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Experts at the National Human Genome Research Institute (NHGRI) have assembled answers to frequently asked questions about genetic disorders, the impact of genomics on your health, and the emerging science of pharmacogenomics.

An Undiagnosed Condition in a Child FAQ | NHGRI
Undiagnosed Condition in a Child FAQ

A child has an "undiagnosed condition" when a physician is unable to find a diagnosis for certain characteristics or symptoms.

An Undiagnosed Condition in an Adult FAQ | NHGRI
An Undiagnosed Condition in an Adult FAQ

An adult has an "undiagnosed condition" when a physician is unable to find a diagnosis for certain characteristics or symptoms.

​Clinical Research FAQ | NHGRI
Clinical Research FAQ

​Clinical research is research conducted with human subjects, or material of human origin, in which the researcher directly interacts with human subjects.

​Genetic Testing FAQ | NHGRI
Genetic Testing FAQ

​Genetic tests may be used to identify increased risks of health problems, to choose treatments, or to assess responses to treatments.

​Genetics, Disease Prevention and Treatment FAQ | NHGRI
Genetics, Disease Prevention and Treatment FAQ

​Genetic research is creating new ways for people to take action and prevent disease and new ways to treat disease through personalized medicine.​ ​

​Genetic Counseling FAQ | NHGRI
Genetic Counseling FAQ

Genetic professionals provide information and support to individuals or families who have genetic disorders or may be at risk for inherited conditions.

​Neglected Diseases FAQ | NHGRI
Neglected Diseases FAQ

Neglected diseases are conditions that inflict severe health burdens on the world's poorest people.

​Pharmacogenomics FAQ | NHGRI
Pharmacogenomics FAQ

​Pharmacogenomics combines the science of how drugs work, called pharmacology, with the science of the human genome, called genomics.​

​Rare Diseases FAQ | NHGRI
Rare Diseases FAQ

A rare disease is generally considered to be a disease that affects fewer than 200,000 people in the United States at any given time.

Last updated: January 9, 2019