By: Aishwarya Arjunan and Alyssa Cohen
Remember those family trees you did back in third grade? Yours was probably very different than the tree of the kid who sat next to you; in fact, it was probably completely unique. America is a “melting pot” of different cultures and ethnicities and each of us has a very different background. These cultural differences mean more than celebrating different holidays or having different family recipes, they could mean a difference in genetic predispositions.
We all carry changes in our genes that can lead to disease. Many ethnic groups have “their own” genetic disorders—disorders that are not unique to the group, but are found to be more common in individuals from that particular ethnic background. Because America is this “melting pot” and we all have a unique background, it is important that we are all aware of both our family history and our family health history.
If starting a family is in your future, consider learning more about your ethnicity and family health history. Speak with a doctor or genetic counselor about the disorders that are more common among individuals with your background and about counseling and screening options available to you. Carrier screening is designed for healthy individuals who have no symptoms of a disease, but are known to be at a high risk because of family health history or ethnicity and it might be the right option for you.
Feel free to contact the Norton & Elaine Sarnoff Center for Jewish Genetics with questions about carrier screening regardless of ethnicity. Our genetic counselor will be more than happy to answer your questions and direct you to the appropriate specialist.
The following are examples of genetic conditions that are seen more commonly in various ethnic groups.
African Americans: Hemoglobinopathies*, glucose-6-phosphate deficiency, cystic fibrosis
Ashkenazi Jewish: Gaucher disease type I, cystic fibrosis, Tay-Sachs disease, familial dysautonomia, and Canavan disease, are a few of the conditions seen more frequently in individuals with Ashkenazi Jewish descent.
Asian (including Southeast Asian and Chinese): Hemoglobinopathies
French Canadian: Tay-Sachs disease, tyrosinemia
Hispanic Caribbean: Hemoglobinopathies
Hispanic Mexican/Central American: hemoglobinopathies, cystic fibrosis
Indian (Asian subcontinent): hemoglobinopathies
Irish/English/Welsh: Neural tube defects, cystic fibrosis
Mediterranean (Southern European Caucasian): Cystic fibrosis, hemoglobinopathies, glucose-6-phosphate deficiency,
Middle Eastern: Phenylketonuria (Turkish), hemoglobinopathies
Northern European Caucasian: Cystic fibrosis, phenylketonuria, alpha-1-antitrypsin deficiency, hereditary hemochromatosis
Sephardic Jewish: Familial Mediterranean fever, glucose-6-phosphate deficiency, glycogen storage disease, hemoglobinopathies, Wolman Disease
*disorders of hemoglobin include sickle cell disease and thalassemia
Have questions about carrier screening? Or even just, have questions? You can reach our genetic counselor at 312-357-4718 or email@example.com.