Grad school has been a huge time-drain, which is why I rarely get a chance to post anything anymore. Every now and then, a half-hearted attempt, but nothing really comes of it.
Still! Quite a story from the other night. I've been taking a class on genetics and related ethical issues – a strange class, with two policy students, some staff from the university's genetic counseling center, and about 10 med students. It's been a terrific experience, largely because the class delivers on the ethical side, and also because I'm learning a lot about genetics.
Put simply, genetic testing can raise a number of issues, none of them with easy solutions. The first thing that makes genetic information unique is that it typically gives you information about more than just yourself: it gives you information that might have clinical utility for your relatives. In some cases, you relatives may not want to know the information that is conveyed. If your maternal grandmother died of breast cancer at an early age, and if one of your uncles had prostate cancer, you might think it's reasonable to find out if your mom's side of the family carries the BRCA mutation. But say your mom refuses to get tested for it – for whatever reasons (good or lousy – she remembers her own mom's battle with cancer and would prefer not to know, or she's generally afraid of the process, or whatever) – but you want to find out. Well, if you test positive for the mutation, and if there's no cancer on your dad's side, you know that your mom has the mutation. She still doesn't want to know? Fine, you don't have to tell her. But what do you tell her if you opt for a radical bilateral mastectomy as a preventive measure? In a sense, it's impossible for you to make an autonomous decision about your own genetic health without somehow infringing her sovereignty too.
That being said, BRCA testing is fairly simple and fairly straightforward. The mutation is known; once a family is known to be at risk for the mutation, it's easy to do relatively cheap tests on the family to figure out who has the mutation and who doesn't. Once you know your BRCA status, you can decide whether you want to, say, get on with having kids so that you can have your ovaries removed before turning 35 (despite being named for BReast CAncer, BRCA confers a much higher risk of ovarian cancer.) You may opt to go the Christina Applegate route. You may do both, just one, or neither.
Other kinds of testing that are equally deterministic are similarly straightforward. Huntington's…that's the one everyone goes back to. If you have the mutation, by your mid-40s, you will begin to show symptoms of the disease, which is devastating and inexorable, and arguably one of the best arguments for the availability of physician-assisted suicide. Wanting to know if you have the mutation can be empowering or terrifying. Unlike breast cancer, where genetic mutations account for only about 10% of new cases, Huntington's pentrance (the link between the mutation and the disease) is basically 100%.
Finally, there's information that's not deterministic at all. For example, genetic mutations for Alzheimer's disease would tell you that you have a 55% chance of developing Alzheimer's – not much better than a coin toss. (Oddly, there are studies showing that people with some of these mutations are more likely to buy life insurance and long term care insurance, neither of which are protected by the Genetic Information Nondiscrimination Act.)
Anyway, clearly the stuff is interesting, and as a spectator, I was excited to attend a patient panel (cruelly scheduled at the same time the university would be handing out tickets to the president's kinda-meh speech about energy policy yesterday morning.) Except, after hearing a couple of touching stories from cancer survivors and pre-vivors (eg, someone with a BRCA mutation who has never had cancer but has still opted for the bilateral mastectomy), we were treated to the sound of this dramatic, conceited, self-righteous doc with a family history of diffuse gastric cancer prattle on about how the only right decision to make, in the face of a genetic mutation, is to cut whatever it is out. She actually told another panelist struggling with Lynch syndrome, who had already undergone a partial colectomy, to "use it or lose it." In reference to her uterus. The panelist who wanted not to use or lose her uterus was a sweet woman, in her early 30s, who desperately wants a child before undergoing the procedure. She is single, and painfully aware of the menacing ticking clock in her life, but she has chosen to manage her heightened risk by increasing the frequency of her colonoscopies and uterine biopsies. Another panelist, who had delayed her oopherectomy and mastectomy for as long as possible, acknowledged the doc's strident position by quipping, "Well, apparently I'm screwed."
Probably unintentional, but the panel illustrated, vividly, what several studies have shown: that doctors are much more directive (ie, much more likely to approach genetic results with a perception that there is a right and a wrong course of action to be taken as a result of the test) than genetic counselors are. If this were an academic blog, I'd provide you with references, but it's not, so you just have to believe me when I tell you that, when it comes to genetics, doctors get a lot of basic information wrong (eg, whether men in a BRCA family are at increased risk for anything – they can be, if they have the mutation, as can their offspring, etc) and are more likely to try to get you to do something, with little regard for your own ability to make autonomous decisions about risks and trade-offs.
