Genotyping the First 25,000 Biobank Participants

August 14, 2015

The next large project for the Biobank is to genotype 10,000 DNA samples by the end of 2015 and a total of 25,000-50,000 samples over the next 2-3 years. Genotyping is the process of detecting which variants of genes a person has. These data, generated by analyzing the stored DNA of participants in the Biobank, will provide researchers with valuable information to further understand the influence of genes on health. The project will lead to a greater understanding of the pathways of human disease, and allow us to develop better diagnostics and targeted therapeutics for future generations.

The genotyping project will create an enormous amount of useful genetic data. Using this data, BWH and MGH researchers will be able to compare more than 1.6 million gene markers across the entire human genome. Researchers will be able to study genes that have already been associated with disease and examine further markers that are not well understood. Researchers can discover genetic links to diseases more quickly by analyzing this data rather than having to perform the genotyping themselves.

This project shows the tremendous impact patients have and continue to make to the Partners Biobank. When asked about this patient participation, Dr. Scott Weiss, Principal Investigator of the Partners Biobank stated, “I think that at a very high level, most of the Biobank participants are interested in research. They are interested in helping researchers cure diseases, and participating in research that helps solve medical problems and helps other patients.”

This genotyping endeavor will push the boundary of discovery even further while increasing the value of the project to any Partners researcher using these samples. Identifying differences in genetic markers of individuals will expedite the understanding of how disease manifests itself in different people. With the help of every individual who has joined the Biobank, Partners is setting the stage for breakthroughs in the field of personalized medicine.

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