> Genetic Consultation

• What is Genetic Counseling?
• Genetic Professionals
• Reasons to Meet with a Genetic Professional
• What Happens in a Genetic Consultation?
• Genetic Testing Considerations

What is Genetic Counseling?

Genetic counseling (or genetic consultation) is a health service that provides information and support to people who are affected with a genetic disease, who are at risk to develop a genetic disease, or who are at risk to have children with a genetic condition. During a consultation, a genetic health professional meets with an individual (or family) to assess and discuss genetic risks; or to diagnose, confirm, or rule out a suspected genetic condition. Genetic health professionals also can also provide information and support about the management and treatment of genetic conditions.

Genetic consultations traditionally occur in a medical office, hospital, genetics center, perinatal center, cancer center, or other type of medical center. Occasionally, a genetic consultation is conducted in a group, over the telephone, or via telemedicine (using real time television technology).

Genetic Professionals

Genetics professionals include medical geneticists (doctors who specialize in genetics) and genetic counselors (specialists trained in both medical genetics and counseling). Other healthcare professionals who can provide genetic services include nurses, psychologists, and social workers trained in genetics.

Genetic counselors are trained in:

• Assessing risk for inherited conditions

• Offering appropriate genetic testing options (when available)

• Explaining the benefits and limitations of genetic testing

• Answering questions regarding genetic testing or inherited risk

• Educating about disease characteristics, management, prevention and follow-up

• Providing emotional support

• Referring to specialists or outside recourses (when needed)

Reasons to Meet with a Genetic Professional

Individuals and families seek genetic consultation for many different reasons including to address concerns about having or passing down a genetic condition, to discuss and understand genetic risks, to find explanation for unexplained symptoms, to find out whether genetic testing is available or appropriate, etc. There are different types of traditional genetic consultations including prenatal/preconception, pediatric, adult and cancer consults. Here are some common reasons for referral.

Prenatal/Preconception Consult:

• Maternal Age (women 35 years old or older at delivery)

• Known or suspected medical condition in the mother, which may impact fetal development

• Personal or family history of a known or suspected genetic condition, congenital birth defect, or chromosome abnormality

• Abnormal results from a blood screening test for fetal chromosome abnormalities

• Discussion of screening and genetic testing options in pregnancy

• Suspicion of a fetal problem based on abnormal ultrasound findings

• Recurrent pregnancy loss/Stillbirth

• Infertility

• Risk assessment for pregnancy planning

• Ethnic predisposition to specific genetic conditions

• Exposure to a known or suspected teratogen (an agent that can cause birth defects following fetal exposure during pregnancy)

Pediatric Consult:

• Abnormal results on newborn screening

• Growth abnormalities

• Lack of milestone achievement

• Physical abnormalities or malformations

• Mental retardation or development delay

• Evaluation for a suspected genetic condition or chromosome abnormality

• Blindness or deafness

• Family history of a known or suspected genetic condition, congenital birth defect, or chromosome abnormality

Adult Consult:

• Personal or family history of a known or suspected genetic condition

• Evaluation for a suspected genetic condition or chromosome abnormality

• Development of unusual and otherwise unexplainable symptoms

• Development of a degenerative disease

• Blindness or deafness

• Family history of a known or suspected genetic condition, congenital birth defect, or chromosome abnormality

Cancer Consult:

• Known personal or family history of cancers, which may have a genetic component

What Happens in a Genetic Consultation?

Genetic consultations take on average 60 minutes. More extensive evaluations may be needed in pediatric consults, adult consults, and cancer consults, which may require multiple visits over time.

Genetic health professionals often begin by taking a detailed personal and family medical history by creating a family medical tree called a "pedigree."

Genetic health professionals use this information along with any other relevant genetic and non-genetic test results to assess genetic risks, discuss options for diagnosis or testing, as well as discuss condition management or treatment.

Before a genetic consultation it may be helpful to:

• Collect family medical information from relatives, including diagnoses, age of disease onset or death, genetic testing results, as well as non-genetic, medical testing results.

• Become educated about basic genetic concepts or genetic testing options that may be of interest.

Genetic Testing Considerations

Informed consent is the important process by which a fully informed individual can participate in choices about his/her health care. Before ordering genetic testing online (over the internet) or in a medical setting, we recommend an individual understanding the following:

• Benefits of the test

• Limitations of the test

• Any risks associated with taking the test

• Accuracy, validity, detection rate and reliability of the test

• Consequences and implications of test results

Some issues we recommend exploring are:

• What are the personal reasons for testing?

• Is there concern about the psychosocial effects of tests results?

• Is there a support system in place?

• Is this the most appropriate time to have testing?

• How will results be shared with family members and medical professionals?

• Is the cost of testing too high, or is there concern that health insurance will not cover it?

• Is there a concern about genetic discrimination from an employer, health insurer, or life insurer?

• Is there a plan to use genetic test results to reduce risk and follow-up with the appropriate health care professionals, screenings and treatments?

A trained genetic professional, such as a genetic counselor or medical geneticist, can provide accurate information, emotional support, as well as help an individual in their own decision-making process about whether genetic testing is right for them.