Despite the obvious cliché nature of the old adage, knowledge really is power. Technology and medical advancements give doctors and researchers more information than anyone could have fathomed even a few years ago- but information and knowledge are not the same things. You must be informed to have the knowledge, but just because you have the information does not mean you know what to do. Fortunately, we have people who have the information and know what to do with it when it comes to screening people for rare genetic disorders, like Tay-Sachs disease or Gaucher disease.
Screening for diseases such as Tay-Sachs has revolutionized how doctors can identify, diagnose, and begin treating certain genetic diseases. For people of particular ethnicities, certain diseases and disorders are more common, so it is important for them to be screened appropriately.
An article published on the Detroit Jewish News website discusses the evolving face of genetic testing for people of Jewish ancestry. Jews with Ashkenazi heritage are particularly prone to certain genetic disorders.
Knowing if you are a carrier of a certain genetic mutation can improve the chances of identifying and diagnosing these diseases at early stages. Early diagnosis and treatment are often believed to result in the best outcomes, whether they are delayed progression or better quality of life.
Some screening programs include databases of people’s genetic information to allow couples to discover their genetic compatibility with regard to passing along certain diseases.
Other screenings can be done during the pregnancy to give parents the information they need to make decisions about the pregnancy.
If two people know that there is a chance, even a one in four chance like the chances of Tay-Sachs or Gaucher if both parents are carriers, would-be parents can have their embryos tested. That means; couples must provide a sperm and egg sample, in vitro fertilization is completed creating many embryos, all the embryos are tested, usually on day 5-7 of development. At that point, they are all frozen while testing is run, and then, whichever ones were found not to have BOTH mutations are available for implantation during a future cycle. Embryos with both mutations may be discarded, donated to research. etc. As with all in vitro procedures, there is no guarantee that the fertilization will work.
The screenings are giving us the information we need, but knowing what to do with the information is our true knowledge. Maybe the G.I. Joes were right, “Knowing is half the battle.”