After watching the interview with George Church on personal genomics, I was intrigued by his Personal Genome Project (PGP). Prior to this interview, I had not heard of this project before and am fascinated by this resource available to scientists that allow them to find connections between genetic information and trait information. Professor Church has clearly created a very valuable global network and database for genetic investigation.
Furthermore, I chose this interview because it related to my final project topic on assessing the accuracy of direct-to-consumer genetic testing like 23andMe on predicting breast cancer risk, specifically with the BRCA1 and BRCA2 genes. Professor Church explains some of the benefits of sequencing large sections or the whole genome, using John Lauerman as an example. Lauerman was unable to find an explanation for his leg pain and scotomas with individual tests for specific genes coming back negative, however, after participating in PGP, it was found that he has a JAK2 mutation in his blood. He is now able to treat his symptoms with daily Aspirin.
Professor Church also addresses breast cancer predictions directly, explaining that a company has been conducting these predictions since 1991. When mentioning Angelina Jolie and her preventative surgery towards breast cancer, Professor Church introduces the idea that predictions for the development of diseases or cancers rely on data from those who develop cancer but also those who do not and remain healthy. Although this background data on those who never develop cancer is essential in making these predictions and determining uncertainty, we often lack adequate amounts. Professor Church aims to remedy this issue with PGP by collecting and sharing large amounts of both genetic data and qualitative data related to environmental factors, lifestyle choices, and medical records of the participant.
Additional Links
Watch the Interview with George Church on Personal Genomics: https://www.labxchange.org/library/pathway/lx-pathway:0b417a9e-6227-44a8-a887-dbfdf44e37e3/items/lb:HarvardX:9fa146f4:lx_simulation:1/62345?source=%2Flibrary%2Fclusters%2Flx-cluster%3AModernPrediction
Learn more about the Personal Genome Project at Harvard: https://pgp.med.harvard.edu/