In my book, I wrote:
For decades, medical genetics has been criticized as a field akin to bird-watching, whose credo is “diagnose and adios.”
That’s still true…and even the “diagnose” part is too often elusive.
But change is afoot. Numerous teams of clinicians and genomicists (including two at my own institution) have come together to sequence patients’ genomes and/or exomes to identify disease-causing mutations.
Of course, doctors and researchers and genetic counselors are still bickering about when to sequence, whom to sequence, return of results, institutional liability, whether we are confusing research with patient care, and on and on. But for the moment, what everyone can agree on is that parents of kids with serious undiagnosed conditions likely to be genetic absolutely do not give a shit about any of those things.
They want help. They want answers. For two decades we have painted grandiose pictures of personalized medicine. Are we going to keep moving the goalposts? Are we going to tell them that we didn’t mean it?
The good news is that the up-and-coming generation of whole-genome sequencing “natives,” who are less worried about HIPAA violations than by the prospect having to look heartbroken parents in the eye and shrug and mumble apologies, have begun to organize. Among them are the folks at The Rare Genomics Institute, a nonprofit that raises money for whole-genome sequencing for children with rare or orphan genetic diseases.
One of the reasons I wrote my book was that I thought it was time to move beyond thinking about genetics and genomics as abstractions: a bunch of pea plants 150 years ago, a smear on a gel, a string of letters on a screen, a series of grant applications making vague promises about helping someone with something…someday.
Goddammit, today is the day. Robert, Maya and Gram are not birds in a field guide or case studies in a dysmorphology textbook or entries in a dataset.
They are someone’s kids. They could be yours.
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