Scientists reconstruct first complete genome of a living person

Scientists have reconstructed the complete genome of a living person for the first time, capturing full sets of chromosomes from each parent in a achievement that researchers say will make personalized genomics routine in medical care. The advance, published Thursday in Cell as part of a 12-paper package, arrives alongside a separate push by Human Longevity to bring clinical-grade whole genome sequencing to consumers for $599.

A Harder Puzzle, Solved

The work, led by the Telomere-to-Telomere Consortium with researchers from Johns Hopkins University, the National Human Genome Research Institute, and the National Institute of Standards and Technology, builds on the consortium's 2022 completion of the first gapless human genome sequence. That earlier effort filled in the final 8% of a single genome, but the new study goes further by reconstructing a "diploid" genome — containing two copies of every chromosome, one from each parent.hub.jhu+1

"The first T2T project was like assembling a huge jigsaw puzzle. This time, we had pieces from two similar puzzles, one from mom and one from dad, all thrown into the same box," said Adam Phillippy, a Johns Hopkins research professor and senior author of the study.hub.jhu

The team sequenced the HG002 genome, a sample from a living donor widely used as a reference material by the DNA sequencing industry. The result reveals 15% more of the genome than previous benchmarks, adding more than 900 million DNA letters, including both sex chromosomes and regions linked to cancer and neurological disorders. The work achieved near-perfect accuracy across 99.4% of the diploid genome.biorxiv+2

From Billions to Thousands

The total cost of the Human Genome Project, completed in 2003, was about $5 billion in today's dollars. A more complete and accurate result can now be produced for roughly $5,000 — a million-fold reduction, Phillippy said. The consortium expects the advance to improve diagnosis of rare genetic diseases, particularly in children, where current lower-accuracy methods fail to identify a genetic cause in over half of cases.hub.jhu

"Complete, personalized genomes are now possible for anyone," Phillippy said.hub.jhu

Consumer Genomics Pushes Lower

Separately, Human Longevity announced its Genomics for All service, offering clinical-grade whole genome sequencing at $599 — positioning the test closer to consumer DNA kits than the premium longevity programs the company previously offered. The service sequences all 6.4 billion base pairs at 30x clinical-grade depth and delivers AI-interpreted results through an app, with annual re-analysis as scientific understanding evolves.longevity+1

"With Genomics for All, we are continuing that vision by helping more people understand what their genome may mean for their long-term health," said Dr. Wei-Wu He, Human Longevity's chairman and CEO.longevity