Sunday, January 31, 2010
Standardized Tests
Within my social circle, it appeared that institutions assigned a greater value to the apparent innate potential indicated by standardized test scores than to the behaviors indicated by grade point average. This was especially evident in the scholarships offered by our primary state school based on a particular test's score. While my GPA was far below a 4.0, I was offered a full ride based on my standardized test score. On the other hand, a friend of mine, who took much more difficult classes, maintained a 4.0, but missed the cutoff for the standardized test by 1 point, was offered almost no scholarship. Although he certainly had what would be considered "high" test scores, he was denied admission to a more selective institution into which a friend of mine, with a lower GPA, higher test scores, and a comparable extracurricular resume, was admitted.
I would argue that this indicates a general belief held in the world of higher education that preference ought to be given to innately "smarter" individuals, with smart being defined as an ability to understand and perform well on quantitative and qualitative reasoning questions within a short period of time. These tests, however, are hardly representative of what students will be asked to do in their courses in universities, and indeed in the real world. My friend who missed out on a full ride and admission to a prestigious university has done exceptionally well in all his classes and will be earning $80,000 next year. I still struggle with forming effective study habits and my other friend, the one admitted to the selective university, was kicked out after his freshman year and has dropped out of school all together. While this is obviously anecdotal, it is certainly the case that standardized test scores do not correlate with performance, and my high performing friend would have been a much better investment for the university's full tuition scholarship than I would have been.
Once again, while universities don't see the tests themselves as infallible, they do see them as indicative of the more important determinant: innate potential, rather than demonstrated performance.
I don't think that Pinker believes that all behavior is entirely determined by genes. He may believe that certain capacities and abilities are limited by inherited materials, but I do not believe he conflates this with behavior itself. Nor do I believe that he and Lewontin are completely opposed in their beliefs about the nature of individuals and behavior. I would like to suggest that if we are to argue about what determines behavior and traits, we need to propose a more specific definition of these categories than wearing the same clothes as a long lost twin, killing someone, or wanting to cut off your arm.
Catholic School Girl No More
"I don't want to be a product of my environment, i want my environment to be a product of me..."
There were several elements that factored into my ultimate choice to attend the University of Minnesota, but by far the most prominent was my desire to "pop my rochester bubble." For those of you who don't know, Rochester is a Minnesota city of about 100,000 nested in the south eastern part of the state, and home of the worldly revered Mayo Clinic. While absolutely delightful to grow up in Rochester it was and remains a conservative Midwestern town filled with immense brainpower and Republicans. I am a proud alumni of Rochester Lourdes, with a graduating class of 142, a Catholic high school where, in the midst of all the right-wing mindedness that is Rochester, Jesus Christ and eagle hockey shared center stage. By no means am i mocking or belittling my faith, rather quite the opposite my experience at Lourdes was absolutely pivotal in shaping the person i've become today (and it is my belief that I turned out alright) however the facts remain. Lourdes, being a Catholic community, I was raised with the principles that the Bible is the Word of God, abortion is murder, and the biological reductionist thinking is a one way ticket to hell. So in accordance with my past Pinker is probably the equivalent of the anti-Christ. (slight exaggeration) Hence, my decision to attend the U of M, in an effort to expose myself to another side of life (and Democrats) while semi-pursuing a degree in some field of social science (as law school looms dauntingly)
Thus, in light of my Catholic background I was very fundamentally disturbed when Steven Pinker in one fell-swoop eliminated culture, politics, and religion. Highlighted by the snide comment, “many people are sorry to ‘lose God.’” For Pinker its all in the genes, dubbing neuroscience as sovereign over all other aspects of life, a principle I have a difficult time wrapping my head around. I feel eliminating environment completely is to be blind to the world around you. Having been born into the heart of the science and medical world, an interesting paradox arises and is played out within my community, God vs science, with parents who by night preach the ways of the Bible and by day tamper with stem-cells in an on going effort to reveal scientific truth. Truth we are, at this time, not capable of understanding in its entirety. Pinker does in a sense encroach on traditional God territory, yet he is forthright, but I no longer know if the same is true for every member of my former world…?
Naturally, i will say that i am a soft spoken person. When i was in my country, it was not that bad. I was shy, but i was into stuff and i spoke my mind. I was not loud like others, but I had friends and i was into working and helping others. I later realized that i was the way i was, because my father is like that too. He doesn't talk much either. So i can say that it is in my gene like Steven Pinker says. I didn't have a blank slate when i was born. I took after my father in his character.
