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Genetic Evaluation and Counseling

  • A consultation that provides an individual's risk of acquiring inheritable conditions
  • For people who may have a family history of a medical problem thought to be genetic in origin
  • Following genetic testing, genetic counseling to discuss the results may be the next step
  • Involves Genetics and the Genetic & Cancer Prevention Program

Genetic Evaluation and Counseling


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). 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. 

What is the difference between a genetic counselor and a medical geneticist?

Both medical geneticists and genetic counselors offer counseling services, but there are some differences between the two.

A genetic counselor is not a doctor but a licensed professional who has received specialized training and a master’s degree in genetic counseling and a certification by the American Board of Genetic Counseling. Genetic counselors have a range of backgrounds, including (but not limited to) science, psychology, and social work. They are well-equipped to take family histories, assess inheritance patterns, help individuals make decisions about the testing that is right for them (if any), and provide emotional support regarding results.

A medical geneticist is a licensed physician who has completed a residency in medical genetics and genomics, which is the study of genes and their role in human health and disease. These doctors have a broad knowledge of medical genetics and genetic disorders, and may specialize in certain areas, such as cardiology, neurogenetics, or cancer genetics, among others. 

Many medical geneticists completed training in pediatrics, internal medicine, or obstetrics and gynecology prior to entering the field. In addition to counseling services, they perform physical exams that can help inform what genetic testing may be best for an individual, which can be especially important in pediatric cases and cases involving patients with physical differences. 

Who needs genetic counseling?

Genetic counseling is recommended for anyone undergoing genetic testing with the intention of learning helpful health information for themselves or their family. "Most patients seek clinical genetic counseling for a personal or family history of a medical problem thought to be genetic in origin. Genetic testing offers the possibility of understanding why a certain problem has arisen in a family," Dr. Jeffries says. 

A person may be advised about genetic testing for a variety of reasons, including the following:

  • Family history of a genetic condition
  • Cancer diagnosis
  • Suspected disease linked to a genetic cause
  • Concern of passing on a genetic problem during pregnancy

What does genetic counseling offer?

Genetic counseling can provide valuable information about a genetic disease, starting with the risks and benefits of testing. Counselors and geneticists are informed about the medical, psychological, and financial resources that can help families cope with the outcome of the test. Genetic counselors and medical geneticists also educate patients and their families about the results of a genetic test, including possible preventive methods, treatments, and the chance of inheritance.

What happens during a genetic counseling session?

Genetic counselors and medical geneticists can provide information and guidance about genetic testing and results. During a visit, a wide range of topics might be covered, including the following:

  • Medical family history
  • An overview of how a genetic condition occurs and is passed on in a family  
  • How genetic variation causes or contributes to medical conditions
  • Additional tests that may help diagnose a condition
  • Possible treatment options for a genetic condition
  • Navigating the emotional distress that can arise with genetic diagnosis
  • Family planning and reproductive options
  • Referrals to specialists who treat diseases caused by genetic variation

What are some factors to consider before seeking genetic testing?

Genetic testing has unique social and financial considerations to understand ahead of time, which is one reason that counseling is so important. In genetics, results of testing are more likely than other types of evaluations to reveal health information not only about the individual undergoing testing, but also about his or her relatives. 

A genetic counseling session would involve a discussion of the likelihood a condition could occur in other family members—including future children. Sometimes genetic testing can help doctors personalize treatment plans. It can also reveal medical problems that could be addressed sooner than if a patient had waited for symptoms to appear.  

"It’s important to understand the limitations of the specific test you are considering," Dr. Jeffries says. No genetic test can diagnose all possible health conditions. The good news is that there are professionals at Yale Medicine who can help you understand your testing options and results. 

What makes Yale Medicine unique about the genetic evaluation and counseling services it provides?

Yale Medicine is equipped to see patients with a variety of specialized genetic concerns. Genetics patients at Yale Medicine are of all ages, from prior to birth to late adulthood. 

There are specific Yale Medicine programs for genetic counseling, including one for cancer or a family history of cancer (Smilow Cancer Genetics and Prevention); prenatal and preconception care (Prenatal Genetic Diagnosis Program); birth defects and other physical differences, intellectual disability and developmental delay, and inborn errors of metabolism (Genetics); congenital heart defects and cardiovascular disease (Pediatric Cardiogenetics program and Cardiomyopathy & Inherited Cardiovascular Disease Program); neurological and muscle diseases (Genetics and Neurogenetics programs); and patients with complex undiagnosed illnesses (Pediatric Genomics Discovery Program).