Ssm Winter 2007 Ethpol Gene Counsel
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ethics + policy
Credit: U.S. Department of Energy Human Genome Program, http://www.ornl.gov/hgmis
New Genetic Counseling Program at Stanford School of Medicine
A new generation of genetic counselors will help transfer knowledge from the lab to the patient by Hanh Nguyen
W
hat’s in your body’s future? Individuals now have the option to discover their disposition for genetic disorders such as cancer even before they develop symptoms. By combining the genetics laboratory with the doctor’s office, patients are now able to have a better understanding of the influence of their genes on their health.
Genes and Genetics In 2004, the human genome was mapped. Scientists can identify many genes in our bodies as well as their variations that predispose individuals to certain medical issues. For example, BRCA1 and BRCA2 are two genes that, when mutated, greatly increase a person’s risk for developing breast cancer. Combined with the wealth of information provided by the human genome project, genetic tests that analyze portions of a patient’s DNA sequence can help individuals determine their chances of developing terminal or disabling diseases. This information, however, often comes in the form of complex sequences of genes that contribute to disease risk in many different ways. Some genes may partially add to a
Unfortunately, many doctors are not fully familiar with the genetic map, since it is primarily constructed by research scientists. Researchers themselves are also not fully equipped to interface with patients, as their jobs focus on research as opposed to counseling and patient rapport. Who, then, can balance the sympathy of a doctor with the knowledge of a researcher? “There is a real need for genetic counselors to kind of translate all this information that we’re getting from genetic testing to families,” notes Louanne Hudgins, Professor of Pediatrics and one of the key contributors to this program. “There are only currently three genetic counseling programs in the western US.”
A genetic map for cancer has many paths, pit stops, and forks, and patients—mainly those who have a family history of cancer—are faced with the challenge of navigating this map given their genetic information. disease risk only in the presence of certain environmental factors or another specific gene. A genetic map for cancer has many paths, pit stops, and forks, and patients—mainly those who have a family history of cancer—are faced with the challenge of navigating this map given their genetic information.
60 stanford scientific
A New Generation of Counselors In response to this dilemma, the Stanford School of Medicine has established a new Master of Science program in Genetic Counseling. Stanford’s program, a collaboration between the Department of Genetics and the Department of Pediatrics, will be the only one of its kind in Northern
Many genes involved in human disease have been mapped to specific locations on the 23 chromosomes. This schematic of chromosome 17 illustrates that some genes that are contained within it are implicated in different human diseases including breast cancer. Photo Credit: U.S. Department of Energy Genome Programs, http://genomics.energy.gov
California. “Stanford has a very strong clinical program with general genetics, metabolic genetics, prenatal genetics, cancer genetics, and biomedical ethics,” says Hudgins. “Because of that, we thought that we could really develop a great program in genetic counseling here.” The program will begin in the fall of 2008. Each year, six students will be trained how to interpret genetic tests and transfer knowledge from the laboratories to the patients, helping them understand and deal with the test results. “Stanford’s strengths are really a strong clinical program: we have a cytogenetics lab to look at chromosome abnormalities, a molecular lab to do molecular testing, and a very strong biochemical genetics lab as well,” says Hudgins. “That’s what makes [the Genetic Counseling Program] unique.” In short, the counselors will transfer knowledge from the laboratories to the doctor’s office. “Genetic counselors work with physicians, contact the family of a patient to get a complete family history, take a medical history and decide what records are needed,” explains Hudgins. “They continue to work with a physician, and finally after a diagnosis is made, they actually can do the genetic counseling.”
layout design: Stephanie Le
From the Patient’s Point of View
ethics + policy
According to studies published in the Journal of Clinical Oncology, more than half of the women surveyed would seek testing for cancer-causing mutations if their family history indicates a 50% percent risk of genetic inheritance. Not surprisingly, six months after testing, women who receive an uninformative or positive test report higher levels of distress that those with negative tests. This is where the genetic counselor steps in; he/she can provide support to help alleviate the anxiety. Along with moral support, the role of a genetic counselor is to help patients decide what to do next. Women at risk for breast cancer have more than one preventive option to choose from: periodical breast MRIs for reliable tumor screenings, or breast removal to avoid the disease completely. Genetic counselors aim to present these treatment options objectively and optimistically. “There would be some stress when a woman finds out that she carries a breast cancer gene,” elaborates Hudgins, “but then she would know, ‘I am at risk, but I can take control. I can have very vigorous screening or I can have a masectomy.’ It may even be more stressful to always wonder about your genetic status if you know you have a family history of cancer.” “It’s always a choice [for individuals to be tested],” notes Hudgins, “and for things like that we always make sure that people understood the implications before they took the test.” Counselors help patients put their genetic profiles in perspective. For example, some genetically inherited risks are very low, and genetic counselors can help patients understand the bigger picture of their health concerns. “If you find out that you carry a gene that makes you even more susceptible,” adds Hudgins, “Then maybe you’ll try that much harder to take good care of yourself, to watch your diet and make healthier choices.” S HANH NGUYEN is a sophomore who finds inner balance through espressos and feeding waterfowl. She is majoring in Biology and Chinese. To Learn More Visit Stanford’s genetic counseling website: http://cancer. stanfordhospital.com/forPatients/services/geneticCounseling Read Matloff ET, Shappell H, Brierley K, et al. What would you do? Specialists’ perspectives on cancer genetic testing, prophylactic surgery, and insurance discrimination. J Clin Oncol 2000;18:2484-92. Read Schwartz MD, Peshkin BN, Hughes C, et al. Impact of BRCA1/ BRCA2 Mutation Testing on Psychologic Distress in a Clinic-Based Sample. J Clin Oncol 2002;20:514-20.
volume v
61
Credit: U.S. Department of Energy Human Genome Program, http://www.ornl.gov/hgmis
New Genetic Counseling Program at Stanford School of Medicine
A new generation of genetic counselors will help transfer knowledge from the lab to the patient by Hanh Nguyen
W
hat’s in your body’s future? Individuals now have the option to discover their disposition for genetic disorders such as cancer even before they develop symptoms. By combining the genetics laboratory with the doctor’s office, patients are now able to have a better understanding of the influence of their genes on their health.
