individualized treatments for their patients, and the more genetic information a researcher has access to, the more targeted treatments can be developed.
In March 2016, Ambry’s genetic data sharing program AmbryShare successfully collected de-identified genetic information for more than 10,000 individuals with hereditary breast and ovarian cancer and allowed opened access free of charge to scientific researchers and clinicians with the goal of helping clinicians improve their patient’s care.
Ambry is now asking psychiatrists, psychologists and behavioral specialists to encourage their patients and family members to sign up for AmbryShare as a step towards discovering the possible genetic associations with autism.
“The science behind AmbryShare is really based on the power of exome sequencing,” said Brigette Tippin Davis, PhD, Director of Emerging Genetic Medicine. “Only one percent of our genome codes for all of the proteins that actually make us function. What AmbryShare is doing is taking large-scale exome sequencing and applying it to specific diseases.”
Exome sequencing is a test that analyzes all of the parts of the genome that code for proteins. Everyone has normal variations in their genome that makes them unique, but some variations can interrupt the function of proteins in our bodies and lead to disease. AmbryShare is reviewing this exome data at a large-scale and identifying pattern among many people with the same disease. This big data can uncover similar patterns among a large group of patients and identify new underlying causes of diseases like autism.
So far, Ambry has partnered with Center for Autism and Related Disorders (CARD) to provide data for this study and hopes to collect more than 10,000 genomes from individuals with autism spectrum disorders.
“At CARD what we provide is Applied Behavior Analysis (ABA),” said Dennis Dixon, PhD, Chief Strategy Officer at CARD. “The approach within ABA is to individualize treatment always, to give every child, not a cookie cutter approach to treatment, but to do specifically what that child needs when they need it. Genetic testing would allow us to personalize that treatment from a genetic profile and optimize it.”
By accumulating massive amounts of genetic data from individuals with autism spectrum disorders, Ambry hopes to contribute a piece of the puzzle with clinical testing and open-access research. This research can ultimately help healthcare professionals understand more about the complex genetic contributions in autism spectrum disorders, which can provide better individualized treatment options for patients and their families.
Sign your clinic up to participate in AmbryShare here.
