[Lecture] Genetic testing
Mar. 2nd, 2006 03:55 pmLast night I went to the first of four Longwood Seminars, talks about medical topics at Harvard Medical School that are open to the public. I hadn't been anywhere on that campus before; Avenue Louis Pasteur is an interesting mix of classical (including Boston Latin) and modern (the building with the circular lecture hall we were in). I don't know if the street lights are specially designed for something in particular (avoiding light pollution? energy efficiency?), but it wasn't lighting the street, which was noticeably dark when there weren't building lights to supplement.
Anyway. Three people spoke. Dr. Raju Kucherlapati gave an introduction to genetics, discussing how the Human Genome Project has opened the way for genetic testing.
Dr. Mira Irons (a pediatrician as well as a geneticist) went into more detail about DNA testing, how there are hundreds of gene abnormalities (but only some of which are disease causing, and not all disease-causing mutations are detectable), about what is done exactly (a specific test on isolated white blood cells), reasons for testing (for medical diagnosis, but also for decision making, such as testing for carrier status or prenatal testing), and some discussion of choice and risk. For instance, if there is a medical condition that is only adult onset (without treatment/lifestyle changes that could affect it before then), don't test anyone under 18, so there aren't issues of telling/not telling a minor. There's not one general test for abnormalities, so any sample sent out for testing is going to be for something specific, and if there's a family member who already has X, they're going to be tested first, for easier comparison. It surprised me to hear how quickly things are changing, with new tests becoming available all the time. There can be a lot of emotion clouding people's evaluation of risk (, especially with prenatal testing). (Plus I suspect USians aren't well versed in understanding probabilities of risk.)
Dr. Michael Murray spoke last, talking about the decision to be tested, with the possibility for genetic fatalism ("I have the gene for X, so it doesn't matter what I do."/"I don't have the gene for X, so it doesn't matter what I do.") (I hadn't realized that only a fraction (far less than half) of people who smoke get lung cancer; the current theory is that smoking + genetic predisposition = lung cancer.). The field is so new that there's a concern about DNA testing becoming a commodity (he showed some commercial sites).
During the Q&A session (questions submitted on slips of paper to the moderator) other issues were raised. While health insurance is not supposed to allow genetic testing as the basis for pre-existing conditions, life and disability insurance are not similarly constrained, so this might become a problem. It's unclear what will happen vis a vis genetic testing and employment (hiring/firing), though President Clinton said federal employees should not be discriminated against on the basis of genetic testing, and IBM has made a similar statement. Pharmacogenetics were touched on briefly, not enough for me to learn something new. And of course there were anecdotes.
A number of informational sites:
GeneTests has information about gene testing and labs that are available (designed more for medical people than laypeople).
Educational materials are available through DNA Interactive.
Guide to gnetic disorders at Your Genes, Your Health.
Make a family medical history that you can share with family members and/or doctors.
Next topic (March 15): Maintaining Mental Agility: From brain aerobics to repair
After the talk, I estimated that taking the T would take me about an hour to get home, with wait times and walking to and from. So I decided to walk instead, and that also took me an hour. I win :-).
Anyway. Three people spoke. Dr. Raju Kucherlapati gave an introduction to genetics, discussing how the Human Genome Project has opened the way for genetic testing.
Dr. Mira Irons (a pediatrician as well as a geneticist) went into more detail about DNA testing, how there are hundreds of gene abnormalities (but only some of which are disease causing, and not all disease-causing mutations are detectable), about what is done exactly (a specific test on isolated white blood cells), reasons for testing (for medical diagnosis, but also for decision making, such as testing for carrier status or prenatal testing), and some discussion of choice and risk. For instance, if there is a medical condition that is only adult onset (without treatment/lifestyle changes that could affect it before then), don't test anyone under 18, so there aren't issues of telling/not telling a minor. There's not one general test for abnormalities, so any sample sent out for testing is going to be for something specific, and if there's a family member who already has X, they're going to be tested first, for easier comparison. It surprised me to hear how quickly things are changing, with new tests becoming available all the time. There can be a lot of emotion clouding people's evaluation of risk (, especially with prenatal testing). (Plus I suspect USians aren't well versed in understanding probabilities of risk.)
Dr. Michael Murray spoke last, talking about the decision to be tested, with the possibility for genetic fatalism ("I have the gene for X, so it doesn't matter what I do."/"I don't have the gene for X, so it doesn't matter what I do.") (I hadn't realized that only a fraction (far less than half) of people who smoke get lung cancer; the current theory is that smoking + genetic predisposition = lung cancer.). The field is so new that there's a concern about DNA testing becoming a commodity (he showed some commercial sites).
During the Q&A session (questions submitted on slips of paper to the moderator) other issues were raised. While health insurance is not supposed to allow genetic testing as the basis for pre-existing conditions, life and disability insurance are not similarly constrained, so this might become a problem. It's unclear what will happen vis a vis genetic testing and employment (hiring/firing), though President Clinton said federal employees should not be discriminated against on the basis of genetic testing, and IBM has made a similar statement. Pharmacogenetics were touched on briefly, not enough for me to learn something new. And of course there were anecdotes.
A number of informational sites:
GeneTests has information about gene testing and labs that are available (designed more for medical people than laypeople).
Educational materials are available through DNA Interactive.
Guide to gnetic disorders at Your Genes, Your Health.
Make a family medical history that you can share with family members and/or doctors.
Next topic (March 15): Maintaining Mental Agility: From brain aerobics to repair
After the talk, I estimated that taking the T would take me about an hour to get home, with wait times and walking to and from. So I decided to walk instead, and that also took me an hour. I win :-).