But i realized that now that i am here in the USA, the soft spoken person that i am has grown softer. Now i am really shy, i can't speak my mind. It is probably, the change of the country. The environment that i am in now has forced me to be even more soft spoken. So what i think is that first, we have our genes that play a part into who we are then our environment also plays a part in our life.
For me, naturally i think all humans are nice people. Later in our lives we decide for ourselves to be bad or to be good. When some things look like we have taken after our parents, it is probably because we are living with them and decide to do things like them. As we grow up we can decide to not be like them. My brother for example doesn't do anything like our parents. One example also is the Nigerian kid that decided to bomb the plane on Christmas day. He was not a bad person, it is the environment that he found himself in that put things like that into his mind. As human we can decide to be bad or good, no matter how we were brought up.
Premature, Persistent, & Pinker
My intended birth date was supposed to be January 19th, ironically my mother's birthday, but I chose October 19th instead. Being prematurely born three months early, I came out at a whopping 2 lbs, 4 oz, and 13 inches. Being as small as I was, I made a pretty big entrance. Fortunately, I was very healthy and actually breathing on my own.
The question I've always wondered is why was I so premature? The specific cause of premature labor is unknown. Some direct it towards medical risk factors such as uterine/cervix abnormalities, high blood pressure, kidney disease, diabetes, clotting disorder, etc. Others appoint it to lifestyle risk factors such as smoking, drinking, drug usage, domestic violence, stress, low income, etc.
Pinker would probably agree with the medical outlook, as he is pro biology-and-genetics-determines-everything. He would probably concur that my mother was prone to premature labor because it lay somewhere in her genetic makeup. He would also add that premature labor is one of the factors of adaptations to survival in the evolutionary theory and from this, premature babies have a lowered chance at surviving.
Lewontin, taking an opposite view, would agree that environmental factors are key to premature labor. He would argue that not everything lies within the lines of science. The relationship between the environment and a person's life is very important in the nature of the developing human.
Elliot may look more closely at the definition of premature labor and what that entails. He may look at how premature labor is presented in the media and how that effects mothers-to-be.
I don't really know the cause of my premature birth; all I do know is that I am thankful that I am a happy, healthy human being that I didn't end up with any chronic birth defects.
Music has had a presence in my life in some form or another for as long as I can remember. The relationship I’ve had with music and how I’ve expressed it has changed throughout the years, but always remained, at some level, intact. Since I was old enough to hold myself upright, the electric pianos in our house were a source of endless fascination and entertainment, starting with the red light that turned on and off with the power button, and eventually moving on to discover that (who knew?) sound came out when I pushed the black and white keys. According to my parents, at age eight I took the initiative to ask for lessons after several years of determined effort to teach myself to play. For years after that, my piano was my most valuable possession. For a while I wanted to be a concert pianist when I grew up—who knows if I would have ever reached the skill level necessary for that, but music was something I was at least sure would be with me for the rest of my life.
Where does this come from? What determines the things we will become interested in and possibly perceive ourselves as being good at? My father has been a professional jazz percussionist for about 40 years. Something he said to me once when I was younger stuck in my memory: He told me that, unlike him, I had a lot of natural talent when it came to playing music. That didn’t necessarily mean that he couldn’t be a good musician, but that to me, it came more easily. I don’t know if I believe that, but it makes me wonder if musical ability, or even interest, is in my blood. Looking at the situation I’m coming from, Pinker would likely see this as the obvious conclusion. My dad is a professional musician, of course that’s where my interest would stem from. But what about my dad? Neither of his parents had any musical inclination, at least none that was ever expressed. For me, thinking about this has raised questions about why and how we differentiate so sharply between the ideas of “nature” and “nurture” when it comes to what shapes our personalities and the people we become. Growing up with a musician for a father, I always had access to his instruments and equipment, and was constantly surrounded by the sound of jazz music floating up from his studio in the basement. Isn’t this all part of my environment, one that could have formed very differently had he been a math teacher or manager or one of many other numerous professions? Would Lewontin take this in itself as being a legitimate explanation for my interest? I’ve never thought it possible to reasonably argue that we are shaped solely by one or the other; I think environment and biology both have necessary, if not always equal, parts to play in the construction of human identity. Now, though, I wonder to what extent they are intertwined, and where, if at all, they begin to separate, rather than being two distinct forces that act on us independently.
