What are the benefits of testing for genetic disorders?

Stanley F. Nelson, MD
Pediatric Hematology-Oncology
There are many reasons to pursue genetic testing. Parents of young children with serious medical issues can endure months or even years of diagnostic uncertainty that may never resolve into a completely satisfactory diagnosis. For couples planning their families and their futures, the high clarity of genetic information can be very impactful.

The genetic diagnosis can dramatically alter how the doctor views and cares for the person. It can also enhance a person’s care by alerting doctors to the possible presence of other conditions known to accompany the underlying mutation. An accurate diagnosis can sometimes suggest the presence of additional, often treatable, syndromes known to accompany the primary condition.

This content originally appeared online at UCLA Health.

Testing for genetic disorders can be beneficial because it eliminates any doubts you might have about whether or not you have a particular disorder. If the results are positive, you can take action in terms of treatment and prevention. A negative result may remove the need for other tests or screening you do not really need or indicate that another cause for your health issues should be explored. Screening of newborns can diagnose genetic disorders so treatments can begin early on.

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Important: This content reflects information from various individuals and organizations and may offer alternative or opposing points of view. It should not be used for medical advice, diagnosis or treatment. As always, you should consult with your healthcare provider about your specific health needs.