April 12, 2013
Tags:
BRCA1, BRCA2, incomplete penetrance, 23andMe, exome, genome, genetic counseling, amyloidosis, Alzheimer, Parkinson
Disease-causing mutations in healthy people suggest new drug targets. (NHGRI)
I’m uneasy counseling a patient for mutations in the BRCA1 or BRCA2 cancer susceptibility genes. Typically, she’ll have a “first degree relative” – usually a mother or sister – with a related cancer, or might even have a test result in hand. This happened a week ago.
FUZZY GENETIC INFORMATION
My patient comes from a long line of female relatives who’d died young from breast or ovarian cancer. She’s already been
tested and knows she has a BRCA1 mutation. Will she get the family’s cancer? Knowing would enable her to decide whether and when to undergo surgery to remove her breasts, ovaries, and uterus.
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February 5, 2013
Tags:
breast cancer, direct-to-consumer genetic testing, 23andMe, BRCA1, genetic counseling, genome
A breast cancer cell. (Natl Cancer Inst)
In the usual trajectory of passing on genetic information, the older tell the younger, when the time is right. Typically, a patient has a genetic test because family history, ethnic group, or some other clue suggests to an astute practitioner an increased risk of something specific.
If a test reveals a mutation that could cause a disease, then the patient and perhaps her partner discuss how, when and what to tell their children – in the best of circumstances, with the help of a genetic counselor.
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February 15, 2012
Tags:
direct-to-consumer genetic testing, BRCA1, breast cancer, 23andMe, Ricki Lewis, Alden March Bioethics Institute, Myriad Genetics, gene patenting, Ashkenazi Jews, genetic counseling, spit test, Parkinson's disease, National Institutes of Health, More Magazine
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“Are you still collecting stories about DTC testing? I've got one for you!” my grad student L.W. e-mailed a few days ago. Little did I know her family's experience would change my mind about direct-to-consumer genetic testing.
L.W. had taken my online course “Genethics” in 2008 for the master’s program at the
Alden March Bioethics Institute of Albany Medical College.
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October 18, 2011
Tags:
whole exome sequencing, human genome, DNA, Michael Hayden, James Watson, Han G. Brunner, International Congress of Human Genetics, Complete Genomics, Radoje Drmanac, Segolene Ayme, Joris Veltman, Luanne Hudgins, OrphanNet, rare diseases, Huntington's disease, BRCA1, Lynch syndrome, incidentaloma, Leslie Biesecker, National Human Genome Research Institute, Personal Genome Sequencing: Too Much Information?, ICHG2011
October 11-15, 6,200 researchers and clinicians met in Montreal for the 12th International Congress of Human Genetics. After my brain recovered from the long days of meetings, one panel discussion emerged as my favorite: what I thought was going to be a dull comparison of DNA sequencing technologies turned out to be a spirited look at
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October 11, 2011
Tags:
James Watson, International Congress of Human Genetics, whole genome sequencing, ApoE4, American Society of Human Genetics, Kevin Davies, schizophrenia, $1, 000 Genome, Craig Venter, Alzheimer's disease, Myriad Genetics, BRCA1
Montreal, Oct. 11, 2011 -- James Watson joined a panel of “genome pioneers” at the opening session of the 12th International Congress of Human Genetics today. He was invited, besides his fame, because he was the second person to have his genome sequenced (Craig Venter was first), but his comments revealed that perhaps his most telling qualification is that he has a son who has schizophrenia. Known for his controversial views, Dr. Watson did not disappoint.
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