Clinical Depression
There is no single adult in either my immediate or extended family that is not currently taking a prescribed medication for some sort of illness I described above. Selective serotonin reuptake inhibitors, or SSRI’s, have become very familiar to my relatives and have created a much better, easier existence not only for each individual, but for the entire family as a whole.
For many, it is obviously a commonplace occurrence to feel down on occasion and not always in a constant state of pure bliss. With regards to Carl Elliott, the question then arises as to when a person can formally be diagnosed with depression and be classified as depressed. How can we really measure such a phenomenon, what the difference is between sadness and depression, and why has it become so prevalent in our society? The increasing stresses of the economy, the awareness of available treatment, or just the fact that many people in today’s society are taking on way more than they can handle may contribute somewhat as to why our country has been deemed the “Prozac Nation.”
Personally, I have to side mostly with Pinker’s strong belief in genetics and biological determinism. These behaviors have been passed along through generations, and are correlated with one another. Addiction may result in depression, anxiety stems from OCD, etc. There is hard scientific evidence that backs up that these types of behaviors are hereditary. However, Lewontin’s view on the influence of the environment makes sense as well. Someone who has experienced a traumatic event has more of a reason to fall into depression than someone who has had no real trauma. A death, loss of a job, or sickness are situations we cannot ultimately control, and so it is more understandable that depression could be associated with these events. It’s the fact that someone who has the gene for depression may be less resilient to coping with these situations, or may just have a chemical imbalance in the brain causing their downcast behavior without any real, apparent cause. Thankfully, whether a person’s depression is due to biology, an environmental trigger, or a combination, it can now be regulated in most cases and these people are able to function just fine in normal society.
Mr. Threlfall, Miss. Burr, and Me⎯My Life in Science
In deference to Steven Pinker’s “it’s in the genes” polemic, I cannot credit heredity for pursuing science in my academic and professional lives. My parents and all my blood relatives had neither interest nor aptitude for science and, for that matter, never attended college. My upbringing pushed me into science so my history seems consistent with Richard Lewontin’s emphasis of the importance of environment in shaping one’s life. More than anything, my experiences in high school nurtured my lifelong embracement of science.
I attended Willow Glen High School, in San Jose, California, from 1952 to 1955. I had no plans to attend college or study science. My encounters with two teachers, William Threlfall and Harriet Burr, changed all that. Those experiences profoundly and forever affected my life.
The Science of Sailing
The part I love about it is it activates all my five senses immediately. I hear the sound of the sail as I look up to it and the blue sky. I touch the tiller, the main sheet and the backstays when I am skipping and I struggle to slide the sideboards up and down when I am not skipping. I feel the wind and its power to guide the C-Scow across Lake Calhoun. I also feel completely at peace with myself and the people I am with. I smell the sent of a polluted lake and I usually enjoy the taste of a cold Summit when I am on the boat.
Sailing is all about physics. The sail has a side force from the velocity of the wind. It is similar to an airplane wing on its side. The keel or centerboard catches the momentum to keep the boat from moving forward. That is like the wing underneath the boat. The main sheet controls the tightness of the sail.
When I was reading the first chapter of Pandora’s Hope I kept asking myself, “what would I be doing if I didn’t believe in reality?” I sail like there was no tomorrow. Everyone in the class seems to believe in reality because we are all in school committed to learning about this topic. So what would everyone be doing if they didn’t believe in reality?
The Road to Addiction
Steven Pinker would no doubt argue that the cause is purely genetic, and there is quite a lot of data to back him up. Several recent studies, from those showing that children with addicted parents are much more likely to become addicts themselves than their peers, to the finding that monozygotic twins are much more likely to both become addicts than faternal twins, have lead geneticists on the quest to find the "addiction gene". They argue that the faster we can gain more knowledge of how our genes lead, the faster we can create more effective treatments for addiction to replace weaning the addict off of their drug, like with nicotine gum, or going cold turkey.
Richard Lewontin, on the other hand, would say that addiction is the product of our environment. Conventional wisdom would seem to support this. How could are genes cause us to become addicted to something if we've never tried it? Rather, if a child grows up around a lot of alcohol or drug use, either in their household, school or neighborhood, they are more likely to see this as a normal part of life, and thus more likely to partake themselves as they grow up.
