Last week, in Embrace Your Dangerous Genome, I argued (following Virginia Hughes’ Slate article) that we should press for more openness and less worry about people receiving their genomic information. In my focus on making that point I failed to note that I was speaking mainly about people who want to unearth their genomic information via so-called personal genomics outfits like 23andme — and not about people who find themselves confronting bad genetics news in medical situations in which genetic testing became part of diagnostic efforts. I should have made that distinction, for it’s important one: There’s a difference between facing bad news when you’ve asked for it and facing it because you got sick — especially if the news is especially grave.
The post stirred some objections from people who are painfully familiar with that latter scenario, such as genetic counselors in medical settings, who sometimes find they must tell someone that they have, for instance, the gene variant that dooms one to Huntington’s disease — among the grimmest of findings.
One such counselor is Laura Hercher, of the Joan H. Marks Human Genetics Program at Sarah Lawrence College, who kindly agreed to make the case here for a sort of selective paternalism in medical genetic counseling. My sincere thanks to her for providing this perspective.
The Case for Paternalism in Genetic Testing
by Laura Hercher
“So,” the journalist interviewing me asked, “you are for paternalism, then?”
Pause. I feel the linguistic walls closing in on me. Are you for paternalism? Are you against life? When did you stop beating your wife?
The case against paternalism in genetics is a cause célèbre among many scientists and science writers. The argument generally paints a picture of the medical professional as some sort of hybrid nanny-thug, protecting consenting adults from viewing their own genomes as though they were small children begging to play with knives, and at the same time fighting a bare-knuckle brawl with DTC companies to defend their turf as the only legitimate explicators of medical significance (because fortunes ride on the right to explain complex inheritance patterns and probability to the worried well. Please.).
The genome is not such a scary place and we have a right to our own genetic information. This case is made by many, including Virginia Hughes at Slate and Razib Khan at Discover and Daniel MacArthur at Wired. These arguments are smart, well-written, ethically unassailable to a point – but at the same time contextualized to a very distinct set of circumstances, which can be frustrating to genetic counselors who work in settings where the scientifically literate, information-seeking consumer with time on his hands and an interest in genomics is not – safe to say – the average patient.
All of these critiques are set in the world of 23andMe, which is a perfectly good world, but one where in my imagination the sky is orange and the sun is blue. It’s not a real place. For one thing, in 23andMe-world there is no necessity of making a profit (They don’t. Do the math). I think it is wonderful that they sprung for scans for Parkinson’s patients and full sequencing for 50 people with PD-associated LRRK2 mutation. It’s lovely. It’s just not a business model. It’s not a medical model.
And the customer base has a similarly unreal quality for those of us in traditional patient-care settings. Who are these people, who read in-depth explanations of residual risk, and fill out surveys detailing their health and family history? As a genetic counselor, my experience is with people who come for assessment or testing because they were concerned about something specific – or more likely, because some doctor told them they should – and not out of intellectual curiosity. On a good day, our patients know their family history. And most of them are simply hoping that if you find something wrong they can just take a pill and don’t need to see another doctor, because they had a hell of time getting off work for this appointment and enough is enough. So, if it’s no emergency – yeah, we’re done.
Which brings me back to this issue of paternalism. I agree that it makes no sense to put up obstacles for inquisitive and motivated individuals who wish to query their genome for information, however laced with uncertainty or peril. But forgive us if our first thoughts are often about how to help (yes, and to protect) the patients we see, in the medical setting. Science literacy is rare. The desire to use web-based tools to analyze their own DNA sequence is vanishingly rare. And a sentence like “Your risk of type II diabetes is decreased by the allele that you carry, in a gene that accounts for an estimated 1.5% of the heritability of the disease” is regularly interpreted as “You will not get type II diabetes.” So we worry about the effect that getting this information may have on the people who live where the sky is blue and the sun is yellow. Sue us.
(And by the way, they will sue us too – another difference between the real world and genetics as a social media project.)
Regulation of genetic testing, beyond standards for laboratory competence, is an idea on the wrong side of history. I get that. How can you tell people they can’t access information that is carried in their own cells? But I come to this conclusion with some reluctance and concern. I know that for most people it will work out fine. I know that the REVEAL study that looked at the impact of giving out sometimes devastating information about genetic susceptibility to Alzheimer’s disease and other early work suggest that people can handle this information. Of course, early work is done, by necessity, on the early adopters who are first to seek out genetic testing … but not to quibble.
Still, I cannot participate in the full-throated enthusiasm. David Dobbs, making the case that we should set our worries about news being “more than many people can handle” aside, wrote here, “A very few people, meanwhile, may learn they carry the gene that makes it absolutely certain that, should you live to your 30s or 40s (possibly sooner), you’ll develop Huntington’s disease, which is highly unpleasant and invariably fatal.” Highly unpleasant? Huntington’s disease is a degenerative condition that show up as a rule between 30 and 45, a slow descent that begins with a few tics and grimace and progresses to the loss of self on every level – cognitive, behavioral, physical. Eventually, patients are overwhelmed by involuntary movement – paralyzed by movement rather than stillness – until finally the movements wane, and a rigor sets in and a mute, rigid wait for the end. The whole span of the thing might be 15 years. Yes, unpleasant.
I worked on a project years ago that involved interviewing people at risk for HD, many of whom knew their genetic status. People who have the gene for Alzheimer’s disease are lucky, said one, because they can just put some pills away with a note that says ‘if you can’t remember what these are for, take the whole bottle.’ When you give out results to HD testing, you don’t usually have to tell them too much about the disease. After all, this is a family condition – they generally know. They know how it feels to be embarrassed by a twitching parent. They know what the end stage looks like. And so imagine sitting across from that person – 20 or 25 years old, or maybe 35 and hoping for the all-clear to have a family –or 40 and feeling like maybe they’ve gotten lucky – and having to tell them, “I’m so sorry…” It sticks with you.
So, two things about Huntington’s disease. One, thankfully, is that while it has often been proposed as a model for the risks of pre-symptomatic testing, it turns out that very few things are like HD. What makes it different from almost everything else is that the test is so definitive. If you have the gene, and you don’t get hit by a bus, you will get the disease. This lack of hope is the thing that makes it all so intolerable – and also what brings me to my second point: there has been some good news lately about potential treatments. For a neurodegenerative condition like HD, treatment is most effective before signs of disease appear – which will entirely change the calculus on testing.
So, yes – more information, not less, is the way of the future, for so many reasons. But I will throw in a plea for understanding that sometimes the opposition is not merely protecting an information fiefdom, but responding to their own previous experience. Sometimes, I get a little protective. I guess that’s paternalism. I plead guilty – guilty, with an explanation.
Laura Hercher is a genetic counselor, and a faculty member at the Joan H. Marks Human Genetics Program at Sarah Lawrence College, focusing on the social, legal and ethical impact of genetic testing and technology. She recently completed three years as chair of the National Society of Genetic Counselors Ethics Advisory Group. Her works include original research, commentary, and the occasional foray into journalism; she blogs at TheDNAExchange.com, and her first novel, Anybody’s Miracle, is due out in May. She’s on Twitter at @laurahercher.