• By Deepti Babu, MS, CGC
  • Posted June 7, 2017

Improve Patient Care by Reducing Ambiguity in Gene-Disease Relationships

New discoveries are rapidly expanding our understanding of the human genome, and diagnostic laboratories use different approaches to interpret this knowledge. A challenge for laboratories is translating vast amounts of published evidence to determine the clinical validity of gene-disease relationships, which need to be integrated into a patient’s …


  • By Theresa Smith
  • Posted November 10, 2016

These Are My Genetic Test Results… Please Don’t Shoot the Messenger

Editor’s Note: We are re-posting Theresa Smith’s entry to tie in with National Family History Day on Thanksgiving in two weeks in the U.S. Theresa was kind enough to update her piece on the importance of sharing family history and genetic test results, as challenging as it may be at times. Check back here in two weeks …


  • By Travis Bray
  • Posted August 22, 2016

Kicking and Screaming

Dealing with test results, as one would imagine, is solely and sorely dependent on the results. Writing about what’s it’s like for a doctor to say that there’s nothing wrong would produce a very short blog post. It would basically go like this: Doctor: “You’re fine… all clear.” Me: “Cool… see you next year, Doc.” Being sick, …


  • By Tara Namey
  • Posted July 28, 2016

What to Expect Regarding Your Health Care Following the Identification of a BRCA1 or BRCA2 Gene Mutation

When you learn that you have a BRCA1 or BRCA2 gene mutation, there are naturally questions as to what this will mean for your ongoing medical care and what you will need to do differently.    The initial conversation with your healthcare provider will likely include a discussion about the options available to more carefully …


  • By Theresa Smith
  • Posted April 7, 2016

What Can I Do Until My Children Can Be Tested?

Dealing with your own BRCA1 or BRCA2 genetic testing results is one thing, but worrying about testing for your children is another. Especially when they are under 18 years old. There is a very real possibility that people will have to wait for years for their kids to find out if they are positive or negative for the mutation. There …


  • By Theresa Smith
  • Posted March 22, 2016

Hang on a Minute, Let’s Think This Through

After testing positive for a mutation in my BRCA2 gene, I was on high alert. I rushed to all my doctor’s appointments and gathered a lot of information regarding preventive surgery options. I also did a lot of research on the statistics and newer medical studies regarding BRCA1 and BRCA2. I evaluated everything based …


  • By Deepti Babu, MS, CGC
  • Posted March 10, 2016

It's Complicated: Sharing Your Genetic Test Results (Original)

I feel funny writing about sharing genetic test results when I’ve never done it myself, but don’t let that stop you from reading… I’ll draw upon my years in the clinic as a genetic counselor, speaking to many families about this topic, and offer thoughts from my side of the table. I have seen that it’s complicated for some families, …


  • By Theresa Smith
  • Posted March 8, 2016

These are my genetic test results... please don't shoot the messenger.

The initial shock from receiving my positive results for the BRCA2 gene mutation was now turning into "a low grade fever" of concern, which was my new reality. I already explained the news to my immediate family, but I started thinking about all the extended family members my result could affect, too. My extended family is large - over …


  • By Jessica Profato
  • Posted February 4, 2016

Coping with Cancer: 5 Lessons from my Patients

As a clinical genetic counselor, a big part of my job was educating my patients about the basics of genetics and hereditarycancer. Another equally, if not more, important part of my job was to talk to them about how a diagnosis of cancer, a positive genetic test result, or a combination of the two was impacting their life and those of their …


  • By Theresa Smith
  • Posted January 14, 2016

Watching and Waiting for Cancer

So I met all the doctors. What now? All the information and options were given to me, and it was overwhelming, to say the least. I was considering both preventive surgeries (full hysterectomy and preventive bilateral mastectomy (PBM) with reconstruction). I was playing the “odds versus timing” game in my head: “If I wait until I’m X years …