I find that my own opinion lies somewhere between the two. While the data demonstrating a link between monozygotic twins and addiction is undeniable, I am uncomfortable saying that genes are the be all-end all determining factor. My own experiences have led me to the opinion that genes play an important factor in a person's susceptibility to addiction, or its threshold. Someone who is genetically predisposed to addiction does not become an alcoholic after their first drink. From what I have seen, regardless of what kind of genetic history they come from, a person usually establishes some sort of drinking habit (nothing out of the ordinary, a glass of wine at dinner every once in a while or a couple of beers on the weekend) before they fall into full-blown addiction. It is genetics that determines why some people can hold that habit throughout while for others it can lead to dependency.
A person's society and environment have an equally strong sway over their likelihood of becoming an addict as genetics, in my view. This is what leads to the person to establish their habit in the first place. If they grow up and live in an environment where smoking is regarded as cool, or even just normal, they are much more likely to begin having the occasional cigarette than someone whose parents or teachers constantly reminded them of the dangers of smoking and whose peers did not encourage it. I believe environment also plays a huge factor in what sort of substance is the cause of the dependency, any where from alcohol and drugs to exercise, food and gambling.
So, while my genes may cause me to have a more addictive personality than some of my peers, it will be my environment and how it influences my decisions that will decide just what sort of addictions, if any, will manifest themselves later in my life.
Alcoholism- disease or decision?
I think Pinker would probably fight for the side of genetics being a strong influence, tipping this scale closer towards disease or disorder. Looking back through my family history I have 2 grandparents, 3 or more aunts and uncles, my father, and even my own sister who have been captured by the grips of alcohol. This close correlation makes me believe that genes do have a strong say in whether or not someone will be an alcoholic. This also scares me though because if genes are the problem, then could I be affected by alcoholism? And if so, will it be out of my hands and out of my power?
Lewontin, standing along society as a key role in the way people are, several examples pop in up my mind regarding alcohol in society. Commercials on tv, along with billboards for alcohol sales, are meant to be portrayed as sexy, classy, and almost euphoric. It makes the world want to believe that confidence, success, and happiness all come from this product, which can often be misleading because they do not mention the hangover, money spent, and relationships that can possibly be ruined because of it.
I also think John Locke has a point by arguing the blank slate. I wonder whether or not a child's decisions with alcohol are influenced by their parents' and siblings' abuse of this drug because it is what they see as they grow up. I think parents and other family members sometimes don't realize how strongly their actions can affect the young minds that grow up around them.
Overall, I think alcoholism is a tricky and deceiving monster in the world. The exact 'gene' has not yet been discovered to deem it only genetics and all of the other variables in this equation have some legitimacy but no completely satisfactory answer to whether or not alcoholism is disease or decision.
The Science of Sailing
The part I love about it is it activates all my five senses immediately. I hear the sound of the sail as I look up to it and the blue sky. I touch the tiller, the main sheet and the backstays when I am skipping and I struggle to slide the sideboards up and down when I am not skipping. I feel the wind and its power to guide the C-Scow across Lake Calhoun. I also feel completely at peace with myself and the people I am with. I smell the sent of a polluted lake and I usually enjoy the taste of a cold Summit when I am on the boat.
Sailing is all about physics. The sail has a side force from the velocity of the wind. It is similar to an airplane wing on its side. The keel or centerboard catches the momentum to keep the boat from moving forward. That is like the wing underneath the boat. The main sheet controls the tightness of the sail.
When I was reading the first chapter of Pandora’s Hope I kept asking myself, “what would I be doing if I didn’t believe in reality?” I sail like there was no tomorrow. Everyone in the class seems to believe in reality because we are all in school committed to learning about this topic. So what would everyone be doing if they didn’t believe in reality?
A gay gene?
Self Motivation
If I remember right, it was Latour that suggested that part of science is classifying. I felt that in order to tell a story about science in my life I would have to classify myself based on the life I've led and the things I've done. Thus I classified myself with a characteristic.
Elliot would entertain the question: Where did this 'self-motivation' come from?
Pinker would look to my genes for the answer. He would probably then follow the family lineage to see what my parents and grandparents are like. He would find that my father and grandfather are both very successful business people and my mother is very religious and lives her life for God which Pinker would call a 'Christian Fundamentalist.' Nonetheless Pinker would realize that most of my family and I have a few underlying characteristics in common that make us self-motivated. We are goal-oriented and for the most part perfectionists.
