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. For example, a genetic disorder associated with a heart defect might be treated with surgery to repair the defect or with a heart transplant. Conditions that are characterized by defective blood cell formation, such as sickle cell disease, can sometimes be treated with a bone marrow transplant. Bone marrow transplantation can allow the formation of normal blood cells and, if done early in life, may help prevent episodes of pain and other future complications.

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. Management may include more frequent cancer screening or preventive (prophylactic) surgery to remove the tissues at highest risk of becoming cancerous.

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.

Most treatment strategies for genetic disorders do not alter the underlying genetic mutation; however, a few disorders have been treated with gene therapy. This experimental technique involves changing a person’s genes to prevent or treat a disease. Gene therapy, along with many other treatment and management approaches for genetic conditions, are under study in clinical trials.

Find out more about the treatment and management of genetic conditions:

Links to information about the treatment of specific genetic disorders are available in each Genetics Home Reference condition summary under the heading “Where can I find information about diagnosis or management of...?”

GeneReviews, a resource from the University of Washington and the National Center for Biotechnology Information (NCBI), provides detailed information about the management of specific genetic disorders as part of each peer-reviewed disease description.

The Agency for Healthcare Research and Quality’s (AHRQ) National Guideline Clearinghouse has compiled screening, diagnosis, treatment, and management guidelines for many genetic disorders.

Information related to the approaches discussed above is available from MedlinePlus:

• Inborn Errors of Metabolism

• Bone Marrow Transplantation

• Palliative care (also known as supportive care)

Genetics Home Reference offers consumer-friendly information about gene therapy, including safety, ethical issues, and availability.

ClinicalTrials.gov, a service of the National Institutes of Health, provides easy access to information on clinical trials. You can search for specific trials or browse by condition,trial sponsor, location, or treatment approach (for example, drug interventions).

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