human genome

Science

The dubious consent question at the heart of the Human Genome Project

3:01am July 15, 2024

The Human Genome Project was a massive undertaking that took more than a decade and billions of dollars to complete. For it, scientists collected DNA samples from anonymous volunteers who were told the final project would be a mosaic of DNA. Instead, over two-thirds of the DNA comes from one person: RP11. No one ever told him. Science journalist Ashley Smart talks to host Emily Kwong about his recent investigation into the decision to make RP11 the major donor — and why unearthing this history matters to genetics today.

Read Ashley's full article in Undark Magazine here.

Questions or ideas for future episodes? Email us at shortwave@npr.org.

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Results from a DNA sequencer used in the Human Genome Project.

Health & Safety

'All of Us' research project diversifies the storehouse of genetic knowledge

2:51pm March 07, 2024

by Rob Stein

The National Institutes of Health initiative that aims to make human genome research more inclusive reports its first results. Some 275 million new genetic variations have been identified.

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UK Biobank has granted 10,000 qualified scientists access to its large database of genetic sequences and other medical data, but other organizations with databases have been far more restrictive in giving access.

How Should Scientists' Access To Health Databanks Be Managed?

11:16am September 06, 2019

by Richard Harris

Medical and genetic data from more than a million Americans are now in scientific databases. Some programs hoard the data, while others share widely with scientists, hoping to speed medical discovery.

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Altovise Ewing, who has a doctorate in human genetics and counseling, now works as a genetic counselor and researcher at 23andMe, one of the largest direct-to-consumer genetic testing companies, based in Mountain View, Calif.

Genetic Counselors Of Color Tackle Racial, Ethnic Disparities In Health Care

8:11am July 27, 2019

by Erika Stallings

They work with patients to decide when genetic testing is appropriate, interpret test results and counsel families on the ways hereditary diseases might impact them. A trusting relationship is key.

Overall in medical research, the proportion of participants with non-European ancestry is only about 20 percent, says Columbia University bioethicist Sandra Soo-Jin Lee. And that's a problem.

Mistrust And Lack Of Genetic Diversity Slow Gains In Precision Medicine

11:56am July 25, 2019

by Pien Huang

Scientists hoping to get more diversity of ancestry among medical research volunteers need to grapple with the history of medical exploitation, says a Columbia University bioethicist.

There was an uproar in 2018 when a scientist in China, He Jiankui, announced that he had successfully used CRISPR to edit the genes of twin girls when they were embryos. Prominent scientists hope to stop further attempts at germline editing, at least for

Call For Global Moratorium On Creating Gene-Edited Babies

5:20pm March 13, 2019

by Rob Stein

An international group of 18 prominent scientists and bioethicists is calling for countries around the world to impose a moratorium on the creation of babies whose genes have been altered in the lab.

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Aviv Regev, a core member of the Broad Institute, is leading the international Human Cell Atlas Consortium.

Ambitious 'Human Cell Atlas' Aims To Catalog Every Type Of Cell In The Body

5:00am August 13, 2018

by Karen Weintraub

Already the project has revealed a previously unknown type of cell in the windpipe that might play a role in cystic fibrosis — and lead to a new treatment, scientists say.

Mine Cicek, an assistant professor at the Mayo Clinic, processes samples for the All of Us program.

Researchers Gather Health Data For 'All Of Us'

8:12am December 31, 2017

by Richard Harris

Federal researchers are collecting blood samples from 1 million Americans as part of an effort called "precision medicine." But some critics worry that the path ahead is expensive and unclear.

Whole genome sequencing could become part of routine medical care. Researchers sought to find out how primary care doctors and patients would handle the results.

Routine DNA Sequencing May Be Helpful And Not As Scary As Feared

12:48pm June 27, 2017

by Rob Stein

A study of whole genome sequencing found that while many people discovered genetic variations linked to rare diseases, they didn't overreact to the news.

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Colored scanning electron micrograph of baker's yeast, conventionally grown in the lab. So far, researchers have been able to synthesize six of the yeast's 16 chromosomes from scratch, and think they may be able to complete all 16 by 2018.

Scientists Closer To Creating A Fully Synthetic Yeast Genome

2:03pm March 09, 2017

by Rob Stein

An international consortium of researchers has synthesized about a third of the genetic code of baker's yeast. It's an important milestone in science's quest to create complex "synthetic life."

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