Talk About It Over Turkey: The Power of Your Family History

Discussions of genetic screening prior to or during pregnancy tend to be focused on DNA testing and less on family history. Understandably, medical providers may be more comfortable ordering a standard DNA test than interpreting three generations of family folklore. Tests such as those used to identify healthy "carrier-carrier" couples, who have a 25% chance to have a child with a recessive condition, or those used to screen for sporadic chromosomal conditions in a baby, are valuable screening tools. However, they cover a limited number of disorders and in many cases will not address significant concerns posed by family history. Notably, such screening does not test for dominantly inherited conditions (those passed from grandparent to parent, parent to child), so family history is the sole tool for identifying these risks. What's more, in one's 20s-40s - the peak years for reproduction - some individuals who are themselves at risk to develop a familial condition may not yet have symptoms, but could still harbor a mutation that could be passed on to their children. Finally, an accurate history can aid in interpreting findings from genetic testing, since in many cases testing identifies DNA variations that may or may not be truly related to disease risk, but might be better understood in the context of the family's past medical experiences. Once a pregnancy is conceived, one of the first conversations between physician and patient is about options for genetic screening, ...
Source: Science - The Huffington Post - Category: Science Source Type: news