Glenn Nichols, surrounded by his hospice team. The author is in yellow.
June 14, 2013
(credit: Dept of Energy)
Earlier today, my “in” box began to fill with info from everyone I’ve ever met letting me know that the Supreme Court
had ruled on the Myriad case about patenting the breast cancer genes BRCA1 and BRCA2. I also received a dozen pitches from PR people offering me all manner of instant interviews with lawyers, doctors, bioethicists, and health care analysts.
No one offered me an interview with a geneticist – a person who knows something about DNA. So being such a person myself, I decided to take a look at the decision. And I found an error right smack in the opening paragraph: (more…)
April 12, 2013
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. (more…)
February 5, 2013
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. (more…)
February 15, 2012
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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. (more…)
October 18, 2011
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 (more…)
October 11, 2011
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. (more…)
Project to engage students in helping families with rare genetic diseases
Book Club Reader's Guide
Many challenging questions to stimulate thought and discussion.
38 discussion questions to get students thinking and talking about gene therapy, including the science, ethical issues, and the drug approval process.
The Forever Fix is the uplifting true story of 8-year-old Corey Haas, who was cured of hereditary blindness just 4 days after gene therapy.
A spectacularly-illustrated, clearly written human anatomy and physiology textbook, used in pre-health profession programs throughout the U.S.
A highly engaging, clearly written, beautifully illustrated introduction to the science of human genetics for the non-scientist. Now in its 10th edition.
An ideal starting point for anyone who wants to know more about genes, DNA, genomes, and the genetic ties that bind us all.
DNA Science blog posts at Public Library of Science
My weekly blog posts at DNA Science cover breaking genomics news, often as personal stories, historical perspective, or looking ahead.
NORD Breakthrough Summit
Personalizing Medicine - Hannah's Story
Genetics and Reproduction: How Far Should We Go?
Interview with Filament Communications
Ricki Lewis on the Difference Between Writing About Science and Science Writing
A one-hour interview, mostly about why gene therapy has been beneath the radar.
Answers for the Family (http://answers4thefamilyblog.com) on www.LATalkRadio.com
Voiceamerica radio show
Kathryn Vox radio show, including "The Forever Fix"
Publishers Weekly starred review
first advance review for The Forever Fix
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