TalkTechNation Talks About Genetic Testing
Recently, Ryan Phelan (DNA Direct’s founder and CEO) talked with Dr. Moira Gunn on NPR’s TechNation about home-kit genetic testing, the question of genetic discrimination, the importance of genetic counseling…and much more.
Listen to their conversation on BioTech Nation
If you’ve got questions for Ryan, join in the discussion and ask them here.
Technorati Tags: genes, genetic testing, genetic discrimination, discrimination, counseling, DNA
May 2nd, 2006 at 1:17 pm
I have some friends who, after the birth of a son with a genetic abnormality, have been going through genetic counseling for a second child, and even went so far as to have some in vitro done. The result of this was several fetuses, all of which had DIFFERENT genetic abnormalities…my question is the following: how much can our current technology and knowledge in this area tell couples like this one about the possibilities for having a child without genetic issues?
May 2nd, 2006 at 1:19 pm
adding to emily’s comment, should couples who don’t know they’re carriers for anything have genetic testing? in other words, should genetic testing be used prophilactically?
May 8th, 2006 at 11:18 am
Hi Emily and Kayla, let’s see if we can answer both questions at once. I’m afraid this might be a little long. Here’s what today’s technology offers couples…
1. Preimplantation Genetic Diagnosis. If a couple has an identified genetic abnormality that they are at risk for passing on — say Fragile X or a chromosomal translocation — they can use PGD to determine whether any of the embryos created by IVF carry that genetic abnormality. PGD can also screen for the most common chromosomal abnormalities (aneuploidies or additional/missing chromosomes). As all women get older, they are more likely to conceive embryos with aneuploidies.
2. Carrier Screening. Before getting pregnant, all couples should consider CF carrier screening (see today’s post). Also, if a couple has a family history of certain genetic conditions, carrier screening might be available. Couples should also consider screening based on their ethnic background. Certain ethnicities have higher carrier rates for certain disorders. For example, African Americans and sickle cell anemia, Mediterraneans and beta-thalassemias, South-East Asians and alpha-thalassemias, Ashkenazi Jews and Tay-Sachs disease and so on. (See the chart at the bottom of this page: http://www.jewishgeneticscenter.org/what/)
3. Amniocentesis. This is a procedure offered to pregnant women over 35 or who have had abnormal first-trimester screening test results (maternal serum screening). Amniocentesis can identify several hundred genetic disorders, including Down Syndrome. However, it cannot identify every birth defect.
Unfortunately, there isn’t one, single, over-arching genetic test that can tell couples planning a pregnancy what they may be at risk for. And there isn’t one test you can have done once your pregnant that will ensure a pregnancy is healthy.