Genes and Genetics In 2004, the human genome was mapped. Scientists can identify many genes in our bodies as well as their variations that predispose individuals to certain medical issues. For example, BRCA1 and BRCA2 are two genes that, when mutated, greatly increase a person’s risk for developing breast cancer. Combined with the wealth of information provided by the human genome project, genetic tests that analyze portions of a patient’s DNA sequence can help individuals determine their chances of developing terminal or disabling diseases. This information, however, often comes in the form of complex sequences of genes that contribute to disease risk in many different ways. Some genes may partially add to a
Unfortunately, many doctors are not fully familiar with the genetic map, since it is primarily constructed by research scientists. Researchers themselves are also not fully equipped to interface with patients, as their jobs focus on research as opposed to counseling and patient rapport. Who, then, can balance the sympathy of a doctor with the knowledge of a researcher? “There is a real need for genetic counselors to kind of translate all this information that we’re getting from genetic testing to families,” notes Louanne Hudgins, Professor of Pediatrics and one of the key contributors to this program. “There are only currently three genetic counseling programs in the western US.”
A genetic map for cancer has many paths, pit stops, and forks, and patients—mainly those who have a family history of cancer—are faced with the challenge of navigating this map given their genetic information. disease risk only in the presence of certain environmental factors or another specific gene. A genetic map for cancer has many paths, pit stops, and forks, and patients—mainly those who have a family history of cancer—are faced with the challenge of navigating this map given their genetic information.
60 stanford scientific
A New Generation of Counselors In response to this dilemma, the Stanford School of Medicine has established a new Master of Science program in Genetic Counseling. Stanford’s program, a collaboration between the Department of Genetics and the Department of Pediatrics, will be the only one of its kind in Northern
Many genes involved in human disease have been mapped to specific locations on the 23 chromosomes. This schematic of chromosome 17 illustrates that some genes that are contained within it are implicated in different human diseases including breast cancer. Photo Credit: U.S. Department of Energy Genome Programs, http://genomics.energy.gov
California. “Stanford has a very strong clinical program with general genetics, metabolic genetics, prenatal genetics, cancer genetics, and biomedical ethics,” says Hudgins. “Because of that, we thought that we could really develop a great program in genetic counseling here.” The program will begin in the fall of 2008. Each year, six students will be trained how to interpret genetic tests and transfer knowledge from the laboratories to the patients, helping them understand and deal with the test results. “Stanford’s strengths are really a strong clinical program: we have a cytogenetics lab to look at chromosome abnormalities, a molecular lab to do molecular testing, and a very strong biochemical genetics lab as well,” says Hudgins. “That’s what makes [the Genetic Counseling Program] unique.” In short, the counselors will transfer knowledge from the laboratories to the doctor’s office. “Genetic counselors work with physicians, contact the family of a patient to get a complete family history, take a medical history and decide what records are needed,” explains Hudgins. “They continue to work with a physician, and finally after a diagnosis is made, they actually can do the genetic counseling.”
layout design: Stephanie Le
From the Patient’s Point of View
ethics + policy
According to studies published in the Journal of Clinical Oncology, more than half of the women surveyed would seek testing for cancer-causing mutations if their family history indicates a 50% percent risk of genetic inheritance. Not surprisingly, six months after testing, women who receive an uninformative or positive test report higher levels of distress that those with negative tests. This is where the genetic counselor steps in; he/she can provide support to help alleviate the anxiety. Along with moral support, the role of a genetic counselor is to help patients decide what to do next. Women at risk for breast cancer have more than one preventive option to choose from: periodical breast MRIs for reliable tumor screenings, or breast removal to avoid the disease completely. Genetic counselors aim to present these treatment options objectively and optimistically. “There would be some stress when a woman finds out that she carries a breast cancer gene,” elaborates Hudgins, “but then she would know, ‘I am at risk, but I can take control. I can have very vigorous screening or I can have a masectomy.’ It may even be more stressful to always wonder about your genetic status if you know you have a family history of cancer.” “It’s always a choice [for individuals to be tested],” notes Hudgins, “and for things like that we always make sure that people understood the implications before they took the test.” Counselors help patients put their genetic profiles in perspective. For example, some genetically inherited risks are very low, and genetic counselors can help patients understand the bigger picture of their health concerns. “If you find out that you carry a gene that makes you even more susceptible,” adds Hudgins, “Then maybe you’ll try that much harder to take good care of yourself, to watch your diet and make healthier choices.” S HANH NGUYEN is a sophomore who finds inner balance through espressos and feeding waterfowl. She is majoring in Biology and Chinese. To Learn More Visit Stanford’s genetic counseling website: http://cancer. stanfordhospital.com/forPatients/services/geneticCounseling Read Matloff ET, Shappell H, Brierley K, et al. What would you do? Specialists’ perspectives on cancer genetic testing, prophylactic surgery, and insurance discrimination. J Clin Oncol 2000;18:2484-92. Read Schwartz MD, Peshkin BN, Hughes C, et al. Impact of BRCA1/ BRCA2 Mutation Testing on Psychologic Distress in a Clinic-Based Sample. J Clin Oncol 2002;20:514-20.
volume v
61
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