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...

What do BRCA and Lynch syndrome have in Common?

A few years ago, Karen Malkin-Lazarovitz, founder of the BRCA Sisterhood on Facebook, reached out to me and asked me if I would be interested in being an administrator for the group. The BRCA Sisterhood is the largest BRCA Facebook support group for women, with almost 7,000 members – it’s an incredible resource for those who have been recently diagnosed with BRCA and are considering options for how to proceed. Karen’s group includes women from all over the world who share their stories, decisions, and intimate details… more...

#Hcchat: Should We Test Minors for Hereditary Cancer Syndromes?

#Hcchat: What About The Kids? Should We Test Minors For Hereditary Cancer Syndromes? I’m honored to announce that Pathway Genomics is sponsoring #Hcchat on Monday. Much gratitude to them for also supporting ihavelynchsyndrome.org’s advocacy efforts. #Hcchat will be focusing on a controversial topic: Should We Test Minor Children for Hereditary Cancer Syndromes? I can assure you this #Hcchat will be very informative and thought provoking. If you’re interested in #Hcchat, you may also, want to know it’s important offshoot: #Hcchat (Hereditary cancer chat) News. It’s a monthly newsletter… more...

Lynch syndrome, Cancer Memoirs, and #Hcchat

Lynch syndrome “I have Lynch syndrome…now what?” I receive countless calls a week from people who have just been diagnosed with Lynch syndrome. Many of them have doctors who fail to refer their patients to a certified genetic counselor and this is an enormous problem. Physicians must refer patients to a certified genetic counselor if they suspect or discover a patient is at risk. All too often, patients leave their doctor’s office with their positive genetic test results feeling confused, distraught, and fearful. I see this every single day. If… 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...

The Beacon of Light and Hope for those with Lynch syndrome…

The Beacon of Light and Hope: Marika The Beacon of Light and Hope for those with Lynch syndrome…. The best part of being an advocate for those with hereditary cancer syndromes is having the privilege of getting to know some extraordinary souls. Last January, I received an email from a gentleman named Marco who had recently been diagnosed with Lynch syndrome; his mother Marika was suffering from kidney cancer – this was her third bout with cancer due to Lynch syndrome. Marika inherited Lynch syndrome from her mother who also… 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...

Global Lynch syndrome advocacy

  Global Lynch syndrome advocacy… A strong family history of colon cancer and early deaths within my immediate family forced me to take drastic measures when I discovered I have one of the Lynch syndrome mutations. My horrible experience from the loss of my reproductive organs and the lack of information on the emotional aspects of having Lynch syndrome on the Internet four years ago was the impetus for my blog: ihavelynchsyndrome.org. I wanted to share my story because I knew there must have been others… more...

#Hcchat, Mayo, Keytruda, BRCA, and Pink & Blue

  Ellen Matloff of (@mygenecounsel), Amy Byer Shainman (@Brcaresponder), and I had another #Hcchat last night where we discussed men and hereditary cancer syndromes in honor of Men’s Health Month. You may find the transcript along with many of the informative banners for the chat here: https://goo.gl/lfWrNG One of the most important parts of that chat, which we wanted to bring attention to, is a study about men with the BRCA mutations, being conducted at Boston College by Dr. Hesse-Biber. For more information regarding this study, please click on this… more...

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