填空题

The Morality Test
A．From cancer to Alzheimer’s (老年痴呆症) to diabetes(糖尿病), advances in genetic science mean that many of us are soon going to know-or at least have the option to know-more about our risks for a wide range of illnesses than we’d ever thought possible. On the surface, that sounds like a good thing, and it is in many respects. But while knowledge may be power, genetic testing also brings with it tremendous physical and psychological collapse.
B．In the past two decades, the number of genetic tests available has jumped from a few hundred to nearly 3,000. Rebecca Nagy, president of the National Society of Genetic Counselors (NSGC, recalls that when she entered the field 15 years ago, it took a year to get the results of a BRCA test. Today, you get them back in a week or two.
C．As the cost of testing declines, says Lawrence Brody, an investigator with the National Institutes of Human Genome Research Institute. medicine is moving toward "multiplex testing for lots of things at once." We’re at the point, he explains, where sequencing a person’s entire exome (外显子组) can be done for somewhere in the neighborhood of ＄i,000. "Whereas before it would have been really bizarre to have someone’s entire genome sequenced because it cost about the same as the GDP of several small countries. With exome sequencing, a patient may go in with questions about his prostate (前列腺) and come out with a report showing increased risks for everything from blood clots (凝块) to kidney disease.
D．Such data points are known as "incidental findings," and they are at the heart of the hottest ethical debate now prevailing in the field, says Nagy. "What results do you disclose to someone and what results do you withhold And do you give patients that choice" One commonly cited example: what happens when a toddler’s exome is sequenced to determine the cause of a developmental delay and the lab discovers that the child has the BRCA1 mutation (变异) Should the lab withhold that information What about the pediatrician
E．Nagy explains that "a basic principle of genetics is that patients should have autonomy"-meaning the right to choose what they do and do not want to know. But in March, the American College of Medical Genetics and Genomics issued a statement contending that, in the case of certain specific harmful and active genes, doctors have an ethical obligation to alert patients to the discovered risks. Balancing this "duty to warn" with an individual’s right to autonomy is tricky enough on its own. But there are other complicating factors to consider. What if disorders are likely to impact other family members And what about all the mutations that will pop up but that we don’t yet understand "The menu is probably more vast in terms of what you can look at than people are prepared for, and the results will contain more uncertainty than people are prepared for.
F．Social worker Katie Berry has a front-row view of all the issues that this new medical landscape is raising. Through Columbia Presbyterian Hospital in New York, Berry counsels men and women at high risk for Huntington’s (亨延顿正), an inherited neurodegenerative disorder (退行性神经紊乱) that typically appears in midlife with some brutal combination of physical, cognitive, and psychiatric decline. A person with the Huntington’s gene can expect to get sick at some point down the road. There is no cure and, unlike with breast cancer, no preventive measures beyond maximizing general health with the aim of delaying onset.
G．Berry works solely with individuals not yet experiencing symptoms. Some have already been gene-tested. Others know that the disease runs in their family and are hesitating about whether to get tested-and when. With no preventive options available for Huntington’s, the question of when to test is often dictated by looming decisions about marriage or parenthood. Most of the patients who come to Berry are in their 30s or early 40s. "People who are in their teens and early 20s tend not to be thinking about these things," she explains. "There’s a level of denial in very young adults."
H．But as people start pairing up and settling down, the stakes of not knowing get higher. (People with the Huntington’s gene have a 50 percent chance of passing it to a child.) "They know there is this sword of Damocles hanging over their heads," says Berry. But until the test is done, they can cling to the hope that they escaped the genetic bullet. "They think, ’It’s possible I’ll never get it. It’s possible I can continue to live the life I’m living now,’ " she says. "Knowing creates a whole other reality-a hugely different reality."
I．Indeed, the news that one’s genome contains a potential time bomb presents numerous, extremely painful psychological hurdles. Breaking the news to family can be a particularly rough part of the process, and not simply because of the heartbreak it brings loved ones. Learning that a family member has a particular mutation can suddenly force brothers and sisters, children and parents to confront unsettling questions about their own genes-questions that many people would prefer not to have raised at all.
J．To facilitate sharing, medical facilities are increasingly providing aid and guidance. Visvanathan’s clinic invites patients to have family come in and talk with the staff. "We try to take some of that burden," she explains. Hospitals at places like Georgetown University and the University of Pennsylvania often provide patients with letter templates tailored specifically toward informing family.
K．Then there’s the long-term challenge of living with a genetic ghost hiding in the background. At times, the anxiety can cause great damage, says Berry. "People talk frequently about bow they go through periods-and I suspect it’s true of anyone who faces a chronic illness or potentially fatal disease-periods that last days, weeks, months, or even years when there’s a hyper-alertness about the body." Every twitch, twinge, or tickle spurs a raw terror that the illness has begun to take hold. "People say they’re convinced they have the disease even though there’s nothing obviously symptomatic about them," Berry says.
L．For the medical community, addressing these challenges will mean changing medical-school curricula and investing in continuing education. "It means us going out to physicians’ offices and helping them understand when it’s appropriate to refer a person to a genetic counselor," Nagy says. "It’s making them feel comfortable that, once referred, their patients will come back to them for ongoing care."
M．Much more broadly, the general public is increasingly going to need a grasp of genetic basics to better manage their health, says Visvanathan. "Maybe the genetic aspects of health need to be brought into schools," she says. "Informing people at a young age would be helpful." Where and when this education should take place is, in fact, already under discussion. "I was at a conference last year in Boston where people were talking about how to educate elementary schoolkids," Nagy recalls.
N．Equally important, there will be a need for more organizations to do the simple work of linking those facing similarly cloudy futures to one another. Having a support network of others who understand the fears, thoughts, medical peculiarities, and even the language of your disorder makes a huge difference, says Berry. "You see a positive effect when people realize that they are not journeying alone." In some cases, just having a regular chance to vent provides a measure of relief. "We have heard from patients that they love the support group because it allows them to gather all that negative energy, worry, and anxiety and spew it out in a oneor two-hour period," she says. "Then the rest of the month they don’t have to think about it so much." But the anxiety never fades entirely, says Berry. "It’s always present, always niggling."
O．Such is the burden of knowledge-and, more specifically, foreknowledge. It is a burden more and more of us are going to have to decide whether to assume and one that our medical system is just beginning to learn how to help us shoulder. "This really is a slightly different pattern for medicine," says Brody. "It’s going to take a lot of work.\
The American College of Medical Genetics and Genomics suggests informing patients with certain gene problems of potential and possible risks of a certain disease.