Special Issue: Human genome at 20

February 04, 2021

In February 2001, the first drafts of the human genome were published. In this Special Issue of Science, "Human Genome at 20," an Editorial, a Policy Forum, a series of NextGen Voices Letters and a Perspective explore the complicated legacy of the Human Genome Project (HGP). "Millions of people today have access to their personal genomic information, with direct-to-consumer services and integration with other 'big-data' increasingly commoditizing what was rightly celebrated as a singular achievement in February 2001," writes Science Senior Editor Brad Wible.

An Editorial by Claire Frasier, director of the Institute for Genome Sciences at the University of Maryland School of Medicine, provides her reflections on how far genomic science has come since the HGP was first launched. A series of NextGen Voices Letters provides stories from young scientists who've had their own genomes sequenced using consumer DNA ancestry tests. They reflect on how they understand their genetic history in the context of their family traditions, cultures and lived experiences. In a Policy Forum, a collection of experts weighs in on fruits of the HGP, as well as missteps and growing pains resulting from related endeavors that point to challenges that remain. These will require scientists to focus on rapid and open sharing of genetic data; increase diversity in genome science; encourage more Indigenous Peoples to participate in genomics research; address bias in the algorithms that analyze genomic data, and develop a multidisciplinary approach for developing and implementing polygenic risk scores for diverse communities. Finally, in a Perspective, Namandjé Bumpus argues that the lack of diversity in clinical trials hinders the ability to fully understand variation and predict drug outcomes across populations, including those at most risk for a disease. For many decades, most clinical trials in the U.S. have been carried out primarily on individuals of European descent - a trend that largely continues today. However, if the key goal of clinical testing is to ensure a drug's safety for everyone, genetic variation across populations must be accounted for. "Recognizing and acting on the need to diversify clinical trials is an important way to ensure that treatments are most likely to work for all people and that existing health disparities and the costs they bring are not further exacerbated," writes Bumpus.

American Association for the Advancement of Science

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