Why might someone have a genetic consultation?

Individuals or families who are concerned about an inherited condition may benefit from a genetic consultation. The reasons that a person might be referred to a genetic counselor include:

• A personal or family history of a genetic condition, birth defect, chromosomal disorder, or hereditary cancer.
• Two or more pregnancy losses (miscarriages), a stillbirth, or a baby who died.
• A child with a known inherited disorder, a birth defect, intellectual disability, or developmental delay.
• A woman who is pregnant or plans to become pregnant at or after age 30. (Some chromosomal disorders occur more frequently in children born to older women.)
• Abnormal test results that suggest a genetic or chromosomal condition.
• An increased risk of developing or passing on a particular genetic disorder on the basis of a person’s ethnic background.
• People related by blood (for example, cousins) who plan to have children together. (A child whose parents are related may be at an increased risk of inheriting certain genetic disorders.)

A genetic consultation is also an important part of the decision-making process for genetic testing. A visit with a genetics professional may be helpful even if testing is not available for a specific condition, however.

What is the prognosis of a genetic condition?

The prognosis of a genetic condition includes its likely course, duration, and outcome. When health professionals refer to the prognosis of a disease, they may also mean the chance of recovery; however, most genetic conditions are life-long and are managed rather than cured.

Disease prognosis has multiple aspects, including:

• How long a person with the disorder is likely to live (life expectancy)
• Whether the signs and symptoms worsen (and how quickly) or are stable over time
• Quality of life, such as independence in daily activities
• Potential for complications and associated health issues

The prognosis of a genetic condition depends on many factors, including the specific diagnosis and an individual’s particular signs and symptoms.

The prognoses of genetic disorders vary widely, often even among people with the same condition. Some genetic disorders cause physical and developmental problems that are so severe they are incompatible with life. These conditions may cause a miscarriage of an affected embryo or fetus, or an affected infant may be stillborn or die shortly after birth. People with less severe genetic conditions may live into childhood or adulthood but have a shortened lifespan due to health problems related to their disorder. Genetic conditions with a milder course may be associated with a normal lifespan and few related health issues.

The prognosis of a disease is based on probability, which means that it is likely but not certain that the disorder will follow a particular course. Our healthcare provider is the best resource for information about the prognosis of your specific genetic condition. He can assess your medical history and signs and symptoms to give you the most accurate estimate of your prognosis.

How are genetic conditions treated or managed?

Many genetic disorders result from gene changes that are present in essentially every cell in the body. As a result, these disorders often affect many body systems, and most cannot be cured. However, approaches may be available to treat or manage some of the associated signs and symptoms.

For a group of genetic conditions called inborn errors of metabolism, which result from genetic changes that disrupt the production of specific enzymes, treatments sometimes include dietary changes or replacement of the particular enzyme that is missing. Limiting certain substances in the diet can help prevent the buildup of potentially toxic substances that are normally broken down by the enzyme. In some cases, enzyme replacement therapy can help compensate for the enzyme shortage. These treatments are used to manage existing signs and symptoms and may help prevent future complications. For other genetic conditions, treatment and management strategies are designed to improve particular signs and symptoms associated with the disorder. These approaches vary by disorder and are specific to an individual’s health needs.

Some genetic changes are associated with an increased risk of future health problems, such as certain forms of cancer. One well-known example is familial breast cancer related to mutations in the BRCA1 and BRCA2 genes

Genetic disorders may cause such severe health problems that they are incompatible with life. In the most severe cases, these conditions may cause a miscarriage of an affected embryo or fetus. In other cases, affected infants may be stillborn or die shortly after birth. Although few treatments are available for these severe genetic conditions, health professionals can often provide supportive care, such as pain relief or mechanical breathing assistance, to the affected individual.