Tag: molecular biology

Bioethics Blogs

Data Yearning to Become Expensive Information

Several initiatives have surfaced recently that hope to move genomics more effectively toward medical applications. They are trying to link genomic and phenotypic data, establish baselines for health, and use computational techniques to move the science forward. Some seem more promising than others; even discounting for self-promotion, Craig Venter may be leading the pack.

The highest-profile and clearly most political announcement was made in the UK by Prime Minister David Cameron on August 1. It firms up the proposals for Genomics England, which plans to sequence 100,000 genomes — 40,000 from patients suffering from cancer and other rare diseases; 35,000 from their relatives; and 25,000 from the cancer cells themselves. 

The broad outlines of this are not new, and were cogently critiqued by Helen Wallace of GeneWatch UK a couple of months ago, on grounds of effectiveness (dubious) and privacy (very worrying, and addressed even by The Observer). Commercial exploitation is also a concern. The project is a partnership between the government, the Wellcome Trust, and Illumina, which will perform the sequencing. Cameron is pushing it hard:

This agreement will see the UK lead the world in genetic research within years. As our plan becomes a reality, I believe we will be able to transform how devastating diseases are diagnosed and treated in the NHS and across the world.

In the US, there has been a more surprising, though much smaller-scale, development: The embattled direct-to-consumer testing company 23andMe has scored a $1.4 million grant from the National Institutes of Health. It’s pin money to the Googleplex, of course, but some kind of validation.

The views, opinions and positions expressed by these authors and blogs are theirs and do not necessarily represent that of the Bioethics Research Library and Kennedy Institute of Ethics or Georgetown University.

Bioethics Blogs

Creative Minds: Interpreting Your Genome

Artist's rendering of a doctor with a patient and a strand of DNA

Credit: Jane Ades, National Human Genome Research Institute, NIH

Just this year, we’ve reached the point where we can sequence an entire human genome for less than $1,000. That’s great news—and rather astounding, since the first human genome sequence (finished in 2003) cost an estimated $400,000,000!  Does that mean we’ll be able to use each person’s unique genetic blueprint to guide his or her health care from cradle to grave?  Maybe eventually, but it’s not quite as simple as it sounds.

Before we can use your genome to develop more personalized strategies for detecting, treating, and preventing disease, we need to be able to interpret the many variations that make your genome distinct from everybody else’s. While most of these variations are neither bad nor good, some raise the risk of particular diseases, and others serve to lower the risk. How do we figure out which is which?

Jay Shendure, an associate professor at the University of Washington in Seattle, has an audacious plan to figure this out, which is why he is among the 2013 recipients of the NIH Director’s Pioneer Award.

A man smiling

Jay Ashok Shendure, M.D., Ph.D.

Shendure is already a pioneer when it comes to genomics. He helped to develop a faster, cheaper method of sequencing the genome that involves analyzing billions of DNA molecules simultaneously [1]. He led a team that figured out how to decode the exome—the 1% of the genome that encodes all the proteins—to identify genes causing rare, inherited disorders [2]. And, most recently, Shendure’s group showed that it’s possible to sequence the entire genome of a fetus from DNA harvested from the mother’s blood during pregnancy [3].

The views, opinions and positions expressed by these authors and blogs are theirs and do not necessarily represent that of the Bioethics Research Library and Kennedy Institute of Ethics or Georgetown University.