Genetic Disorders Expert Forum
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Questions in the Genetics Forum are being answered by medical professionals and experts. This forum is for questions and support regarding a person’s predisposition to a variety of medical conditions such as Ashkenazi Jewish Diseases, Bleeding Disorders, Blood Clotting Disorders, Cancer Genetics and Hereditary Cancer Syndromes, Chromosome Abnormalities, Congenital Birth Defects, Cystic Fibrosis, Family History, Fragile X Syndrome, Infertility, Newborn Screening, Rare Genetic Disorders, Prenatal Screening and Testing.

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In the absence of a family history for genetic disease, what is the risk of genetic disorder/birth defect in first cousins of Iranian descent?  Thank you.
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Consanguinity refers to when both members of a couple are related to each other by at least one common ancestor.

We all have two copies of almost every gene - one from each parent. In autosomal recessive (AR) conditions, it is typically necessary to have two mutations, one in each gene copy, to be affected. People with only a mutation in a single gene are called carriers, and typically do not have any symptoms of the condition.

It is believed that we all are carriers of at least 8-10 different autosomal recessive conditions. The chance that both members of a couple are both carriers of the same AR condition is increased if they are related to one another, as they each could have inherited a mutation from the same common ancestor.

The general population risk for two non-related people to have a child with a birth defect is estimated at 3-4%. In the absence of a known autosomal recessive condition in a family, the risk for first cousins to have a child with a birth defect is believed to be doubled, 6-8%.

We recommend that you and your partner meet with a genetic counselor, who can review your ethnic background, as well as your personal and family health histories to provide risk assessment specific to your situation. A genetic counselor can also discuss the benefits and limitations of any available genetic testing options. You can find a genetic counselor through the National Society of Genetic Counseling website or through companies like mine, AccessDNA.  You can also find more information about consanguinity at AccessDNA. You can find more information on consanguinity at AccessDNA.
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