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About the Glossary

About Genetic Services

• What is Genetic Testing?
  
  
• Uses of Genetic Testing
  
  
• Ancillary Services
  
  
• What is a Genetics Consultation?
  
  
• Who Should Have a Genetics Consultation?
  
  
• Ordering Genetic Testing

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About Genetic Services

Who Should Have a Genetics Consultation?

Individuals and families who are concerned about a genetic disease may benefit from a genetic consultation whether or not testing is available for that condition. Many people are seeking information and coping strategies as much as test results.

Reasons for referral for a genetics consultation are often grouped by age: Preconception/Prenatal, Pediatric, and Adult. Common reasons for referral are given below, but these lists are not exhaustive.

Consult your local genetics clinic to determine whether a genetics referral is appropriate.

Common reasons for a preconception/prenatal genetics consultation:

• Mother will be 35 years or older at delivery
• Abnormal results from a triple marker screen or fetal ultrasound
• Personal or family history of a known or suspected genetic disorder, birth defect, or chromosomal abnormality
• Exposure to a known or suspected teratogen
• Mother has a medical condition known or suspected to affect fetal development
• Two or more pregnancy losses
• Close biological relationship of parents
• Ethnic predisposition to certain genetic disorders

See Sample Preconception/Prenatal Assessment Tool (pdf).

Common reasons for a pediatric genetics consultation:

• Abnormal newborn screening results
• One or more major malformations in any organ system
• Abnormalities in growth
• Mental retardation or developmental delay
• Blindness or deafness
• Presence of a known or suspected genetic disorder or chromosomal abnormality
• Family history of a known or suspected genetic disorder, birth defect, or chromosomal abnormality

See Sample Pediatric Assessment Tool (pdf).

Common reasons for an adolescent/adult genetics consultation:

• Mental retardation
• Personal or family history of hereditary cancers
• Personal or family history of a known or suspected genetic condition or chromosomal abnormality
• Blindness or deafness
• Development of a degenerative disease
• Risk assessment for pregnancy planning

See Sample Adolescent/Adult Assessment Tool (pdf).

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(Revised 3-19-04) 

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