Attendees of the breast cancer awareness symposium “Bridging the Gap: Promoting Breast Cancer Prevention, Screening and Wellness” were given the chance to submit questions on breast cancer in the minority community. This is the first part of these questions answered by Dr. Preya Ananthakrishnan, Assistant Professor of Clinical Surgery and a host of the event.
Q: I am a 51 year old Black women, whose mother died 13 years ago from breast cancer & her sister was diagnosed last year. I had a mammography 2 weeks ago and got the dreaded come back letter. Should I get genetic counseling?
Dr. Ananthakrishnan: I would suggest that your sister with the breast cancer get tested first, and if her test result is positive then you should get tested. Furthermore, it is likely that even though you got a “call back” letter after your mammogram, it is very possible that you don’t actually have a breast cancer. I would advise you to go in as soon as possible to work up whatever abnormality was seen. If you do in fact have a breast cancer, then you should certainly undergo genetic testing yourself.
Q: What is considered “early detection” of breast cancer?
Dr. Ananthakrishnan: Early detection is finding a breast cancer before symptoms actually occur. This could be by finding it on a mammogram before actually feeling a lump in the breast, or by finding a small lump before it becomes a big lump. Early detection can sometimes allow for less aggressive treatments and improved outcomes.
Q: Is radical mastectomy surgery still performed? I hear little about it now. Read more »
*This blog post was originally published at Columbia University Department of Surgery Blog*
Birth defects, particularly those of the blood vessels, account for the majority of infant deaths, especially after the first week of life. Congenital heart disease (CHD) — meaning defects of the heart — is responsible for one-third of deaths between birth and the first year of life. Therefore, the diagnosis of CHD is critical in order to plan life-saving treatments, such as the proper place for the delivery, the type of delivery, and its timing. If it’s known in advance that an unborn baby has a heart problem and is delivered in a hospital that provides special care, its survival and future health will increase dramatically.
Who’s at risk for having CHD and which expectant moms should have further evaluation? Families who have a history of CHD — especially mothers, fathers, and siblings — should receive genetic counseling. Multiple medical studies over the past fifteen years have demonstrated the significance of genetics as a main culprit of CHD. Parents of a child with CHD have a two percent to three percent chance of having another affected child. If a mother or father has CHD, a fetal cardiac echo (an ultrasound of the heart) is definitely warranted.
Because the treatment of CHD in many cases is surgical, there’s an increasing number of patients who have survived into adulthood and have ultimately become parents. Research has documented that 4.1 percent of their children will have CHD. Children with mothers who have CHD are at a greater risk of inheriting the disease than if they have fathers with CHD. Mothers with cyanotic heart disease — that is, blood that is without oxygen that bypasses the lungs and goes directly to the blood vessels — also have a greater risk of having a baby with CHD. Read more »
*This blog post was originally published at Dr. Linda Burke-Galloway*
I’ve been writing about personal genomics for years. The standard concept of it is that you can order such genetic tests online, send your saliva or buccal swab to the lab where they analyze your DNA, then you can check online what kind of diseases you have elevated or lowered risk for. That’s how Navigenics, 23andMe or Pathway Genomics works. Now Pathway had a major announcement:
San Diego based startup Pathway Genomics announced [May 18th] that it will begin selling its DNA collection kits at Walgreens drugstores beginning in mid-May, for about $20 to $30. Unlike a pregnancy test, users won’t be able to get results immediately. They will have to send in their saliva sample and then go to Pathway’s website to select the particular test they want. Users choose from drug response ($79), which assesses how well an individual can metabolize certain drugs, predicting the best dosage for that person or whether they will be susceptible to certain side effects; pre-pregnancy planning ($179), which determines whether parents carry mutations for serious genetic diseases; health conditions ($179), which assesses risk for a number of conditions, including diabetes, Alzheimer’s, prostate cancer and more; or a combination of all three ($249). The kits won’t be sold in New York because the state’s laws require medical professionals to be involved in this type of testing.
As you may know, I’m not totally against direct-to-consumer genetic testing, but I really would like to see doctors and genetic counselors in this process. I think selling such kits through drugstores can only happen in the U.S. right now. Read more »
*This blog post was originally published at ScienceRoll*
As the costs of sequencing our DNA shrink and the roles of digital media in our lives expand, we will need to understand who (or what) controls the ownership, access and use of our genomic information.
From state regulation to Google to Facebook, who controls the acquisition, transmission and replication of our genomic information and material will become an important battle in the 21st century. Read more »
*This blog post was originally published at Phil Baumann*