Lewontin would argue that society has played a major role in my self-motivation. If he were to look to the teachers at my high school, specifically my math teacher Mr. Erickson, hewould find that Mr. Erickson definitely had a positive impact on me. In fact, one of the sayings I now live by is on a poster in Mr. Erickson's room and it comes from Vince Lombardi, "Practice does not make perfect. Only perfect practice makes perfect."
Saturday, January 30, 2010
Smart, well-educated and rich.
John Locke would argue that we are all born with a blank slate and the experiences we have growing up and the effects of the treatment we receive from our parents decide our behaviors. In effect, every child in a family is just as malleable as the next, and our environment shapes who we become.
Nevertheless, neuroscience once again challenges the blank slate idea. The fraternal birth order effect theory of homosexuality establishes that there is a 33% increase in the probability of homosexuality in a male child with each older male sibling. In short, the theory claims that changes induced in the mother’s womb when gestating a boy affects subsequent sons. Furthermore, the American Thoracic Society recently published that the order of birth has a significant impact on the long-term strength of a child's allergic defenses.
Convincing arguments on both sides of the spectrum make it difficult for me to decide on exactly the reasons for my subscription to the birth order hypotheses. In this case, I tend to side more the Steven Pinker. His hybrid explanation that correlates genes and environment with behavior makes the most sense to me. However, your experiences and conformity or non-conformity with the different birth order descriptions may lead you to a very different conclusion.
Friday, January 29, 2010
Blog Posting #1 (due Sunday 1/31, 11:59 P.M.)
Like What? Thinking back, I (Robin) realized that I was a fidgity, loud, easily distracted (Oooo! A shiny thing….!) non-punctual, chaotic kid. The nuns in elementary school knew exactly what I was: 'an ill-behaved child' who was not 'working up to his potential.' The appropriate treatment was time-outs, notes-to-mom, and occasional paddling. Today, I would be diagnosed ADHD and probably treated with Ritalin or Adderal. And the nuns can't paddle (by law). My life would have been different, for sure, but who knows how?
In High School, we heard all the time about who was and who wasn't 'college material.' My SAT scores proved that I was 'college material,' and I went to college (in spite of crappy grades).
This is science at work, naming, categorizing, measuring, diagnosing, and thus creating (bad kid / ADHD kid or 'college material'). These decisions and labels have consequences, shaping lives. I might try to recall a specific 'bad kid' story and see if there are other explanations. I might speculate on how my family life made me 'college material.' Carl Elliot would help by framing historically-local 'disorders,' and talking about the 'semantic contagion' involved in lots of articles about ADHD and child-rearing. I think my whole attitude toward 'school' got shaped here. Pinker would look to my genes (and my OC father and alcoholic but literate parents). Lewontin would insist that naming a kid 'disordered' (or not) changes him or her, and that the diagnoses mirror and legitimate already-present societal beliefs.
So really: like anything where science worked on or around you. Let your friends know about you. Use our readings to frame and illuminate.
Concepts and Issues—from our work (some of many--might help):
Big Ones: All societies have always had 'theories' of Human Nature (science) and these are active in creating specific Political Systems (politics). Always intertwined.
• determinisms (genetic, biological, cultural and so on)
• reductionisms (limiting our view to a few of many possible causes and influences)
• boundary work (ways science limits, defines, circumscribes)
• ideology (the world view that makes things normal, natural, common-sense. It's always 'political')
• technologies (tests, surgeries, therapies, names-and-definitions, measuring and seeing instruments, ways of talking or writing)
• 'blank slate' (or tabula rasa)
• 'ghost in the machine' (our friend the self or soul)
• noble savages or states of nature
• and with these three (above): John Locke, Thomas Hobbes, Rene Descartes, Jean Jacques Rousseau--and Ahnoald Schwarzenegger (they'll ALL 'be back'!)
• sociobiology or evolutionary psychology (as disciplines)
• neuroscience / cognitive science (also disciplines—CF: 'boundary work')
Wednesday, January 27, 2010
(Better) Genetic Understanding
To be honest, I'm trying to find various ways to negate the premises of the article, although that is ultimately just a knee-jerk reaction I have. I don't think this is the type of blog post that is meant to be epic, or even argument-provoking. I liked it - so I put it up. Whaddya'll think?
