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What is the prognosis of a genetic condition?

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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

The prognosis of a genetic condition depends on many factors, including the specific diagnosis and an individual’s particular signs and symptoms. Sometimes the associated genetic change, if known, can also give clues to the prognosis. Additionally, the course and outcome of a condition depends on the availability and effectiveness of treatment and management approaches. The prognosis of very rare diseases can be difficult to predict because so few affected individuals have been identified. Prognosis may also be difficult or impossible to establish if a person’s diagnosis is unknown.

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. Your healthcare provider is the best resource for information about the prognosis of your specific genetic condition. He or she can assess your medical history and signs and symptoms to give you the most accurate estimate of your prognosis.

Learn more about the prognosis of genetic conditions:

This list of resources can help you locate a genetics professional in your area.

The A.D.A.M. Medical EncyclopediaThis link leads to a site outside Genetics Home Reference. on MedlinePlus offers brief descriptions about many health problems, including some genetic conditions. Each page includes a section on Outlook (prognosis).

A discussion of the prognosis of disorders with a neurological basisThis link leads to a site outside Genetics Home Reference. is available from the National Institute of Neurological Disorders and Stroke (NINDS).

The National Cancer Institute (NCI) provides an overview of cancer prognosisThis link leads to a site outside Genetics Home Reference..

Nemours’ KidsHealth has a fact sheet, When Your Baby is Born With a Health ProblemThis link leads to a site outside Genetics Home Reference., that outlines what parents can expect when their infant has a genetic condition.

Local and national support and advocacy groups are also excellent resources for information about specific genetic conditions, including disease prognosis. Each condition summary on Genetics Home Reference provides links to support and advocacy resources under the heading “Patient Support.” Additionally, patient support resources related to specific genetic conditions can be identified through the Genetic Alliance’s Disease InfoSearchThis link leads to a site outside Genetics Home Reference..


Next: How are genetic conditions diagnosed?

 
Published: December 22, 2014