During a typical visit, we will start by gathering information relevant to the reason for referral. We may also inquire as to whether a patient understands why their physician referred them to a genetics evaluation.
Family history information is obtained
A detailed family history (called a pedigree) is obtained from a patient. A pedigree is a tool which allows us to visually connect individuals in a family and identify patterns of inheritance. We ask questions about the health of the parents, their children, their brothers, sisters, parents and grandparents with an emphasis on the most important details below:
- Who in the family has been diagnosed with a genetic or developmental condition?
- What type of genetic or developmental conditions did each individual have?
- At what age was each individual diagnosed with a genetic or developmental condition?
- Did anyone in the family die at a young age resulting from medical problems?
Personal medical information is obtained
A personal medical history is also obtained during the appointment. A personal medical history offers details about a patient’s medical history, surgical history, and surveillance practices (i.e. echocardiograms, mammograms, colonoscopy, etc). Depending on what conditions run in the family, our clinical geneticist may perform a physical exam. It is very much like any other physical, but we tend to do more measurements than other doctors (ex. hand length, arm span, ear length).
Once we have completed a comprehensive risk assessment, we also do a great deal of education and counseling. We explain basic genetics (what are genes, DNA and chromosomes?) as well as how a condition may run in families. During a prenatal and preconception evaluation, we will talk about how various birth defects and genetic conditions are inherited, how they develop in an unborn child, prognosis for the future, and if further testing may be recommended.
We explain the signs and symptoms of the condition as well as any issues involved with daily living and activities. Since genetic conditions can affect an entire family, we also discuss how the condition affects a person’s and the family’s emotions and relationships.
We are trained to assist with communicating this information amongst family members in a way that is sensitive to family dynamics and individual coping styles. Our team of genetic experts collaborates with external genetics professionals so that we can connect at-risk relatives with competent, trained genetic healthcare professionals living in other areas.
Genetic testing is discussed
Since everyone is not a candidate for genetic testing, we will assess a patient’s personal and family histories to determine if genetic testing is appropriate.
Genetic testing is ordered, if appropriate
With genetic testing, the goal is to determine if a change in a gene is responsible for causing an individual to have an increased risk for a genetic or developmental condition. In order to be cost-efficient and precise, it is our job to identify the family member who is most likely to show a genetic mutation and to determine the gene or genes with the highest likelihood of showing a change. Genetic testing generally requires 1-2 tubes of blood and informed consent from the person being tested.
A follow-up appointment may be made during which patients can discuss the results with a genetics expert. The appointment may take more or less than an hour. The next steps, which may include additional testing, testing for other family members, or medical management issues, are discussed at that time. Testing can be offered to other members of the family to help clarify individual risks.
Negative test results are interpreted on a case-by-case basis. In some situations, they may be interpreted based on population risk factors, but in other additional recommendations are made due to personal and family history factors. If a test result comes back negative for a genetic mutation, we will formulate an individualized medical management plan based on personal and family history. Whatever the case, we communicate information to the primary care provider and work with them to medically manage the patient.
When a test result shows the presence of a genetic mutation, we assist the patient in creating a medical management plan and relay the information to their referring health care provider. We also provide ongoing care for patients with genetic conditions, coordinate multidisciplinary medical appointments for patients, and help patients access resources related to their condition.
We can also provide trustworthy health information to take home and connect patients with relevant support groups. When a diagnosis cannot be made the chance for inheriting or passing on a condition to children may not be known. We also take this time to address patient and family concerns and answer questions from the family. If a research opportunity is available, we will discuss the risks, benefits and limitations of research study participation.
Since new discoveries in the field of genetics are constantly evolving, we may learn about new genes, diagnostic tests and treatments that could be helpful to you or your child. For this reason, we may recommend that you come back to see us in the future.