The Human Genome Project was a 13-year, $3 billion dollar venture in federal funding back in 2001. Compare that to today’s cost of sequencing which takes a couple of weeks and costs around $1000. Why have costs reduced 20-million-fold in the span of about 20 years?
This was the focus of the plenary Monday morning given by Dr. George Church, Professor of Genetics at Harvard Medical School and Director of the Lipper Center for Computational Genetics, who has been involved in this research since developing the first methods for genome sequencing to advancing technologies used in massively parallel sequencing. His plenary session, “Multiplexed and Exponentially Improving Technologies,” provided an overview of his amazing accomplishments and future endeavors in fostering this field.
Church has always been a researcher who thinks outside the box. He initiated the ideas and participated in the Human Genome Project in 1984, and since then, he has been optimizing processes for collecting, analyzing, and utilizing genetic information.
One of Church’s contributions that exponentially improved sequencing and decreased cost was using molecular tags to keep track of large amounts of data. “Multiplexing is not parallelization,” Church said. “It uses barcoded mixtures of samples, tens to billions in place of single samples. It is the core principle underlying next-generation sequencing, multiplex editing, and multiplex cell testing.” New technologies routinely barcode, or spatially encode diverse samples, and then read and interpret the codes accurately.
“Reading and writing the genetic code has exponentially improved 10-fold per year, which is revolutionizing medicine,” said Church.
An early advocate of personalized medicine, Church initiated the Personal Genome Project in 2005. This project is a long-term cohort study in which people share their sequencing results, traits, and medical records to the public for free. The goal is to make the data freely available to advance personalized medicine, which means that providers can use information encoded in a person’s genes to customize medical care. Not only is Church a founder, but he is also a contributing member of the project. The Personal Genome Project is now an international effort, spanning the US, Canada, United Kingdom, Austria, and China.
Church also described the use of machine learning tools to help analyze “the unprecedented number of changes using multiplexing technologies in proteins, DNA, and RNA.” By combining machine learning with multiplexing, Church is focused on exploring the range of possibilities that the virus, cells, or tissues can develop using synthetic biology techniques.
Another field that is significantly impacting medicine is multiplex editing, which can create engineered organs for transplantation, cell therapies like anti-cancer CAR-T cells, and cells resistant to viruses. The Church laboratory is at the forefront of exploring these ideas and building the much-needed tools that the medical community needs to treat patients in need of cancer therapies, organ transplants, and gene therapies.
One recent example: CRISPR technology developed in the Church laboratory was used to for xenotransplantation of a pig’s heart into a human, which is also featured in a talk at this year’s meeting. “Multiplexing is ushering us into an age of exponential improvements not just in DNA, but almost anything that DNA touches—diagnostics, therapies, vaccines, agriculture, environment, manufacturing, and more,” said Church.
Thanks to highly creative and scientifically driven people like Church, the medical community is making giant leaps in providing better care for patients using these newly developed DNA-driven technologies.