March 29, 2023

What is Genetic Counseling?

A person who enjoys science and interacting with people might wonder, “What is genetic counseling?” Genetic counseling is a type of medical service that combines information from DNA testing with data about relative risks so that a person or a couple can make informed decisions about their future. Understanding the facets of genetic counseling could help a person decide whether or not they want to earn a master’s degree in this area of expertise.

Information About Genetic Conditions

Anyone can visit a genetic counselor for information about genetic conditions. This may be a visit before the person has their own DNA analyzed. For example, if a person just found out that their sister was diagnosed with the BRCA1 mutation and has breast cancer, she might want to know about her risk and whether or not getting genetic testing would benefit her. A couple who has had trouble conceiving a child might seek genetic counseling in advance of genetic testing in order to determine if there is a genetic cause for miscarriage or infertility.

Customized Risk Profile

Once a person has had their DNA tested, they meet with the genetic counselor again in order to get information about their personal risk profile. They could use that information in order to decide whether or not they, their children or their partners should have genetic testing performed. For example, a woman who finds out that her sibling’s child has Wilson’s disease may want to get herself tested. If she is a carrier, she may then want her partner to be tested.

Health Planning

Genetic counseling also includes health planning, explains the Centers for Disease Control and Prevention. For example, a person who has genetic markers for Lynch syndrome might choose to start colonoscopies earlier than the age of 50. They might elect to have an annual colonoscopy instead of one every three years. A person who has genetic markers for hereditary breast and ovarian cancer might elect to have a preventive mastectomy and oophorectomy surgeries. Someone who has a positive screening for familial hypercholesterolemia might decide to start cholesterol control medicines early or modify their lifestyle in order to reduce their risk of heart disease. Individuals found to have genetic markers for muscular dystrophy might wish to make modifications to their homes for handicap accessibility.

Understanding Pregnancy Screenings

Genetic counseling also includes addressing screening tests that are offered before or during pregnancy. These tests may be performed on the mother, both parents or fetal cells. The counseling also includes an explanation of any detected problems that could affect the pregnancy, infant development or childhood. Pregnancy screenings may also explain a history of past miscarriages or stillbirths that a woman has experienced. After a child is born, they may be tested for genetic disorders if they show symptoms of a condition and no pregnancy screenings were performed.

Genetic counseling helps people understand their risk of a genetic disease, allowing them to make proactive decisions about their health. It may also factor into their decision to have a biological child. Knowing the answer to the question, “What is genetic counseling?” could make it easier for a person to choose a career or to know what type of help to seek after they get a medical diagnosis of a genetic disorder.

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