Do it yourself genetic diagnosis

Photo: Ye Rin Mok

Of course there are exceptions and this story of a father personally sifting through his daughter's genetic code looking for answers to her rare genetic disorder fascinates me.  Beatrice Rienhoff's condition has been reviewed by some of the top experts in the country and no one could give her parents answers. 

So her father took matters into his own hands.  Hugh Rienhoff has had his daughter Beatrice's DNA extracted, he amplified it, sent it out for sequencing and is now looking at the sequence base by base looking for genetic abnormalities.  Being that DNA sequencing is my area of expertise, I cannot even begin to relate what a monumental task this is.  The wet lab work alone would have sent most packing. (I cannot believe he got his hands on the reagents.)

I want to encourage Hugh in his effort.  I believe it to be a beautiful expression of a father's love for his daughter.  So what makes this case different?  Hugh Rienhoff is no ordinary Joe:

Family life came late for Rienhoff, after decades devoted to science. He earned an MD from Johns Hopkins University, where his mentor was Victor McKusick, arguably the greatest medical geneticist of the 20th century. After residency, Rienhoff took a post as a genetics researcher at the Fred Hutchinson Cancer Research Center in Seattle before entering the business realm. He spent most of the 1990s as a partner at New Enterprise Associates, a venture capital firm, then founded DNA Sciences, a Silicon Valley company that developed genetic screening tools. He left DNA Sciences in 2001, two years before the company filed for Chapter 11 and was sold off; today he advises biotech startups on drug-development strategies.

Currently genetics has no answer for Beatrice, so Dr. Rienhoff has gone looking for them himself.  Kudos to him.  He may never find them.  But he clearly loves Beatrice in spite of her unknown "genetic defect":

Not everyone thinks Rienhoff's quest is worthwhile. Some geneticists believe that desperation is leading him to a dead end. Rienhoff understands this view, and at times even suspects that his doubters—some of whom are good friends—may be right. But even if his odds of success are minuscule, he argues, there is nothing to be gained by standing on the sidelines. In his view, parents must be their children's greatest advocates, the people whose love keeps them pushing for answers when the medical establishment has essentially surrendered. And to Rienhoff, being the father who never relents is itself a noble goal. "In the end," he says, "this is simply about the extra ways a daddy can love his little girl."