Gene Genie #42 - focus on personalised genetics

Welcome to the 42nd edition of Gene Genie, the blog carnival of clinical genetics and personalised medicine.

Most of the entries in this edition fall under the broad umbrella of personalised genetics, with posts emphasising both the pros and cons of the emerging consumer genetic testing industry.

The promise and perils of personalised genetics

Hsien-Hsien Li from Eye on DNA warned about the potential dangers of pressuring kids to compete in athletic events based on genetic testing results, citing the suicide of a 15-year-old Singaporean boy. Alberto from Medical Pills used Hsien's post as a starting point to explore the ethical challenges associated with genetic testing in children.

Steve Murphy, the Gene Sherpa, took issue with the terminology - arguing that "personalised medicine" should really be called "patient-centered genomic healthcare". Meanwhile, Berci Mesko trialled a new web service called AccessDNA, which offers a list of targeted genetic screens based on your family history and environmental risk factors. The question Berci left with is, "What can I do with that information?"

That question was also the focus of a NY Times article by Steven Pinker, which caused a tremendous stir in the human genetics blogosphere. Randall Parker from FuturePundit argued from Pinker's article that "we are going to find lots of ways to use genetic information and [the field] will fragment into different industries". Among other thoughtful and well-written responses were posts from John Hawks (who was enthusiastic about the photographs of Pinker's bare legs), Razib from Gene Expression and Michael White from Adaptive Complexity. I also used Pinker's article to argue that the confusion arising from personal genomics can help to drive home the sheer complexity and subtlety of genetics to consumers, an effective antidote to "the gene for x" articles in the mainstream media.

Of course, personalised genetics isn't much use without research into the genetic variants that affect predisposition to disease. On that note, Philippa Brice at the PHG Foundation reported on a recent study identifying genetic markers for late-onset Alzheimer's disease, while Randall Parker discussed the discovery of six new genetic markers for obesity,

Predictions for 2009

As is traditional at this time of year, several commentators chimed in with their predictions regarding the field of personalised medicine in 2009.

Hsien-Hsien Li had a list of "Outrageous DNA Predictions", including the revelation of mutant superpowers from the Personal Genome Project's first 10 superstar participants. Berci Mesko responded with his thoughts, and boldly predicted that personal genomics provider Navigenics will "rule the market" (an outcome that would shock many of us).

Steve Murphy had his own predictions, including the first pharmacogenetics-related lawsuit and a winner for the Archon X Prize for rapid, cheap genome sequencing.

Writing up this carnival also inspired me to finally put my own absurdly lengthy list of predictions for 2009 out there in the blogosphere.

Using DNA to explore the past

Blaine Bettinger of The Genetic Genealogist presented charts indicating the approximate proportions of an individual's X chromosome that can be traced back to specific ancestors. To be specific: "if you are a male, your mother's father's mother's father's mother's
father's mother contributed 1/8th of your X-chromosome, while your
mother's mother's mother's mother's mother's mother's parents only
contributed 1/64th"!

Personal genomics company 23andMe's corporate blog, The Spittoon, reported on a very different way to use DNA to peer into the past: the use of mitochondrial DNA to investigate the origins of medieval cow-skin manuscripts. This analysis revealed, for instance, that "each manuscript was made of hide from the same animal (or at the very least, very closely related individuals)" - and similar approaches may be useful for tracing the trade routes that parchments followed through medieval Europe.

Other forays in genetics

Aequinimitas expanded on Berci Mesko's provisional diagnosis of Fragile X Syndrome for two boys pictured in a 1994 photograph from Roger Ballen (pictured on the left), and concluded that while Fragile X seems a likely candidate, "there may be more than a single genetic defect at play".

Mary from OpenHelix announced the release of a European mirror site for the UCSC Genome Browser, a popular graphical interface for accessing genomic information.

Ricardo Vidal from My Biotech Life reported on the establishment of the Portuguese DNA database for convicted criminals, which follows similar moves by other European nations such as Spain and Greece.

Finally, Grace Ibay from Genetics and Health wanted to know: is former director of the National Human Genome Research Institute, Francis Collins, a "shoo-in" for the post of head of the National Institute of Health? Collins' response to the speculation thus far is "No comment."

That's it for the 42nd edition of Gene Genie. Thanks to Ricardo Vidal for the Gene Genie logo, and to Berci Mesko for gracefully coordinating the event behind the scenes.

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