Genetic tests give consumers hints about disease risk; critics have misgivings
By Chris Berdik
Special to The Washington Post
Tuesday, January 26, 2010; HE01
Last fall, Sgt. Timothy Gall, an Army medic stationed at Fort Belvoir, sought clues to the multiple sclerosis and heart disease that ran in his family by looking into his DNA. All it took was some spit and about a thousand bucks.
He didn't go to a doctor. Instead, Gall, 30, joined the growing number of consumers ordering scans of their DNA directly from private companies. A handful of companies such as 23andMe, Navigenics and Decode Genetics offer customers a personal peek at their genetic code, finding variations linked to certain traits, diseases and drug sensitivities -- a process known as genotyping. As the cost of genetic scanning has dropped and the pace of genetic discovery quickened, these companies began springing up about three years ago. Now, as they're attracting more and more customers, they're also drawing more scrutiny.
Once Gall decided to try it, he persuaded his father to be genotyped, too. As a quality check, both men mailed saliva samples to two testing firms: 23andMe, based in California's Silicon Valley, and Decode, of Reykjavik, Iceland. "I figured I'd only pay attention to the results where both companies agreed," Gall said.
Gall found some of the results "useful," including a warning that he might be unusually sensitive to blood-thinning medications and an alert that some of his ancestors were Ashkenazi Jews, who have an increased risk of certain diseases. Other findings aligned well with his own experiences: One of his genetic variants makes him less able to taste bitter flavors and another means he's more likely to go bald.
But the results related to his most important concerns were perplexing: Despite the fact that his father and other close relatives have multiple sclerosis, both companies agreed that Gall and his father had a below-average likelihood of getting the disease. And they found an average predisposition for heart disease, even though heart disease runs in his family and even though his father had a heart attack at age 50 despite eating right, exercising and having very low cholesterol.
How much it costsGall's experience illuminates the controversy around direct-to-consumer genotyping. Advocates say these services can guide people toward appropriate preventive medical care, help them choose medications and motivate them to make lifestyle changes. But others criticize the companies for overselling their supposed insights and producing reports that untrained consumers might easily misunderstand. The American Medical Association recommends that a physician always be involved in genetic testing, and the lack of physician involvement has made the tests technically illegal in several states.
The only current federal oversight of direct-to-consumer genetic testing is truth-in-labeling enforcement by the Federal Trade Commission. But an advisory committee within the Department of Health and Human Services has been studying the companies and plans to send its recommendations on regulation to HHS Secretary Kathleen Sebelius within the next few weeks.
For the time being, it's up to consumers to be careful -- beginning with understanding what genetic testing companies are out there. There's a wide range: Some test risk for a single health condition, such as celiac disease, or are focused on telling the customer something about his ancestry; their services typically cost between $100 and $500. Others offer full genome sequencing at prices up to about $100,000.
In between are genotyping services, which look at just a fraction of the customer's DNA but provide a broad range of genetic information at prices of $400 to $1,000. Rather than reading an entire genome, which contains about 3 billion base pairs of chemical building blocks, genotyping companies scan hundreds of thousands of base pairs looking for "single nucleotide polymorphisms" (known as SNPs, pronounced "snips"). A SNP is a variation of a single DNA base pair that studies have shown to be more common in a certain population: A particular SNP might be more common among people who develop breast cancer, for example; another, among schizophrenics; yet another, among individuals who live to be 100.
Genotyping companies test for SNPs associated with dozens of diseases, traits and drug reactions -- everything from Parkinson's to lupus to earwax type. They typically predict a customer's genetic risk by calculating how often that condition occurs among people of the customer's general age, sex and ethnicity, then factor in the presence or absence of the relevant SNP. The customers explore their personalized results via secure Web sites. Some companies provide updates to the customer's profile as scientists uncover more SNP associations.
How much it mattersThird-party audits by independent geneticists have found the major direct-to-consumer genotyping companies to be more than 99 percent accurate when it comes to locating the DNA variants. But not all variants are equally meaningful. Some extremely rare genetic variations can increase disease risk by several hundred percent, but most SNPs are much less significant, and many of those tested by genotyping companies raise risk by as little as 2 or 3 percent.
Leslie Biesecker, a senior investigator in the National Human Genome Research Institute of the National Institutes of Health, says SNPs alone are of limited practical use, because the additional disease risk associated with any bit of DNA may be multiplied or completely overridden by other DNA variations that aren't known, by the location of a given genetic sequence within the genome, or by environmental and lifestyle factors.
