Perhaps you have your dad's crinkled ear, or were you one of those that couldn't figure out where that ear crinkle came from? The question you may want to ask is: Which family tree am I actually from? Oddly, as we have honed in on unique family diseases and traits, it turns out we are all each other’s family. Your primary care physician may be very interested in your family history as a window to your past and future heath needs, but, are we barking up the right (family) tree?
It's still a good idea to be mindful of your family's health, and there are great tools that can help you track this just by history. Family history is thus important, but the critical question is "do we really know all our genetic family history?". The intermixing of populations has gone on for many generations and it's difficult to determine "high risk" for diseases using the old way according to Dr. Ron Wapner in a Dec 2013 discussion in Ob Gyn News. He also cautions that when actually baby planning both partners should be screened and counseled together if possible. Remember that screening never eliminates all risk of a particular condition. There can be different expressions of certain genetic conditions that are undetected when undergoing specific genetic screening. An example of this genetic issue is mosaicism.
Panethnic Approach to genetic screening is what we now term a way to approach our mixed genetic background that we pretty much all have. The reason isn't perhaps what you think, it's in the actual inconsistencies in our genes called mosaicism.
Mosaicism exists in your blood, your eggs, in the male sperm, and skin cells. Since genetics, like other aspects of our physiology comes about through change and evolution over time, resulting in replication errors. Different cells in the body contain different genetic makeups. These errors result in mosaic genetic make up that will create individuals even with partial expression of Down syndrome, or Klinefelter syndrome, or Turner syndrome. All of these are slightly different than their normal counterparts (like some of the more common genetic conditions including Down syndrome, Klinefelter syndrome, and Turner syndrome) as those individuals will have different medical problems than an individual with more uniform genetic make up. One of the medical mysteries for genetic screening in light of mosaicism, is that it’s hard to know the mosaic ratio (percent of the mutated cells that actually underwent division over the normal cells).
The the past mosaicism missed by genetic tests gave wrong results to individuals. The most common error being missedare individuals with only very few mosaic cells. However, as next-generation sequencing (NGS) technologies continue to advance, including fancy testing called NGS technologies, Sanger sequencing, high-resolution melting (HRM) analysis, allele-specific PCR, pyrosequencing, SNaPshot and immunohistochemistry your lab can very accurately verify mosaicism.
At Women's Health Practice, we urge revisiting this subject often as technology is moving fast and you may need repeat testing, especially if newly pregnant. Recent studies point to lapses in the risk based screenings. Medicine is moving to a basic screening panel for the majority of genetic diseases, prior to pregnancy, no matter what your ethnicity is or you think it is!
But once all the screening is done,then keep track of all your genetic and family tree information!
It can help evaluate you and your family’s risk for diseases like diabetes, Alzheimer, and various cancers. Thankfully, in this modern age, look up our ancestry on apps on our iPhones and/or iPads. Ancestry.com, which is free to download for both Android and iOS, FamilySearch, which is also free to download for Android and iOS, MyHeritage, free for both, and many, many more. Whichever app/website you choose, it’s important stay aware and current so that as technology advances, you can keep track of and assess the risk of how different genetic diseases can affect your family.