New Medical Guidelines on Breast-Ovarian Cancer Risk Assessment, Genetic Counseling, and Genetic Testing
October is Breast Cancer Awareness Month, but some of you have breast cancer on your minds all year long. Maybe you’re a breast cancer survivor or your family members have had the disease. Five to ten percent of people with cancer have an inherited form, such as...
SMA – Family Perspectives on Testing, Treatment, and PGT
Spinal muscular atrophy (SMA) is a severe, neuromuscular disease that over time leads to the inability to walk, eat, or breathe. SMA is the leading genetic cause of infant death. The condition is inherited in an autosomal recessive manner, meaning those with the...
Community Perspectives on PGT for Sickle Cell Disease
Sickle cell disease (SCD), also called sickle cell anemia, is one of the most common and well-known genetic disorders globally. Preimplantation genetic testing (PGT), in combination with in-vitro fertilization (IVF), provides families with the opportunity to test...
Be Prepared for PGT – What Steps Can I Take Now?
You’ve determined you’re a candidate for preimplantation genetic testing (PGT). And you have done some background work to prepare yourself for what the process entails. Even if you are months or years away from wishing to conceive a pregnancy, there are many practical...
Be Prepared for PGT – How Do I Prepare Myself?
You have a genetic condition, or you are at-risk for developing one. Or maybe you and your partner found out you both carry a mutation for the same genetic condition. You’ve had confirmatory testing. Basically, you know you are a candidate. And now you may be...
Be Prepared for PGT – Am I a Candidate?
With the growing awareness of the importance of family history information as well as increasing access to genetic testing, more people are finding out that they may be at risk for a genetic disease. Sometimes, this knowledge comes before that individual is ready to...
Oncology Nurses’ Knowledge and Educational Needs Surrounding PGT
The availability of preimplantation genetic testing (PGT), previously known as preimplantation genetic diagnosis (PGD), for hereditary cancer syndromes like BRCA1 and BRCA2 or Lynch syndrome is fairly universal these days. Even five years ago, however, many healthcare...
Enabling Lives of Uncertainty: A Q&A with patient advocate, Lee Cooper (Part 2)
This is a continuation of a Q&A with Lee Cooper, patient advocate with LQTS and a proud father. Because this is Part 2 of Lee’s story, you may want to go back to read Part 1 first. Leslie: You said that you thought it was difficult initially to get information about...
Enabling Lives of Uncertainty: A Q&A with patient advocate, Lee Cooper (Part 1)
As a genetic counselor, I have heard hundreds of patient stories. Now and again, there are some that create quite an impact; so much of an impact that it changes the way you provide information to other patients. Lee Cooper is that person who profoundly changed how I...