"If you could take the integrated influences of a bunch of genetic variants and a number environmental inputs, and you put that into a formula, then you'd have the potential to make a good prediction," Biesecker says. "But the SNPs themselves are just inputs."
Another criticism is that the same person sometimes gets very different results from DNA submitted to more than one genotyping company. In October 2009 , a group of scientists writing in the journal Nature said they submitted five DNA samples to both 23andMe and Navigenics and had them tested for risk of 11 disease. For seven of the diseases, at least one sample got contradictory risk results from the two companies. Many geneticists suggest that a cheaper way to judge your chances of developing a disease is to know your family history.
Representatives from the leading direct-to-consumer genetics companies say they're upfront about what their tests' algorithms can and can't reveal. They point out that most company Web sites have an extensive Q&A section about SNPs and what the numbers show, as well as disclaimers. Navigenics, for example, notes that reports and risk estimates "are for informational purposes only and are not intended to substitute for professional medical advice, diagnosis or treatment."
But Navigenics also puts this sales pitch on its home page: "We use the latest science and technology to give you a view into your DNA, revealing your genetic predisposition for important health conditions and empowering you with knowledge to help you take control of your health future."
Robert Green, a Boston University professor of neurology, genetics and epidemiology, says it's important to distinguish fly-by-night companies using genetic tests to push nutritional supplements or skin-care products from "the leading companies, which are very responsible about writing clear and accurate material on their Web sites." Nevertheless, he adds, there's a potential conflict between total honesty and maximum profit, "because these companies are selling the idea that genetics matters."
'It calmed my fears'Customers often say they understood exactly what they were buying.
"I actually had markers decreasing my risk for breast cancer," says Alysen Plennert, who signed on with 23andme about a year ago. "It calmed my fears a little, but they make it very clear that just because you're at reduced risk, doesn't mean you're not going to get the disease."
Plennert, of Chicago, had a reason for probing her genes: Adopted as a baby, she had no information on her birth family. She'd had several unusual health problems as a young woman: early indications of glaucoma and MS, a lump in her breast at age 27 (it turned out to be dense tissue) and then unexplained chest pains last year.
"These kinds of things kept happening to me, and it made me wonder why they were happening and what else I should look out for," she says. According to 23andMe, Plennert has a higher than average genetic risk for glaucoma, psoriasis, multiple sclerosis, colitis and thyroid cancer.
Some customers say a personal genetic risk profile provided extra motivation to change their lifestyles. After being told he has a genetic susceptibility for skin cancer, for example, Gall says he'll definitely be slathering on sunscreen. Meanwhile, the SNPs of Doe Rieger, a 23andMe customer from northern New Jersey, indicated a higher risk for several cancers. So she asked her doctor to perform extra tests, which revealed a large tumor hiding under her stomach. It was benign, but because of its size and its potential to become cancerous, it was removed. (23andMe provided Rieger and Plennert's contact information for this story.)
Tuesday, January 19, 2010
Welcome!
At the beginning of the second week of classes we'll distribute detailed information about blog posting, and the work schedules for each unit will tell you exactly when required posts and comments are due. You are also welcome and encouraged -- both you in the class, and you who may have stumbled upon this blog from elsewhere -- to post or comment at any time. We simply ask that everyone, students and non-students alike, follow the four rules for cooperative conversation set down by the linguist H. Paul Grice...
1) QUALITY. You are free to express any viewpoint on any issue, but you must back any statement you make with sufficient evidence. This will often mean citing a page in a book, or other relevant sources.
2) QUANTITY. Express your viewpoints thoroughly, with good argument and evidence; at the same time, avoid writing unnecessarily long or repetitive posts.
3) RELATION. Keep your posts and comments relevant. Read other people's posts -- including our posting assignments -- before you write posts or comments, and we'll keep a much more coherent conversation going.
4) MANNER. Write as clearly as possible. The point is to make yourself clear to the rest of us, and to convince of the truth of your arguments.
...as well as one fifth rule of our own:
5) RESPECT. Please respect all participants in the discussion at all times -- even (or perhaps especially) when you must respectfully disagree. No flame wars, please!
And as always, if you have any trouble posting, or understanding posting assignments, or in any other way, feel free to contact us.