What to expect at a genetics appointment

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Discover why you or your child may have been referred for a genetics appointment and what to expect when you see a geneticist and/or a genetic counsellor.

Key points

  • Your doctor will refer you and/or your child to a genetics team or clinic if they think your health concerns may be caused by a genetic condition.
  • A genetics appointment for you and/or your child will typically include a review of your medical and family history, a physical exam, and sometimes the option for genetic testing.
  • The genetics team includes several different types of health-care professionals, including genetic counsellors, medical geneticists, nurses and dieticians.
  • Genetic specialists assess and provide information regarding testing options and results to individuals and families who have, who are at risk of, or who may be at an increased risk of having a child with a genetic condition.

An appointment with a genetics health-care team can help individuals and families find an explanation for health and/or developmental concerns that affect them, understand results from genetic testing, and clarify how a genetic condition might impact their lives and future family planning.

Why was my family referred for a genetics appointment?

Your doctor will refer you or your child to a genetics team or clinic for several different reasons. Common reasons why your child may be referred for an evaluation in paediatric genetics include:

  • Your child’s doctor has identified some health and/or developmental concerns that may be caused by a genetic condition and wants to get the opinion of a doctor who specializes in genetic conditions.
  • Your child was found to have a genetic condition through prenatal testing or newborn screening.
  • A genetic test was performed, and expertise is needed to understand what the results mean for your child.
  • One of your family members has or is suspected of having a genetic condition, and you are being referred to learn about how this could impact your child.

You or your family members may also be referred to a prenatal or adult genetics clinic for genetic evaluation if you are concerned about:

  • Your risk of having a genetic condition due to a family history of a known genetic condition or many relatives affected with a specific condition (e.g., cancer).
  • Your risk of having a child with a genetic condition due to personal of family medical history or your ethnic background.
  • Symptoms or test results that you have received that are suggestive of a genetic condition.
  • An abnormal ultrasound during a pregnancy.

What happens during a genetics appointment?

What happens during an appointment will differ depending on the reason you or your child were referred. The first genetic appointment can last an hour or longer, and you can generally expect the following:

Medical history review

At the appointment, you and/or your child will meet with a member of the genetics health-care team. The health-care professional will review your medical records in detail ahead of the appointment, but you may be asked to verify the information and provide additional information about you or your child’s medical and developmental history.

Family history review

You will be asked about your family history, generally looking back three generations (to the grandparents). This may be drawn in the form of a pedigree (a family tree). The discussion about your family history will focus on any medical concerns that your family members currently have or have had in the past, including developmental delays, autism, birth defects, cancers, miscarriages, cause and age of death of family members or other known medical conditions. As some genetic conditions are more common in certain populations, you will also be asked about your ethnic background.

Example pedigree Pedigree of three generations with a female with trait in generation 2 and a male and female with trait in generation 3
This family history shows multiple individuals with a genetic condition and suggests that it is shared on the father’s side.

Physical examination and assessment

A physical exam may be performed by a geneticist. Along with a typical medical exam, this may include various measurements (height, weight, head size) and a possible request to take photographs (with consent). Once the assessment is complete, the genetics team may tell you if they suspect a genetic condition. In some cases, they may make a diagnosis or tell you about the chance that you or your child may have a genetic condition. Sometimes, the geneticist has an idea of what may be the cause of health concerns; and, sometimes, it may take some additional tests or evaluations—or advances in medical knowledge of genetic conditions—before a set of symptoms lead to a firm diagnosis.

Genetic testing

You or your child may also be offered genetic testing to confirm or clarify a possible diagnosis. This traditionally involves having you or your child give blood, which is sent to the lab for analysis. Genetic tests are offered to pinpoint a diagnosis and find the exact genetic change that causes a condition. To help understand the genetic test results in a child, parents may also be invited to provide a blood sample.

Once a diagnosis has been made, you and/or your child may be referred to other specialists as necessary.

Who will you see at a genetics appointment?

The genetics team includes several different types of health-care professionals, including genetic counsellors, geneticists, nurses and dieticians. When individuals and families are referred for a genetic evaluation, they will most often meet with a geneticist and/or a genetic counsellor.

What is a genetic counsellor?

Genetic counsellors are health-care professionals with specialized graduate degrees and experience in medical genetics and counselling. They assess and counsel individuals and families who have, who are at risk of, or who may be at an increased risk of having a child with, a genetic condition. Genetic counsellors provide information on genetic conditions including how a genetic condition is inherited, the risks associated with having that condition and how it can be managed. Genetic counsellors are trained to support individuals who are adapting to a genetic condition and help them make informed medical and personal decisions. For more information, see Genetic counselling.

What is a geneticist?

A geneticist is a doctor with specialized training in medical genetics. Geneticists evaluate, diagnose and treat people who have a suspected or confirmed genetic condition. Evaluations by a geneticist may involve a physical examination to identify signs and symptoms of a condition and requesting tests which may be able to point to a diagnosis. Once a diagnosis is made, the geneticist plays a role in providing recommendations for treatment and management. Geneticists can also help identify the risk of a genetic condition in a family.

How do I prepare for a genetics appointment?

There are a few things you can do to prepare for this visit:

  • Gather information about your family’s medical history.
  • If there are tests or investigations that were not shared with the genetics team prior to the appointment, you can bring copies of your/your child’s records.
  • Write down some of your questions or concerns before your appointment.

Some common questions you may have include:

  • How did this happen?
  • What will happen when I/my child gets older?
  • If my partner and I have more children, will those children have this condition or syndrome too?
  • Are there any opportunities for research or clinical trials?

Why is it helpful to meet with the genetics team?

Geneticists and genetic counsellors are there to provide you and your family with information and support. These are health-care providers who can help you understand a genetic condition by giving you an overview, discussing the associated clinical features and the management recommendations. They also provide support in adapting to a genetic diagnosis.

The genetics team will explain genetic concepts to help you understand how a genetic condition or syndrome occurs, what a genetic test is and what it involves. They will also discuss how a genetic condition is inherited and the chance that other family members or future pregnancies may also have the condition.

Once a diagnosis is made, recommendations for treatment and ongoing checkups may also be discussed with you. If the appointment is for your child, the team can also answer questions about what to expect as your child grows and provide you written material on the condition or prepare letters to help you inform others, like teachers at your child's school or other family members.

The genetics team will not tell you what decisions to make about your child's care, tell parents if they should have children or force someone to undergo genetic testing.

The genetics team is there to help you and your family be as informed as possible and know your options in terms of testing, treatment and family planning. Deciding whether to do a test or not, facing the possibility of a genetic condition or finding out about a syndrome or genetic condition can be challenging for some families. These concerns can also be addressed with your geneticist or genetic counsellor.

What happens after an appointment?

  • If a genetic test or additional investigations are requested, you will be told when the results are expected to come back and how these will be reviewed with you. These results may take a week to a few months to come in. You may also be referred to another medical specialist for an evaluation.
  • The geneticist or genetic counsellor will let you know if another genetics appointment is needed.
  • You are encouraged to contact the genetics team if there is any new information concerning your health or family history that may be important for the genetic evaluation.
  • When a genetic evaluation and testing does not lead to a clear diagnosis, it may be useful to stay in contact with the genetics team, as medical knowledge is constantly evolving and there could be new information about genetic conditions or genetic variants in the future.
Last updated: November 28th 2022