Diving Deep with Patient Advocates

I’ve been a certified genetic counselor for over 20 years, working in pediatrics, general genetics, cancer genetics, and now as the CEO of my own company, My Gene Counsel. I have counseled thousands of patients and their families over these two decades, have run patient support groups, and have created and produced a podcast of patient stories. At this point in my career I’m considered a seasoned genetic counselor. At this point, shouldn’t I know everything there is to know about patients?   No. I continue to be reminded that… more...

A Summary from Dana Farber’s LYNKED IN Conference: Connecting and Empowering Lynch Syndrome Families 2017

The Dana-Farber’s Center for Cancer Genetics and Prevention in Boston just held their second annual LYNKED IN conference on March 18th. The stated goal of the conference is to provide information to patients, as well as their families and caregivers. This was my first experience attending anything pertaining to the Lynch community. I follow Georgia’s website — ihavelynchsyndrome.org — and social media regularly, so I feel like I have an online presence in the community, but I wanted to take the time to actively engage and perhaps… more...

Guardian of the Genome: An Overview of Li-Fraumeni Syndrome

Li-Fraumeni syndrome When I was initially diagnosed with Lynch syndrome, I became highly interested in other hereditary cancer syndromes and wanted to learn as much about them as I could. Reading about them gave me tremendous perspective. The more I read, the more I recognized the parallels between them … there may be some different cancer manifestations of these syndromes but for the most part the emotional gravity of having a hereditary cancer syndrome is the same. -Georgia You may be familiar with the BRCA genes and Lynch syndrome, but… more...

What is PGD? How Can It Help Those with Lynch syndrome?

What is Preimplantation Genetic Diagnosis and How Can It Help Those with Lynch syndrome?  Preimplantation genetic diagnosis (PGD) was introduced in 1990 and has provided a way to screen embryos for genetic conditions, chromosomal abnormalities, and mitochondrial disorders. This method enables couples to perform an embryo genetic analysis before transferring the embryo to the uterus during an in vitro fertilization (IVF) cycle. Before the introduction of PGD, the only option available to couples with a hereditary genetic condition was to naturally conceive and then perform prenatal testing, such… more...

G’s Book Review of The Gene By Siddhartha Mukherjee

G’s Book Review of The Gene “Human beings are ultimately nothing but carriers — passageways — for genes. They ride us into the ground like racehorses from generation to generation. Genes don’t think about what constitutes good or evil. They don’t care whether we are happy or unhappy. We’re just means to an end for them. The only thing they think about is what is most efficient for them.” – Haruki Murakami  Sid and I have something profound in common: “Scarcely a day passes in my adult life when I do… more...

February’s #Hcchat: What You Need To Know About Immunotherapy And Lynch Syndrome Related Cancers

February’s #Hcchat: What You Need To Know About Immunotherapy And Lynch Syndrome Related Cancers Do you have Lynch syndrome or a Lynch syndrome related cancer? Then you most definitely do not want to miss this #Hcchat on Twitter. We will be discussing immunotherapy and Lynch cancers with Stephanie Goff, MD,  from the NIH. February’s #Hcchat: What You Need To Know About Immunotherapy And Lynch Syndrome Related Cancers If you are unable to participate then please note that you may access the transcript on February 19th here: more...

From Awareness to Action: A Petition Calling on Myriad Genetics …

From Awareness to Action: A Petition Calling on Myriad Genetics to Free the Data by KJ Surkan, PhD It’s October again – Breast Cancer Awareness Month – and in 2015 I have to wonder, what exactly does that mean? Is there really anyone left in this country who has not been touched by this disease, who still needs to be made aware of it? The White House went pink on Friday to honor the 1 in 8 women in the U.S. who will develop breast cancer. That is an… more...

Ellen Matloff Unplugged

Ellen Matloff Unplugged I was on the phone one day last winter with Amy Byer Shainman, my BRCA #BFF, and we were talking about starting #Lschat (Lynch syndrome Chat) on Twitter. Lynch syndrome was in dire need of a strong media presence on Twitter and so that is when I decided to begin #Lschat (Lynch syndrome chat). Amy and I had participated on various other Twitter chats and wanted to mix things up a bit by bringing an expert onboard; I wanted to be sure we were providing our audience with… more...

10 Reasons Why Genetic Testing is Important

By Sarah Witherington, Genetic Counselor So in my previous blog posts we have discussed what genetic counselors are, what genetic counselors do, why genetic testing takes so long, and about a few other genetic diseases, but we haven’t really talked about why genetic testing is important.  Or I guess more accurately, because genetic counselors are always concerned with being extremely accurate, my opinions on why genetic testing is important. 1.Genetic testing can help determine your course of treatment. Genetics is the “final frontier” in the medicine world, to steal from… more...

“Mutation” of the Month: FAP by Genetic Counselor, Sarah Witherington

First, before every genetics person writes me an email regarding my use of the word mutation, please let me explain. I chose the title because it’s nice having two M’s together, it looks and sounds nicer frankly than saying “Genetic Syndrome of the Month”, and because it will give me a chance to explain exactly what is a mutation. This “mutation” of the month column will become a monthly blog and so it’s even more important to make sure we are all on the same page. Try to remember… more...

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