There has been much sturm und drang lately about the ramifications of direct-to-consumer (DTC) genetic testing. Depending upon your point of view, either it’s the end of the world as we know it, or it’s a door opening into the future. These opinions seem to be based on, well, opinion, rather than a careful weighing [...]
Entries Tagged as ‘Robert Resta’
July 28, 2010
Facts, Figures and Fictions in Genetic Counseling
Genetic counselors have a love/hate relationship with numbers. We sometimes sniff with contempt at numbers , and nobly proclaim that psychosocial issues are the real business of genetic counseling. On the other hand, patients and referring physicians demand concrete answers, so we spend an inordinate amount of time discussing statistics and risk figures. And, truth [...]
June 14, 2010
GeeKnowType – The Unique Gene Boutique
“Know thyself,” said Socrates. We at GeeKnowType agree – everyone should have access to the personal knowledge hidden deep inside their DNA. But not everyone needs one of those pesky certified genetic “specialists” to guide them through the maze of genetic testing. Even if you don’t fully grasp the subtleties of germline mosaicism or imprinting, [...]
May 24, 2010
Whither GeneTests?
Well, it looks like it may be the end of the line for GeneTests, the widely used clinical genetics website. On March 18, NIH announced that it will develop the Genetic Testing Registry (GTR) “an online resource that will provide a centralized location for test developers and manufacturers to voluntarily submit test information such as [...]
April 11, 2010
The Great Genetic Counseling Divorce of 1992: A Historical Perspective On Change In The Genetic Counseling Profession
In 1992, the genetic counseling profession nearly imploded. What happened, and what do those events have to teach us as the profession faces new challenges?
March 2, 2010
Saqqaq Confidential
Is it ethically acceptable to study the genetic disease susceptibilities of dead people?
February 1, 2010
Counsyl, Counselors, and Counseling
Recent discussion on the NSGC listserv – and an article in the NY Times – has centered on the policies of Counsyl, a private lab that offers carrier genetic testing for more than 100 mendelian disorders. Specimens can be submitted to the lab directly by patients, without a healthcare provider’s signature – and therein lies the [...]
January 26, 2010
Testing Your Limits
We genetic counselors take great pride in our role as patient advocates. Everyone is equally deserving of our best professional skills and unbiased support. Rich, poor, immigrant, homeless, transgender, disabled, non-English speaking …. we like to think that none of it makes any difference. We give them all our best non-directive shot. On occasion, though, [...]
November 29, 2009
A Ghost From Christmas Past (Gate B4)
Not uncommonly we run into our patients outside of the workplace – in supermarkets, restaurants, and the like. When this happens, patients are usually friendly and chatter pleasantly while we frantically try to recall their names and what had brought them to our clinics. It can even be amusing, like the time my (then) 4 [...]
October 27, 2009
The Small Satori of Genetic Counseling
Let’s face it – lots of genetic counseling is repetitious. Most of us have subconsciously scripted our own version of a counseling session that we follow more rigidly than we like to admit, the inevitable outcome of seeing hundreds of fairly similar patients a year, year in and year out. On particularly busy days, you [...]
