Genetic Evaluation and Counseling

This information is useful for children, adults, and older adults
An extended family who might benefit from genetic evaluation and counseling

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If you’ve ever wondered what your genes might tell you about your risk for certain diseases or cancer, you are not alone. Genetics and its relationship to health and disease are in the news regularly now. As the cost of genetic sequencing—mapping out an individual’s DNA—has continued to decrease, it has become increasingly available to patients and researchers. But there are a number of aspects to consider before knowing the results of a genetic analysis, or even if one should be done in the first place. 

The role of a medical geneticist or genetic counselor is to guide patients and families through the pros and cons of genetic testing and help them understand the test results. There is no single “right” time to seek the service of a genetic counselor or a geneticist, since testing (and the need for counseling) can be recommended at any stage in life. A couple with concerns about passing on genetic problems to their child may opt for prenatal genetic testing and screening. Families with children who have mysterious or seemingly inexplicable health conditions might consider exome sequencing. An adult with a family history of inherited cancers or other diseases may want to have a genetic test that looks for certain genes known to cause the condition.  

"Genetic test results can have far-reaching impacts for individuals and families, so possible emotional, financial, and logistical challenges should be considered before testing, when possible," says Lauren Jeffries, DO, a medical geneticist at Yale Medicine.

It’s important to understand that your genetic makeup cannot be changed (at least, not at this point in time), but on the other hand, your lifestyle and approach to health care can change dramatically if test results identify a particular risk or condition.

At Yale Medicine, medical geneticists (physicians who specialize in genetics) and genetic counselors provide guidance for patients and families considering whether to undergo genetic testing, and help them navigate the complexities around genetic results.