Gary Wolf

November 23, 2007

The New York Times published several letters today about Amy Harmon’s story of having her DNA sequenced by 23andme. One of them was by Hugh Young Rienhoff, Jr., whose blog, MyDaughtersDNA.org*, is an example of exactly the mix of altruism, curiosity, and desire for medical progress that should power this movement in the first stages.

Rienhoff, whose quest was the subject of a detailed, well-written story in Nature has been trying to understand the cause of a rare condition that interferes with normal muscular development. His daughter suffers from this syndrome, which appears to have a genetic cause. It is rare, and may even be new.

Rienhoff had an advantage in his research – he is a doctor and a geneticist. The Nature story has the full account of how Rienhoff set about to sequence a portion of his daughters genome, and gain any relevant knowledge of how she can be helped.

Rienhoff’s site does more than document his effort. It offers a template and repository for individual case reports, and ultimately for genetic information as well. It is an early, small, but important pointer toward realizing the potential of personal genomics.

With help from George Church, a Harvard Medical School professor with an extensive track record in new technologies for sequencing and synthesizing DNA, Rienhoff developed a sort of ‘phenotype spreadsheet’ on which to record his daughter’s clinical history. The idea is that such data representations might someday allow a computer to search through his daughter’s symptoms along with those of others with unidentified genetic disorders looking for clinical commonalities.

Church plays down his contribution as just a seed of an idea that he thought worth testing, but says he is intrigued by Rienhoff’s gumption: “I’m interested in cases of altruists who, rather than hiding from genetics, are using the opportunity to be sort of social activists, working to raise consciousness and maybe raise money for diseases affecting their family and friends.”

Such activism is not new. Parents quite frequently become advocates for research on behalf of their children — when they are rich, famous, persistent, lucky or very well placed, they can make a difference. But with a sequencer and a website, Rienhoff has stepped over the threshold of personal genomics in a way set to catch the imagination.

As sequencing gets ever easier and knowledge bases ever larger, it may not be fanciful to imagine more and more people following him, developing theories about abnormalities and testing them through sequencing. Such attempts will often fail, and in some cases lead to frustration and heartache. But some may make significant contributions to our understanding of the function of various human genes.
And here is an excerpt from a longer post* by Dr. Rienhoff in which he gives very clear description of why he has made the details of his daughter’s case public:

The reasons for making public a mysterious case.

Why am I making public my daughter’s medical findings and her history?

I am in search of a diagnosis. It may be that my daughter has a new condition, it may be that she has a very rare condition that only a very few people know of and I have not met them, or perhaps she has an unusual form of a more common genetic condition. She is a mystery at present. If I broadcast her findings to other — doctors, patients and parents who may have seen a similar condition — I am more likely to pin down precisely what she has.

Why does a diagnosis matter?

A definitive diagnosis is very valuable because along with the right diagnosis comes some expectation of what will become, what to expect. Do problems disappear; do they get better? Are there some aspects of the condition that require special vigilance? A diagnosis can also bring along a treatment. In short, if I know what it is, I know what to expect and I know how to treat. Without that diagnosis, we are all in the dark.

Finally, here is Dr. Rienhoff’s letter to the Times, in which he raises the possibility that personal genomics, if neglected by the medical establishment, could end up being dominated by vanity procedures.

To the Editor:

The real news is that the genetic genie is out of the bottle. The consumer’s embrace of genetic analysis is now unstoppable. And though the medical community warns how little we can actually learn from most of our genes, these caveats do not diminish our curiosity.

The truth is that the medical establishment has not co-opted the genetic paradigm because doctors are busy and see little value right now for themselves or their patients. As such, genetics may go the way of cosmetic dermatology and surgery.

 Hugh Young Rienhoff Jr., M.D.
San Francisco, Nov. 18, 2007

*original site is no longer available, archived content provided by Wayback Machine