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Assessment of a patient by a physician.
What are the skills and knowledge required for this job?
What are the duties and responsibilities of this job?

Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders.

Single-gene disorder / Prevalence of some single-gene disorders
Autosomal dominant
Autosomal recessive
X-linked dominant
X-linked recessive
Multifactorial disorder
Chromosomal disorder

The body is made up of trillions of cells. Cells perform many maintenance jobs, such as providing structure for the body, absorbing nutrients from food, and converting nutrients into energy. They are essential for a healthy, functioning body.

Proteins are like construction workers. They’re inside the cell, doing the hard labor. These proteins are built from a set of instructions called DNA. And DNA is held within genes — the “building blocks” of heredity. In this case, heredity is another way of saying a characteristic or condition is genetic and may be passed on from one generation to another.

Sometimes, a gene can have a mutation. This is a change in the gene’s instructions for building proteins, causing a protein to not work correctly, or be missing entirely. When this happens to one or more genes, it may cause a genetic disorder.

Genes are passed down from parent to child, which is why genetic disorders “run in the family.”

Even though genes are passed within families, there is something very important to remember: If your child has a genetic condition, do not feel guilty. You don’t pick which genes you pass on, or which genes will mutate. Some mutations happen because of environmental factors, such as exposure to ultraviolet radiation from the sun. And sometimes, the reason is completely unknown.

Who Should Come To The Genetics Clinic?
A Suspected Genetic Disorder Or Syndrome
Abnormal Genetic Test Results
Developmental Delay And Disability
Multiple Congenital Anomalies
Multiple Family Members With The Same Genetic Condition

Genetic testing can help to:

Diagnose or determine the severity of a disease
Find which genes and gene mutations are responsible for a disease
Look for gene mutations that may increase the risk of developing a disease
Determine the best treatments and medications
Identify certain gene mutations that may be passed down from parent to child
Screen newborn infants for treatable genetic conditions

Birth defects: Structural changes in the body that are present from birth. They can affect how any part of the body looks, works, or both.
Intellectual disability: Condition that includes lower-than-average intellectual function, as well as lack of personal care or daily living skills
Autism: Developmental disorder that affects behavior and communication
Rare genetic diseases: Rare diseases that are passed down from parent to child
Enzyme replacement therapy: Replacing missing or low levels of certain enzymes — the substances that cause chemical reactions in the body to help it function correctly
Multiple congenital anomalies: more than one irregular gene or genetic condition
Overgrowth syndromes: excessive tissue growth, often causing a child to be overweight or large at birth

Genetic Counseling

The results of genetic testing can seem overwhelming and confusing. Our board-certified genetic counselor explains genetic testing results in a way that is easy to understand. The counselor will discuss recurrence risks and inheritance patterns, which can be important for families considering future pregnancies.

You will likely see a genetic counselor if you have:

A personal or family history of a genetic disorder
A child with a genetic disorder or birth defect

Why Would You Visit Genetics?
There are many reasons a child or adult may be referred to genetics clinic. Often genetic testing can help identify a cause for the following conditions:
Developmental delay/intellectual disability
Autism spectrum disorders
Birth defects
Neuromuscular disorders
Failure to thrive or growth retardation
Hearing loss
Marfan syndrome and other connective tissue disorders
Prader-Willi syndrome and Angelman syndrome
Inborn errors of metabolism

In other cases, patients see us after another doctor has ordered genetic testing that has confirmed one of the following:

Chromosomal anomalies (i.e. Down syndrome, Turner syndrome, trisomy 13, trisomy 18)
Microdeletion/microduplication syndromes
Positive result on a single gene or panel test
Variants of uncertain significance found on chromosomal or gene testing that needs further interpretation

Other reasons to be referred to genetics clinic include:

Prenatal drug or alcohol exposure
Family history of a genetic condition
Preconception (family planning)

What happens at a genetics appointment?
The geneticist and/or genetic counselor will get to know you and your family. They will ask lots of questions about your medical history and family history. The geneticist will complete a physical exam, similar to what your primary care/pediatrician does. After that they will have a discussion with you about if any genetic testing is recommended and why they are recommending that test.

What is genetic counseling?
Genetic counseling involves analyzing medical history and family history to determine if any genetic testing might be right for you or a family member. The genetic testing recommended will be explained in detail and you will have the opportunity to ask questions and make an informed decision. When the results are available, genetic counseling involves explaining how this result may impact your future health or the health of your future family members. Inheritance patterns will be explained, and appropriate supports and resources will be provided to you if needed. Genetic counseling can be provided by a genetic counselor or a geneticist.

If I come for a genetics appointment do I have to pursue genetic testing?
No. Genetic testing is a personal decision. Our expert team is here to guide you to make recommendations and make sure you understand all of your options. The decision to pursue genetic testing is yours. In some cases, genetic testing may not be recommended if there is not a good genetic test available for your symptoms.

Does everyone receive a definitive diagnosis?
Unfortunately not everyone has an identifiable genetic condition that we are able to diagnose. There are many types of genetic tests available, so the chances of finding an answer for those who want one have certainly increased over the years. We also have options to refer patients who are undiagnosed to research studies that can help to try to find a diagnosis.

Is the geneticist going to try to do research on me/my child?
No. The geneticist is there to evaluate, diagnose, and if possible, treat your child’s symptoms. Sometimes research options are available, which will be discussed in detail if there is one appropriate for your family member’s condition. There is absolutely no obligation to participate in research studies if you are not interested.
Here are further guidelines.
Last Updated: October 22, 2021