Wednesday, November 07, 2018

Validation of simultaneous preimplantation genetic testing (PGT) for aneuploidy, monogenic, and polygenic disorders (Dr. Nathan Treff, Genomic Prediction, Inc.)

Dr. Nathan Treff, co-founder of Genomic Prediction, at the 2018 American Society of Reproductive Medicine meeting. His talk introduces Expanded Pre-Implantation Genomic Testing (EPⓖT):
EPⓖT allows the routine, inexpensive evaluation of hundreds of thousands of genetic variants, implementing a novel combination of embryo genotyping methods not previously combined into a reproductive genetics application.

Universal coverage of common single-gene disorders, such as Cystic Fibrosis, Thalassemia, BRCA, Sickle Cell Anemia, and Gaucher Disease.

Complex disorders whose risk can be predicted include:
Type 1 Diabetes, Type 2 Diabetes, Coronary Artery Disease, Atrial Fibrillation, Breast Cancer, Hypothyroidism, Mental Disability, Idiopathic Short Stature, Inflammatory Bowel Disease
At the American Society of Human Genetics (ASHG) meeting last month in San Diego, several people recognized me and came over to marvel at Genomic Prediction.
"Look at all these people walking around, with no idea what is happening right now...  You guys are Creating the Future!"

From Comments:
John C. • 11 hours ago
What could be the use of predicting atrial fibrillation, coronary artery disease and Type 2 diabetes risk be? Tell people to not gain weight as they age?

Bobdisqus • 3 hours ago
Well as someone who had an ablation for AFIB, two stents in my RCA, and a family history that includes a brother with first heart attack at 38, and my father at 43 I would say the value is immense. Beyond that the extended family on both sides is rife with such. The number of men in my ancestry that made it past 70 is tiny. My children now have the option with a couple of rounds of egg harvesting which is well advised for my brood of daughters anyway given the human fertility curve and their plans for education to filter the worst of this scourge from our line going forward. Their sons can then anticipate fine old ages into their 90s much like the people of their Mother's line.

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